Cited by 1,756Myeloproliferative Neoplasms: Diagnosis and TreatmentAcute Myeloid Leukemia ResearchPlatelet Disorders and Treatments

The DOI matches its Crossref record; 40 of the 40 references it cites were found in a registry or an index.

Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2

Open access

Nangalia, J., Massie, C.E., Baxter, E.J., Nice, F.L., Gundem, G., Wedge, D.C., Avezov, E., Li, J., Kollmann, K., Kent, D.G., Aziz, A., Godfrey, A.L., Hinton, J., Martincorena, I., Van Loo, P., Jones, A.V., Guglielmelli, P., Tarpey, P., Harding, H.P., Fitzpatrick, J.D., Goudie, C.T., Ortmann, C.A., Loughran, S.J., Raine, K., Jones, D.R., Butler, A.P., Teague, J.W., O'Meara, S., McLaren, S., Bianchi, M., Silber, Y., Dimitropoulou, D., Bloxham, D., Mudie, L., Maddison, M., Robinson, B., Keohane, C., Maclean, C., Hill, K., Orchard, K., Tauro, S., Du, M.-Q., Greaves, M., Bowen, D., Huntly, B.J.P., Harrison, C.N., Cross, N.C.P., Ron, D., Vannucchi, A.M., Papaemmanuil, E., Campbell, P.J., Green, A.R.·2013·New England Journal of Medicine

DOI 10.1056/nejmoa1312542PMC PMC3966280

Open this paper in CoChat — free account Open PDF

Abstract

BACKGROUND: Somatic mutations in the Janus kinase 2 gene (JAK2) occur in many myeloproliferative neoplasms, but the molecular pathogenesis of myeloproliferative neoplasms with nonmutated JAK2 is obscure, and the diagnosis of these neoplasms remains a challenge. METHODS: We performed exome sequencing of samples obtained from 151 patients with myeloproliferative neoplasms. The mutation status of the gene encoding calreticulin (CALR) was assessed in an additional 1345 hematologic cancers, 1517 other cancers, and 550 controls. We established phylogenetic trees using hematopoietic colonies. We assessed calreticulin subcellular localization using immunofluorescence and flow cytometry. RESULTS: Exome sequencing identified 1498 mutations in 151 patients, with medians of 6.5, 6.5, and 13.0 mutations per patient in samples of polycythemia vera, essential thrombocythemia, and myelofibrosis, respectively. Somatic CALR mutations were found in 70 to 84% of samples of myeloproliferative neoplasms with nonmutated JAK2, in 8% of myelodysplasia samples, in occasional samples of other myeloid cancers, and in none of the other cancers. A total of 148 CALR mutations were identified with 19 distinct variants. Mutations were located in exon 9 and generated a +1 base-pair frameshift, which would result in a mutant protein with a novel C-terminal. Mutant calreticulin was observed in the endoplasmic reticulum without increased cell-surface or Golgi accumulation. Patients with myeloproliferative neoplasms carrying CALR mutations presented with higher platelet counts and lower hemoglobin levels than patients with mutated JAK2. Mutation of CALR was detected in hematopoietic stem and progenitor cells. Clonal analyses showed CALR mutations in the earliest phylogenetic node, a finding consistent with its role as an initiating mutation in some patients. CONCLUSIONS: Somatic mutations in the endoplasmic reticulum chaperone CALR were found in a majority of patients with myeloproliferative neoplasms with nonmutated JAK2. (Funded by the Kay Kendall Leukaemia Fund and others.).

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1056/nejmoa1312542

Cites

40 of 40 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues
Swerdlow, S. H. (2017) · Medical Entomology and Zoology · Cited by 12,933
Cancer Genome Landscapes
Vogelstein, B., Papadopoulos, N., Velculescu, V. E., Zhou, S., Diaz, L. A., & Kinzler, K. W. (2013) · Science · doi:10.1126/science.1235122 · Cited by 7,863
Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia
The Cancer Genome Atlas Research Network (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1301689 · Cited by 5,078
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders
Baxter, E. J., Scott, L. M., Campbell, P. J., East, C., Fourouclas, N., Swanton, S., Vassiliou, G. S., Bench, A. J., Boyd, E. M., Curtin, N., et al. (2005) · The Lancet · doi:10.1016/s0140-6736(05)71142-9 · Cited by 3,548
Self-citation
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
James, C., Ugo, V., Couedic, J. P. L., Staerk, J., Delhommeau, F., Lacout, C., Garçon, L., Raslová, H., Berger, R., Griscelli, A. B., et al. (2005) · Nature · doi:10.1038/nature03546 · Cited by 3,542
A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
Kralovics, R., Passamonti, F., Buser, A. S., Teo, S.-S., Tiedt, R., Passweg, J. R., Tichelli, A., Cazzola, M., & Skoda, R. C. (2005) · New England Journal of Medicine · doi:10.1056/nejmoa051113 · Cited by 3,470
Immunogenic cell death and DAMPs in cancer therapy
Krysko, D. V., Garg, A. D., Kaczmarek, A., Krysko, O., Agostinis, P., & Vandenabeele, P. (2012) · Nature Reviews Cancer · doi:10.1038/nrc3380 · Cited by 3,223
Patterns of somatic mutation in human cancer genomes
Greenman, C. D., Stephens, P., Smith, R., Dalgliesh, G. L., Hunter, C., Bignell, G. R., Davies, H. R., Teague, J. W., Butler, A. P., Stevens, C., et al. (2007) · Nature · doi:10.1038/nature05610 · Cited by 3,062
Self-citation
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis
Levine, R. L., Wadleigh, M., Cools, J., Ebert, B. L., Wernig, G., Huntly, B. J. P., Boggon, T. J., Wlodarska, I., Clark, J. J., Moore, S., et al. (2005) · Cancer Cell · doi:10.1016/j.ccr.2005.03.023 · Cited by 2,993
Self-citation
Clinical and biological implications of driver mutations in myelodysplastic syndromes
Papaemmanuil, E., Gerstung, M., Malcovati, L., Tauro, S., Gundem, G., Van Loo, P., Yoon, C. J., Ellis, P., Wedge, D. C., Pellagatti, A., et al. (2013) · Blood · doi:10.1182/blood-2013-08-518886 · Cited by 1,832
Self-citation

Show all 40 references

Research works printed but not linked: 1

Chao MP, 2010, Sci Transl Med, 2, 63ra94

Sorted by citations

Guidelines on the Use of Therapeutic Apheresis in Clinical Practice – Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Eighth Special Issue
Padmanabhan, A., Connelly‐Smith, L. S., Aqui, N. A., Balogun, R. A., Klingel, R., Meyer, E., Pham, H. P., Schneiderman, J., Witt, V., Wu, Y., et al. (2019) · Journal of Clinical Apheresis · doi:10.1002/jca.21705 · Cited by 2,260
Age-related mutations associated with clonal hematopoietic expansion and malignancies
Xie, M., Lu, C., Wang, J., McLellan, M. D., Johnson, K. J., Wendl, M. C., McMichael, J. F., Schmidt, H. K., Yellapantula, V., Miller, C. A., et al. (2014) · Nature Medicine · doi:10.1038/nm.3733 · Cited by 1,874
Antigen presentation in cancer: insights into tumour immunogenicity and immune evasion
Jhunjhunwala, S., Hammer, C., & Delamarre, L. (2021) · Nature reviews. Cancer · doi:10.1038/s41568-021-00339-z · Cited by 1,570
SC3: consensus clustering of single-cell RNA-seq data
Kiselev, V. Y., Kirschner, K., Schaub, M. T., Andrews, T., Yiu, A., Chandra, T., Natarajan, K. N., Reik, W., Barahona, M., Green, A. R., et al. (2017) · Nature Methods · doi:10.1038/nmeth.4236 · Cited by 1,500
Self-citation
Clonal hematopoiesis in human aging and disease
Jaiswal, S., & Ebert, B. L. (2019) · Science · doi:10.1126/science.aan4673 · Cited by 1,156
“But many of the most commonly seen mutations in CHIP are also recurrent drivers of AML (65), myelodysplastic syndrome (MDS) (66–68), myeloproliferative neoplasms (69), and certain lymphomas (70, 71).”
Background
EASL Clinical Practice Guidelines: Vascular diseases of the liver
(2015) · Journal of Hepatology · doi:10.1016/j.jhep.2015.07.040 · Cited by 817
Guidelines on the Use of Therapeutic Apheresis in Clinical Practice–Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Seventh Special Issue
Schwartz, J. E., Padmanabhan, A., Aqui, N. A., Balogun, R. A., Connelly‐Smith, L. S., Delaney, M., Dunbar, N. M., Witt, V., Wu, Y., & Shaz, B. H. (2016) · Journal of Clinical Apheresis · doi:10.1002/jca.21470 · Cited by 799
Evolving cognition of the JAK-STAT signaling pathway: autoimmune disorders and cancer
Chen, X., Yao, Q., Gu, X., Shi, Q., Yuan, X., Chu, Q., Bao, Z., Lu, J., & Li, L. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01468-7 · Cited by 797
Long-term survival and blast transformation in molecularly annotated essential thrombocythemia, polycythemia vera, and myelofibrosis
Tefferi, A., Guglielmelli, P., Larson, D. R., Finke, C. M., Wassie, E. A., Pieri, L., Gangat, N., Fjerza, R., Belachew, A. A., Lasho, T. L., et al. (2014) · Blood · doi:10.1182/blood-2014-05-579136 · Cited by 748
Self-citation
Guidelines on the Use of Therapeutic Apheresis in Clinical Practice – Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Ninth Special Issue
Connelly‐Smith, L. S., Alquist, C. R., Aqui, N. A., Hofmann, J. C., Klingel, R., Onwuemene, O. A., Patriquin, C. J., Pham, H. P., Sanchez, A. P., Schneiderman, J., et al. (2023) · Journal of Clinical Apheresis · doi:10.1002/jca.22043 · Cited by 736
Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms
Vainchenker, W., & Královics, R. (2016) · Blood · doi:10.1182/blood-2016-10-695940 · Cited by 704
The 2016 WHO classification and diagnostic criteria for myeloproliferative neoplasms: document summary and in-depth discussion
Barbui, T., Thiele, J., Gisslinger, H., Kvasnicka, H. M., Vannucchi, A. M., Guglielmelli, P., Orazi, A., & Tefferi, A. (2018) · Blood Cancer Journal · doi:10.1038/s41408-018-0054-y · Cited by 644
Self-citation
The role of JAK/STAT signalling in the pathogenesis, prognosis and treatment of solid tumours
Thomas, S. J., Snowden, J. A., Zeidler, M. P., & Danson, S. J. (2015) · British Journal of Cancer · doi:10.1038/bjc.2015.233 · Cited by 661
Clonal evolution and clinical correlates of somatic mutations in myeloproliferative neoplasms
Lundberg, P., Karow, A., Nienhold, R., Looser, R., Hao-Shen, H., Nissen, I., Girsberger, S., Lehmann, T., Passweg, J. R., Stern, M., et al. (2014) · Blood · doi:10.1182/blood-2013-11-537167 · Cited by 661
Classification and Personalized Prognosis in Myeloproliferative Neoplasms
Grinfeld, J., Nangalia, J., Baxter, E. J., Wedge, D. C., Angelopoulos, N., Cantrill, R., Godfrey, A. L., Papaemmanuil, E., Gundem, G., MacLean, C., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1716614 · Cited by 655
Self-citation
Guidelines on the Use of Therapeutic Apheresis in Clinical Practice—Evidence‐Based Approach from the Writing Committee of the American Society for Apheresis: The Sixth Special Issue
Schwartz, J. E., Winters, J. L., Padmanabhan, A., Balogun, R. A., Delaney, M., Linenberger, M. L., Szczepiorkowski, Z. M., Williams, M. E., Wu, Y., & Shaz, B. H. (2013) · Journal of Clinical Apheresis · doi:10.1002/jca.21276 · Cited by 610
JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes
Rumi, E., Pietra, D., Ferretti, V. V., Klampfl, T., Harutyunyan, A. S., Feenstra, J. D. M., Them, N. C. C., Berg, T., Elena, C., Casetti, I. C., et al. (2013) · Blood · doi:10.1182/blood-2013-11-539098 · Cited by 602
Effect of Mutation Order on Myeloproliferative Neoplasms
Ortmann, C. A., Kent, D. G., Nangalia, J., Silber, Y., Wedge, D. C., Grinfeld, J., Baxter, E. J., Massie, C. E., Papaemmanuil, E., Menon, S., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1412098 · Cited by 607
Self-citation
Philadelphia chromosome-negative classical myeloproliferative neoplasms: revised management recommendations from European LeukemiaNet
Barbui, T., Tefferi, A., Vannucchi, A. M., Passamonti, F., Silver, R. T., Hoffman, R., Verstovšek, S., Mesa, R. A., Kiladjian, J., Hehlmann, R., et al. (2018) · Leukemia · doi:10.1038/s41375-018-0077-1 · Cited by 592
Self-citation
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
Van Hout, C. V., Tachmazidou, I., Backman, J. D., Hoffman, J. D., Liu, D., Pandey, A. K., Gonzaga-Jauregui, C., Khalid, S., Ye, B., Banerjee, N., et al. (2020) · Nature · doi:10.1038/s41586-020-2853-0 · Cited by 561
CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons
Tefferi, A., Lasho, T. L., Finke, C. M., Knudson, R. A., Ketterling, R. P., Hanson, C., Maffioli, M., Caramazza, D., Passamonti, F., & Pardanani, A. D. (2014) · Leukemia · doi:10.1038/leu.2014.3 · Cited by 547
Safety and Efficacy of Fedratinib in Patients With Primary or Secondary Myelofibrosis
Pardanani, A. D., Harrison, C. N., Cortes, J. E., Cervantes, F., Mesa, R. A., Milligan, D. W., Masszi, T., Mishchenko, E., Jourdan, É., Vannucchi, A. M., et al. (2015) · JAMA Oncology · doi:10.1001/jamaoncol.2015.1590 · Cited by 497
Self-citation
Paroxysmal nocturnal haemoglobinuria
Hill, A., Dezern, A. E., Kinoshita, T., & Brodsky, R. A. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.28 · Cited by 471
Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms
Arranz, L., Sánchez-Aguilera, A., Martín-Pérez, D., Isern, J., Langa, X., Tzankov, A., Lundberg, P., Muntión, S., Tzeng, Y.-S., Lai, D.-M., et al. (2014) · Nature · doi:10.1038/nature13383 · Cited by 444
Integrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neoplasm pathogenesis
Rampal, R. K., Al‐Shahrour, F., Abdel-Wahab, O. I., Patel, J. P., Brunel, J.-P., Mermel, C. H., Bass, A. J., Pretz, J. L., Ahn, J., Hricik, T., et al. (2014) · Blood · doi:10.1182/blood-2014-02-554634 · Cited by 444
Impact of calreticulin mutations on clinical and hematological phenotype and outcome in essential thrombocythemia
Rotunno, G., Mannarelli, C., Guglielmelli, P., Pacilli, A., Pancrazzi, A., Pieri, L., Fanelli, T., Bosi, A., & Vannucchi, A. M. (2013) · Blood · doi:10.1182/blood-2013-11-538983 · Cited by 415
Self-citation
Calreticulin and cancer
Fucikova, J. P., Špíšek, R., Kroemer, G., & Galluzzi, L. (2020) · Cell Research · doi:10.1038/s41422-020-0383-9 · Cited by 422
Myeloproliferative Neoplasms
Spivak, J. L. (2017) · New England Journal of Medicine · doi:10.1056/nejmra1406186 · Cited by 404
Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis
Rumi, E., Pietra, D., Pascutto, C., Guglielmelli, P., Martínez‐Trillos, A., Casetti, I. C., Colomer, D., Pieri, L., Pratcorona, M., Rotunno, G., et al. (2014) · Blood · doi:10.1182/blood-2014-05-578435 · Cited by 397
Self-citation
Polycythemia vera and essential thrombocythemia: 2021 update on diagnosis, risk‐stratification and management
Tefferi, A., & Barbui, T. (2020) · American Journal of Hematology · doi:10.1002/ajh.26008 · Cited by 365
Thrombopoietin receptor activation by myeloproliferative neoplasm associated calreticulin mutants
Chachoua, I., Pecquet, C., El-Khoury, M., Nivarthi, H., Albu, R.-I., Marty, C., Gryshkova, V., Defour, J., Vertenoeil, G., Ngo, A., et al. (2015) · Blood · doi:10.1182/blood-2015-11-681932 · Cited by 351
Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor
Islam, S. M. A., Díaz‐Gay, M., Wu, Y., Barnes, M. D., Vangara, R., Bergstrom, E. N., He, Y., Vella, M., Wang, J., Teague, J. W., et al. (2022) · Cell Genomics · doi:10.1016/j.xgen.2022.100179 · Cited by 364
Self-citation
Myeloproliferative Neoplasms
Tefferi, A., & Pardanani, A. D. (2015) · JAMA Oncology · doi:10.1001/jamaoncol.2015.89 · Cited by 354
Janus kinase-2 inhibitor fedratinib in patients with myelofibrosis previously treated with ruxolitinib (JAKARTA-2): a single-arm, open-label, non-randomised, phase 2, multicentre study
Harrison, C. N., Schaap, N. P., Vannucchi, A. M., Kiladjian, J., Tiu, R. V., Zachée, P., Jourdan, É., Winton, E. F., Silver, R. T., Schouten, H. C., et al. (2017) · The Lancet Haematology · doi:10.1016/s2352-3026(17)30088-1 · Cited by 349
Self-citation
Efficacy, safety, and survival with ruxolitinib in patients with myelofibrosis: results of a median 3-year follow-up of COMFORT-I
Verstovšek, S., Mesa, R. A., Gotlib, J. R., Levy, R. S., Gupta, V. K., DiPersio, J. F., Catalano, J. V., Deininger, M. W., Miller, C. B., Silver, R. T., et al. (2015) · Haematologica · doi:10.3324/haematol.2014.115840 · Cited by 339
Somatic mutations and cell identity linked by Genotyping of Transcriptomes
Nam, A. S., Kim, K.-T., Chaligne, R., Izzo, F., Ang, C., Taylor, J., Myers, R. M., Abu-Zeinah, G., Brand, R., Omans, N. D., et al. (2019) · Nature · doi:10.1038/s41586-019-1367-0 · Cited by 333
Myelodysplastic Syndromes Are Propagated by Rare and Distinct Human Cancer Stem Cells In Vivo
Woll, P. S., Kjällquist, U., Chowdhury, O., Doolittle, H., Wedge, D. C., Thongjuea, S., Erlandsson, R., Ngara, M., Anderson, K., Deng, Q., et al. (2014) · Cancer Cell · doi:10.1016/j.ccr.2014.03.036 · Cited by 333
Self-citation
JAK–STAT Pathway Activation in Malignant and Nonmalignant Cells Contributes to MPN Pathogenesis and Therapeutic Response
Kleppe, M., Kwak, M., Koppikar, P., Riester, M., Keller, M., Bastian, L., Hricik, T., Bhagwat, N., McKenney, A. S., Papalexi, E., et al. (2015) · Cancer Discovery · doi:10.1158/2159-8290.cd-14-0736 · Cited by 325
Targeted deep sequencing in polycythemia vera and essential thrombocythemia
Tefferi, A., Lasho, T. L., Guglielmelli, P., Finke, C. M., Rotunno, G., Elala, Y. C., Pacilli, A., Hanson, C. A., Pancrazzi, A., Ketterling, R. P., et al. (2016) · Blood Advances · doi:10.1182/bloodadvances.2016000216 · Cited by 324
Self-citation
The number of prognostically detrimental mutations and prognosis in primary myelofibrosis: an international study of 797 patients
Guglielmelli, P., Lasho, T. L., Rotunno, G., Score, J., Mannarelli, C., Pancrazzi, A., Biamonte, F., Pardanani, A. D., Zoi, K., Reiter, A., et al. (2014) · Leukemia · doi:10.1038/leu.2014.76 · Cited by 311
Self-citation
Differential clinical effects of different mutation subtypes in CALR-mutant myeloproliferative neoplasms
Pietra, D., Rumi, E., Ferretti, V. V., Buduo, C. A. D., Milanesi, C., Cavalloni, C., Sant’Antonio, E., Abbonante, V., Moccia, F. D., Casetti, I. C., et al. (2015) · Leukemia · doi:10.1038/leu.2015.277 · Cited by 306
Genomic and functional analysis of leukemic transformation of myeloproliferative neoplasms
Rampal, R., Ahn, J., Abdel-Wahab, O., Nahas, M., Wang, K., Lipson, D., Otto, G. A., Yelensky, R., Hricik, T., McKenney, A. S., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1407792111 · Cited by 301
Activation of the thrombopoietin receptor by mutant calreticulin in CALR-mutant myeloproliferative neoplasms
Araki, M., Yang, Y., Masubuchi, N., Hironaka, Y., Takei, H., Morishita, S., Mizukami, Y., Kan, S., Shirane, S., Edahiro, Y., et al. (2016) · Blood · doi:10.1182/blood-2015-09-671172 · Cited by 319
Mutant Calreticulin Requires Both Its Mutant C-terminus and the Thrombopoietin Receptor for Oncogenic Transformation
Elf, S., Abdelfattah, N. S., Chen, E., Perales-Patón, J., Rosen, E. A., Ko, A., Peisker, F., Florescu, N., Giannini, S., Wolach, O., et al. (2016) · Cancer Discovery · doi:10.1158/2159-8290.cd-15-1434 · Cited by 293
Life histories of myeloproliferative neoplasms inferred from phylogenies
Williams, N., Lee, J., Mitchell, E., Moore, L., Baxter, E. J., Hewinson, J., Dawson, K. J., Menzies, A., Godfrey, A. L., Green, A. R., et al. (2022) · Nature · doi:10.1038/s41586-021-04312-6 · Cited by 285
Self-citation
Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms
Feenstra, J. D. M., Nivarthi, H., Gisslinger, H., Leroy, E., Rumi, E., Chachoua, I., Bagienski, K., Kubešová, B., Pietra, D., Gisslinger, B., et al. (2015) · Blood · doi:10.1182/blood-2015-07-661835 · Cited by 292
Indication and management of allogeneic stem cell transplantation in primary myelofibrosis: a consensus process by an EBMT/ELN international working group
Kröger, N. M., Deeg, H. J., Olavarría, E., Niederwieser, D. W., Bacigalupo, A. P., Barbui, T., Rambaldi, A., Mesa, R. A., Tefferi, A., Grießhammer, M., et al. (2015) · Leukemia · doi:10.1038/leu.2015.233 · Cited by 279
Self-citation
Dual Targeting of Oncogenic Activation and Inflammatory Signaling Increases Therapeutic Efficacy in Myeloproliferative Neoplasms
Kleppe, M., Koche, R., Zou, L., van Galen, P., Hill, C. E., Dong, L., De Groote, S., Papalexi, E., Hanasoge Somasundara, A. V., Cordner, K., et al. (2018) · Cancer Cell · doi:10.1016/j.ccell.2017.11.009 · Cited by 279
CALR and ASXL1 mutations-based molecular prognostication in primary myelofibrosis: an international study of 570 patients
Tefferi, A., Guglielmelli, P., Lasho, T. L., Rotunno, G., Finke, C. M., Mannarelli, C., Belachew, A. A., Pancrazzi, A., Wassie, E. A., Ketterling, R. P., et al. (2014) · Leukemia · doi:10.1038/leu.2014.57 · Cited by 279
Self-citation
Calreticulin mutants in mice induce an MPL-dependent thrombocytosis with frequent progression to myelofibrosis
Marty, C., Pecquet, C., Nivarthi, H., El-Khoury, M., Chachoua, I., Tulliez, M., Villeval, J., Raslová, H., Královics, R., Constantinescu, S. N., et al. (2015) · Blood · doi:10.1182/blood-2015-11-679571 · Cited by 274
Gli1+ Mesenchymal Stromal Cells Are a Key Driver of Bone Marrow Fibrosis and an Important Cellular Therapeutic Target
Schneider, R. K., Mullally, A., Dugourd, A. J. F., Peisker, F., Hoogenboezem, R. M., van Strien, P. M. H., Bindels, E. M., Heckl, D., Büsche, G., Fleck, D., et al. (2017) · Cell stem cell · doi:10.1016/j.stem.2017.03.008 · Cited by 281
Risk for Arterial and Venous Thrombosis in Patients With Myeloproliferative Neoplasms: A Population-Based Cohort Study
Hultcrantz, M., Björkholm, M., Dickman, P. W., Landgren, O., Derolf, Å. R., Kristinsson, S. Y., & Andersson, T. M. L. (2018) · Annals of Internal Medicine · doi:10.7326/m17-0028 · Cited by 268
Polycythemia vera and essential thrombocythemia: 2015 update on diagnosis, risk‐stratification and management
Tefferi, A., & Barbui, T. (2015) · American Journal of Hematology · doi:10.1002/ajh.23895 · Cited by 268
Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms
Hinds, D. A., Barnholt, K. E., Mesa, R. A., Kiefer, A. K., Do, C. B., Eriksson, N., Mountain, J. L., Francke, U., Tung, J. Y., Nguyen, H. (., et al. (2016) · Blood · doi:10.1182/blood-2015-06-652941 · Cited by 267
Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms
Rumi, E., & Cazzola, M. (2016) · Blood · doi:10.1182/blood-2016-10-695957 · Cited by 263
Diagnosis and classification of hematologic malignancies on the basis of genetics
Taylor, J., Xiao, W., & Abdel-Wahab, O. I. (2017) · Blood · doi:10.1182/blood-2017-02-734541 · Cited by 260
Blast transformation and fibrotic progression in polycythemia vera and essential thrombocythemia: a literature review of incidence and risk factors
Cerquozzi, S., & Tefferi, A. (2015) · Blood Cancer Journal · doi:10.1038/bcj.2015.95 · Cited by 249
Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk‐stratification and management
Tefferi, A., & Barbui, T. (2018) · American Journal of Hematology · doi:10.1002/ajh.25303 · Cited by 240
How common are myeloproliferative neoplasms? A systematic review and meta‐analysis
Titmarsh, G. J., Duncombe, A. S., McMullin, M. F., O’Rorke, M. A., Mesa, R. A., de Vocht, F., Horan, S., Fritschi, L., Clarke, M. J., & Anderson, L. A. (2014) · American Journal of Hematology · doi:10.1002/ajh.23690 · Cited by 235
Polycythemia vera and essential thrombocythemia: 2017 update on diagnosis, risk‐stratification, and management
Tefferi, A., & Barbui, T. (2016) · American Journal of Hematology · doi:10.1002/ajh.24607 · Cited by 233
A humanized bone marrow ossicle xenotransplantation model enables improved engraftment of healthy and leukemic human hematopoietic cells
Reinisch, A., Thomas, D., Corces, M. R., Zhang, X., Gratzinger, D. A., Hong, W., Schallmoser, K., Strunk, D., & Majeti, R. (2016) · Nature Medicine · doi:10.1038/nm.4103 · Cited by 229
JAK-STAT signaling in cancer: From cytokines to non-coding genome
Pěnčík, J., Pham, H. T. T., Schmoellerl, J., Javaheri, T., Schlederer, M., Čulig, Z., Merkel, O., Moriggl, R., Grebien, F., & Kenner, L. (2016) · Cytokine · doi:10.1016/j.cyto.2016.06.017 · Cited by 221
Type 1 versus Type 2 calreticulin mutations in essential thrombocythemia: A collaborative study of 1027 patients
Tefferi, A., Wassie, E. A., Guglielmelli, P., Gangat, N., Belachew, A. A., Lasho, T. L., Finke, C. M., Ketterling, R. P., Hanson, C. A., Pardanani, A. D., et al. (2014) · American Journal of Hematology · doi:10.1002/ajh.23743 · Cited by 216
Self-citation
An overview on CALR and CSF3R mutations and a proposal for revision of WHO diagnostic criteria for myeloproliferative neoplasms
Tefferi, A., Thiele, J., Vannucchi, A. M., & Barbui, T. (2014) · Leukemia · doi:10.1038/leu.2014.35 · Cited by 216
Self-citation
Cordua S, Kjaer L, Skov V, Pallisgaard N, Hasselbalch HC, Ellervik C. Prevalence and phenotypes of JAK2 V617F and calreticulin mutations in a Danish general population. Blood. 2019;134(5):469-479.
Cordua, S., Kjær, L., Skov, V., Pallisgaard, N., Hasselbalch, H. C., & Ellervik, C. (2019) · Blood · doi:10.1182/blood.2019001113 · Cited by 216
Shared Immunogenic Poly-Epitope Frameshift Mutations in Microsatellite Unstable Tumors
Roudko, V., Bozkus, C. C., Orfanelli, T., McClain, C. B., Carr, C. E., O’Donnell, T. J., Chakraborty, L., Samstein, R. M., Huang, K., Blank, S. V., et al. (2020) · Cell · doi:10.1016/j.cell.2020.11.004 · Cited by 217
MPNs as Inflammatory Diseases: The Evidence, Consequences, and Perspectives
Hasselbalch, H. C., & Bjørn, M. E. (2015) · Mediators of Inflammation · doi:10.1155/2015/102476 · Cited by 213
A membrane-associated MHC-I inhibitory axis for cancer immune evasion
Chen, X., Qiao, L., Zhou, H., Liu, J., Nadorp, B., Lasry, A., Sun, Z., Lai, B., Róna, G., Zhang, J., et al. (2023) · Cell · doi:10.1016/j.cell.2023.07.016 · Cited by 211
Atypical chronic myeloid leukemia is clinically distinct from unclassifiable myelodysplastic/myeloproliferative neoplasms
Wang, S. A., Hasserjian, R. P., Fox, P. S., Rogers, H. J., Geyer, J. T., Chabot‐Richards, D., Weinzierl, E. P., Hatem, J., Jaso, J. M., Kanagal‐Shamanna, R., et al. (2014) · Blood · doi:10.1182/blood-2014-02-553800 · Cited by 205
From Janus kinase 2 to calreticulin: the clinically relevant genomic landscape of myeloproliferative neoplasms
Cazzola, M., & Královics, R. (2014) · Blood · doi:10.1182/blood-2014-03-530865 · Cited by 202
Telomerase Inhibitor Imetelstat in Patients with Essential Thrombocythemia
Baerlocher, G. M., Leibundgut, E. O., Ottmann, O. G., Spitzer, G., Odenike, O. M., McDevitt, M. A., Röth, A., Daskalakis, M., Burington, B. E., Stuart, M. J., et al. (2015) · New England Journal of Medicine · doi:10.1056/nejmoa1503479 · Cited by 199
Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients
Cabagnols, X., Favale, F., Pasquier, F., Messaoudi, K., Defour, J., Ianotto, J., Marzac, C., Couedic, J. P. L., Droin, N. M., Chachoua, I., et al. (2015) · Blood · doi:10.1182/blood-2015-07-661983 · Cited by 206
Bone marrow fibrosis in myelofibrosis: pathogenesis, prognosis and targeted strategies
Zahr, A. A., Salama, M. E., Carreau, N. A., Tremblay, D. A., Verstovšek, S., Mesa, R. A., Hoffman, R., & Mascarenhas, J. O. (2016) · Haematologica · doi:10.3324/haematol.2015.141283 · Cited by 205
Comprehensive clinical-molecular transplant scoring system for myelofibrosis undergoing stem cell transplantation
Gagelmann, N., Ditschkowski, M., Bogdanov, R., Bredin, S., Robin, M., Cassinat, B., Shahswar, R., Thol, F. R., Heuser, M., Socié, G., et al. (2019) · Blood · doi:10.1182/blood-2018-12-890889 · Cited by 189
Bleeding, thrombosis, and anticoagulation in myeloproliferative neoplasms (MPN): analysis from the German SAL-MPN-registry
for the Study Alliance Leukemia (SAL), Kaifie, A., Kirschner, M., Wolf, D. G. F., Maintz, C., Hänel, M., Gattermann, N., Goekkurt, E., Platzbecker, U., Hollburg, W., et al. (2016) · Journal of Hematology & Oncology · doi:10.1186/s13045-016-0242-9 · Cited by 185
Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific Targets
Psaila, B., Wang, G., Rodriguez-Meira, A., Li, R., Heuston, E. F., Murphy, L., Yee, D., Hitchcock, I. S., Sousos, N., O’Sullivan, J., et al. (2020) · Molecular Cell · doi:10.1016/j.molcel.2020.04.008 · Cited by 185
Clonal hematopoiesis and non-hematologic disorders
Jaiswal, S. (2020) · Blood · doi:10.1182/blood.2019000989 · Cited by 182
Validation and Implementation of a Custom Next-Generation Sequencing Clinical Assay for Hematologic Malignancies
Kluk, M., Lindsley, R. C., Aster, J. C., Lindeman, N. I., Szeto, D. P., Hall, D., & Kuo, F. C. (2016) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2016.02.003 · Cited by 180
Myeloproliferative neoplasm stem cells
Mead, A. J., & Mullally, A. (2017) · Blood · doi:10.1182/blood-2016-10-696005 · Cited by 187
Myeloproliferative neoplasms: A decade of discoveries and treatment advances
Tefferi, A. (2015) · American Journal of Hematology · doi:10.1002/ajh.24221 · Cited by 186
N‐Glycan‐based ER Molecular Chaperone and Protein Quality Control System: The Calnexin Binding Cycle
Lamriben, L., Graham, J. B., Adams, B. M., & Hebert, D. N. (2015) · Traffic · doi:10.1111/tra.12358 · Cited by 184
Genetic basis and molecular profiling in myeloproliferative neoplasms
Paz, D. L., Královics, R., & Skoda, R. C. (2022) · Blood · doi:10.1182/blood.2022017578 · Cited by 189
The effect of long-term ruxolitinib treatment on JAK2p.V617F allele burden in patients with myelofibrosis
Deininger, M., Radich, J., Burn, T. C., Huber, R., Paranagama, D., & Verstovsek, S. (2015) · Blood · doi:10.1182/blood-2015-03-635235 · Cited by 173
Myeloproliferative neoplasms and inflammation: whether to target the malignant clone or the inflammatory process or both
Koschmieder, S., Mughal, T. I., Hasselbalch, H. C., Barosi, G., Valent, P., Kiladjian, J., Jeryczynski, G., Gisslinger, H., Jutzi, J. S., Pahl, H. L., et al. (2016) · Leukemia · doi:10.1038/leu.2016.12 · Cited by 179
Self-citation
Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia
Shiozawa, Y., Malcovati, L., Gallì, A., Sato‐Otsubo, A., Kataoka, K., Sato, Y., Watatani, Y., Suzuki, H., Yoshizato, T., Yoshida, K., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-06063-x · Cited by 179
3023 Mayo Clinic Patients With Myeloproliferative Neoplasms: Risk-Stratified Comparison of Survival and Outcomes Data Among Disease Subgroups
Szuber, N., Mudireddy, M., Nicolosi, M., Penna, D., Vallapureddy, R. R., Lasho, T. L., Finke, C. M., Begna, K. H., Elliott, M. A., Hook, C. C., et al. (2019) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2018.08.022 · Cited by 172
Leptin-receptor-expressing bone marrow stromal cells are myofibroblasts in primary myelofibrosis
Decker, M., Martínez-Morentin, L., Wang, G., Lee, Y., Liu, Q., Leslie, J. S., & Ding, L. (2017) · Nature Cell Biology · doi:10.1038/ncb3530 · Cited by 175
Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms
Tapper, W., Jones, A. V., Královics, R., Harutyunyan, A. S., Zoi, K., Leung, W. C. Y., Godfrey, A. L., Guglielmelli, P., Callaway, A., Ward, D., et al. (2015) · Nature Communications · doi:10.1038/ncomms7691 · Cited by 175
Self-citation
JAK inhibitors for the treatment of myeloproliferative neoplasms and other disorders
Vainchenker, W., Leroy, E., Gilles, L., Marty, C., Plo, I., & Constantinescu, S. N. (2018) · F1000Research · doi:10.12688/f1000research.13167.1 · Cited by 167
Molecular Pathways: Molecular Basis for Sensitivity and Resistance to JAK Kinase Inhibitors
Meyer, S. C., & Levine, R. L. (2014) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-13-0279 · Cited by 168
Clinical and molecular response to interferon-α therapy in essential thrombocythemia patients with CALR mutations
Verger, E., Cassinat, B., Chauveau, A., Dosquet, C., Giraudier, S., Schlageter, M., Ianotto, J., Yassin, M. A., Al-Dewik, N. I. E., Carillo, S., et al. (2015) · Blood · doi:10.1182/blood-2015-07-659060 · Cited by 176
Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management
Tefferi, A., Vannucchi, A. M., & Barbui, T. (2024) · American Journal of Hematology · doi:10.1002/ajh.27216 · Cited by 172
Self-citation
How I treat myelofibrosis
Cervantes, F. (2014) · Blood · doi:10.1182/blood-2014-07-575373 · Cited by 164
CHZ868, a Type II JAK2 Inhibitor, Reverses Type I JAK Inhibitor Persistence and Demonstrates Efficacy in Myeloproliferative Neoplasms
Meyer, S. C., Keller, M. D., Chiu, S., Koppikar, P., Guryanova, O. A., Rapaport, F., Xu, K., Manova, K., Pankov, D., O’Reilly, R. J., et al. (2015) · Cancer Cell · doi:10.1016/j.ccell.2015.06.006 · Cited by 166
Myeloproliferative neoplasms: from origins to outcomes
Nangalia, J., & Green, A. R. (2017) · Blood · doi:10.1182/blood-2017-06-782037 · Cited by 167
Self-citation
The prognostic advantage of calreticulin mutations in myelofibrosis might be confined to type 1 or type 1-like CALR variants
Tefferi, A., Lasho, T. L., Tischer, A., Wassie, E. A., Finke, C. M., Belachew, A. A., Ketterling, R. P., Hanson, C. A., & Pardanani, A. D. (2014) · Blood · doi:10.1182/blood-2014-07-588426 · Cited by 159
Type 1 vs type 2 calreticulin mutations in primary myelofibrosis: differences in phenotype and prognostic impact
Tefferi, A., Lasho, T. L., Finke, C. M., Belachew, A. A., Wassie, E. A., Ketterling, R. P., Hanson, C. A., & Pardanani, A. D. (2014) · Leukemia · doi:10.1038/leu.2014.83 · Cited by 158
Splicing factor mutations and cancer
Yoshida, K., & Ogawa, S. (2014) · WIREs RNA · doi:10.1002/wrna.1222 · Cited by 155
Introduction to a review series: the 2016 revision of the WHO classification of tumors of hematopoietic and lymphoid tissues
Cazzola, M. (2016) · Blood · doi:10.1182/blood-2016-03-657379 · Cited by 158
Antiplatelet therapy versus observation in low-risk essential thrombocythemia with a CALR mutation
Álvarez‐Larrán, A., Pereira, A., Guglielmelli, P., Hernández‐Boluda, J. C., Arellano‐Rodrigo, E., Ferrer‐Marín, F., Alimam, S., Grießhammer, M., Kerguelen, A., Andréasson, B., et al. (2016) · Haematologica · doi:10.3324/haematol.2016.146654 · Cited by 155
Self-citation

Authors: Nangalia, J., Massie, C. E., Baxter, E. J., Nice, F. L., Gundem, G., Wedge, D. C., Avezov, E., Li, J., Kollmann, K., Kent, D. G., Aziz, A., Godfrey, A. L., Hinton, J., Martincorena, I., Van Loo, P., Jones, A. V., Guglielmelli, P., Tarpey, P., Harding, H. P., Fitzpatrick, J. D., Goudie, C. T., Ortmann, C. A., Loughran, S. J., Raine, K., Jones, D. R., Butler, A. P., Teague, J. W., O'Meara, S., McLaren, S., Bianchi, M., Silber, Y., Dimitropoulou, D., Bloxham, D., Mudie, L., Maddison, M., Robinson, B., Keohane, C., Maclean, C., Hill, K., Orchard, K., Tauro, S., Du, M.-Q., Greaves, M., Bowen, D., Huntly, B. J. P., Harrison, C. N., Cross, N. C. P., Ron, D., Vannucchi, A. M., Papaemmanuil, E., Campbell, P. J., & Green, A. R.
ORCID: Nangalia, J.
Massie, C.E.
Baxter, E.J.
Nice, F.L.
Gundem, G.
Wedge, D.C.
Avezov, E.
Kollmann, K.
Kent, D.G.
Godfrey, A.L.
Hinton, J.
Martincorena, I.
Jones, A.V.
Guglielmelli, P.
Tarpey, P.
Harding, H.P.
Fitzpatrick, J.D.
Loughran, S.J.
Raine, K.
Jones, D.R.
Teague, J.W.
McLaren, S.
Hill, K.
Orchard, K.
Du, M.-Q.
Greaves, M.
Bowen, D.
Huntly, B.J.P.
Harrison, C.N.
Cross, N.C.P.
Ron, D.
Vannucchi, A.M.
Papaemmanuil, E.
Campbell, P.J.
Green, A.R.
Venue: New England Journal of Medicine
Publisher: Massachusetts Medical Society
Published: 2013-12-19
Volume: 369
Issue: 25
Pages: 2391-2405
ISSN: 0028-4793 (ISSN-L)
1533-4406
DOI: 10.1056/nejmoa1312542
PMC: PMC3966280
OpenAlex: W2138709799
Cited by: 1,756
References: 40
Citations by year: 2026: 64 · 2025: 59 · 2024: 72 · 2023: 90 · 2022: 112 · 2021: 133 · 2020: 125 · 2019: 124 · 2018: 130 · 2017: 181 · 2016: 208 · 2015: 239 · 2014: 208 · 2013: 7
FWCI: 108.50
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: New England Journal of Medicine (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
University of Salford Institutional Repository (University of Salford) (submittedVersion, cc-by)
Discovery Research Portal (University of Dundee) (submittedVersion)
ePrints Soton (University of Southampton) (submittedVersion)
Florence Research (University of Florence) (submittedVersion)
Lirias (KU Leuven) (submittedVersion)
Research Explorer (The University of Manchester) (submittedVersion)
Radboud Repository (Radboud University) (submittedVersion)
Funders: Leukemia and Lymphoma Society
Leukemia and Lymphoma Research
University of Salford Manchester
Wellcome Trust (079249, 100140, 093867, 084812)
University Hospital Southampton NHS Foundation Trust
Cancer Research UK (12526, 12765, 15488)
National Institute for Health and Care Research (NF-SI-0512-10079)
Kay Kendall Leukaemia Fund
University of Southampton
KU Leuven
Università degli Studi di Firenze
Associazione Italiana per la Ricerca sul Cancro
Vlaamse regering
Canadian Institutes of Health Research
Medical Research Council
Cambridge Institute for Medical Research, University of Cambridge
NIHR Cambridge Biomedical Research Centre
Dipartimento di Medicina Sperimentale e Clinica, Università degli Studi di Firenze
Topics: Health Sciences › Medicine › Hematology › Myeloproliferative Neoplasms: Diagnosis and Treatment
Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
Health Sciences › Medicine › Hematology › Platelet Disorders and Treatments
Keywords: calreticulin, CALR mutation, myeloproliferative neoplasms, polycythemia vera, essential thrombocythemia, myelofibrosis, myelodysplastic syndrome, endoplasmic reticulum chaperone, clonal evolution, hematopoietic stem and progenitor cells, somatic mutations
MeSH terms: Amino Acid Sequence, Bone Marrow Diseases, Exons, Humans, Leukemia, Myeloid, Molecular Sequence Data, Mutation, Myelodysplastic Syndromes, Neoplasms, Thrombocythemia, Essential, Polymerase Chain Reaction, Sequence Analysis, DNA, Calreticulin, Janus Kinase 2, Primary Myelofibrosis

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks