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

Items 901–1,000 of 1,002

Essential Thrombocythemia Complicated by Occlusive Thrombosis of the Abdominal Aorta
Geringer, J. L., Fenderson, J. L., & Osswald, M. B. (2019) · Case Reports in Hematology · doi:10.1155/2019/9454501 · Cited by 11
Mutational profiling in myelofibrosis: implications for management
Bose, P., & Verstovšek, S. (2019) · International Journal of Hematology · doi:10.1007/s12185-019-02758-z · Cited by 11
Healthy Donors Harbor Memory T Cell Responses to RAS Neo-Antigens
Holmström, M. O., & Andersen, M. H. (2020) · Cancers · doi:10.3390/cancers12103045 · Cited by 11
Theranostic Potentials of Gold Nanomaterials in Hematological Malignancies
Shakil, M. S., Niloy, M. S., Mahmud, K. M., Kamal, M. A., & Islam, M. A. (2022) · Cancers · doi:10.3390/cancers14133047 · Cited by 11
Exploring the Molecular Landscape of Myelofibrosis, with a Focus on Ras and Mitogen-Activated Protein (MAP) Kinase Signaling
Reynolds, S. B., Pettit, K. M., Kandarpa, M., Talpaz, M., & Li, Q. (2023) · Cancers · doi:10.3390/cancers15184654 · Cited by 11
Calreticulin mutation profile in Indian patients with primary myelofibrosis
Sazawal, S., Singh, N., Mahapatra, M., & Saxena, R. (2015) · Hematology · doi:10.1179/1607845415y.0000000018 · Cited by 11
PDGFB hypomethylation is a favourable prognostic biomarker in primary myelofibrosis
Augello, C., Gianelli, U., Falcone, R., Tabano, S. M., Savi, F., Bonaparte, E., Ciboddo, M., Paganini, L., Parafioriti, A., Ricca, D., et al. (2014) · Leukemia Research · doi:10.1016/j.leukres.2014.11.012 · Cited by 11
The Burden of JAK2V617F Mutated Allele in Turkish Patients With Myeloproliferative Neoplasms
Hindilerden, İ. Y., Aday, A. D., Akadam-Teker, B., Yılmaz, C., Nalçacı, M., Yavuz, A. S., & Sargın, D. (2014) · Journal of Clinical Medicine Research · doi:10.14740/jocmr2047w · Cited by 11
Tetraspanin CD9 participates in dysmegakaryopoiesis and stromal interactions in primary myelofibrosis
Desterke, C., Martinaud, C., Guerton, B., Pieri, L., Bogani, C., Clay, D., Torossian, F., Lataillade, J., Hasselbach, H. C., Gisslinger, H., et al. (2015) · Haematologica · doi:10.3324/haematol.2014.118497 · Cited by 11
Self-citation
Proteomic analysis of JAK2V617F-induced changes identifies potential new combinatorial therapeutic approaches
Pearson, S., Williamson, A. J. K., Blance, R., Somervaille, T. C. P., Taylor, S. S., Azadbakht, N., Whetton, A. D., & Pierce, A. (2017) · Leukemia · doi:10.1038/leu.2017.143 · Cited by 11
The JAK2V617F and CALR exon 9 mutations are shared immunogenic neoantigens in hematological malignancy
Holmström, M. O., Hasselbalch, H. C., & Andersen, M. H. (2017) · OncoImmunology · doi:10.1080/2162402x.2017.1358334 · Cited by 11
Development of a Targeted Next-Generation Sequencing Assay to Detect Diagnostically Relevant Mutations of JAK2 , CALR , and MPL in Myeloproliferative Neoplasms
Frawley, T. F., O’Brien, C. P., Conneally, E., Vandenberghe, E., Percy, M. J., Langabeer, S. E., & Haslam, K. (2018) · Genetic Testing and Molecular Biomarkers · doi:10.1089/gtmb.2017.0203 · Cited by 11
Recent advances in the genomics and therapy of BCR/ABL1 -positive and -negative chronic myeloproliferative neoplasms
Mughal, T. I., Gotlib, J. R., Mesa, R. A., Koschmieder, S., Khoury, H. J., Cortes, J. E., Barbui, T., Hehlmann, R., Mauro, M. J., Saußele, S., et al. (2018) · Leukemia Research · doi:10.1016/j.leukres.2018.02.008 · Cited by 11
DETECTION OF CALR MUTATIONS USING HIGH RESOLUTION MELTING CURVE ANALYSIS (HRM-A); APPLICATION ON A LARGE COHORT OF GREEK ET AND MF PATIENTS
Giannopoulos, A., Rougkala, N., Loupis, T., Mantzourani, M., Viniou, N., Variami, E., Vassilakopoulos, T. P., Dryllis, G., Kotsianidis, Ι., Gougopoulou, T., et al. (2019) · Mediterranean Journal of Hematology and Infectious Diseases · doi:10.4084/mjhid.2019.009 · Cited by 11
Two activating mutations of MPL in triple‐negative myeloproliferative neoplasms
Xie, J., Chen, X., Gao, F., Hou, R., Tian, T., Zhang, Y., Fan, L., Hu, J., Zhu, G., Yang, W., et al. (2019) · Cancer Medicine · doi:10.1002/cam4.2387 · Cited by 11
Genetic lesions disrupting calreticulin 3′‐untranslated region in JAK2 mutation‐negative polycythemia vera
Quattrocchi, A., Maiorca, C., Billi, M., Tomassini, S., Marinis, E. D., Cenfra, N., Equitani, F., Gentile, M., Ceccherelli, A., Banella, C., et al. (2020) · American Journal of Hematology · doi:10.1002/ajh.25911 · Cited by 11
Self-citation
Rapid and Sensitive Detection of Calreticulin Type 1 and 2 Mutations by Real-Time Quantitative PCR
Zinke, M., Nageswaran, V., Reinhardt, R., & Burmeister, T. (2015) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-015-0162-3 · Cited by 11
Splenic irradiation provides transient palliation for symptomatic splenomegaly associated with primary myelofibrosis: a report on 14 patients
Kitanaka, A., Takenaka, K., Shide, K., Miyamoto, T., Kondo, T., Ozawa, K., Kurokawa, M., Akashi, K., & Shimoda, K. (2016) · International Journal of Hematology · doi:10.1007/s12185-016-1940-3 · Cited by 11
Development and Validation ofCALRMutation Testing for Clinical Diagnosis
Maier, C. L., Fisher, K. E., Jones, H. H., Hill, C. E., Mann, K. P., & Zhang, L. (2015) · American Journal of Clinical Pathology · doi:10.1309/ajcpxpa83mvctsoq · Cited by 11
Frequencies, Laboratory Features, and Granulocyte Activation in Chinese Patients with CALR-Mutated Myeloproliferative Neoplasms
Guo, H., Chen, X., Tian, R., Chang, J., Li, J., Tan, Y., Xu, Z., Ren, F., Zhao, J., Pan, J., et al. (2015) · PLoS ONE · doi:10.1371/journal.pone.0138250 · Cited by 11
Self-citation
Disease characteristics and outcomes in younger adults with primary and secondary myelofibrosis
Beauverd, Y., Alimam, S., McLornan, D. P., Radia, D. H., & Harrison, C. N. (2016) · British Journal of Haematology · doi:10.1111/bjh.14173 · Cited by 11
Self-citation
Validation of previous prognostic models for thrombosis and exploration of modified models in patients with essential thrombocythemia
Hashimoto, Y., Nakamae, H., Tanaka, T., Omura, H., Horiuchi, M., Yoshimura, T., Takakuwa, T., Mugitani, A., Hirose, A., Nakamae, M., et al. (2018) · European Journal Of Haematology · doi:10.1111/ejh.13136 · Cited by 11
Ruxolitinib in elderly patients with myelofibrosis: impact of age and genotype. A multicentre study on 291 elderly patients
Palandri, F., Catani, L., Bonifacio, M., Benevolo, G., Heidel, F. H., Palumbo, G. A., Crugnola, M., Abruzzese, E., Bartoletti, D., Polverelli, N., et al. (2018) · British Journal of Haematology · doi:10.1111/bjh.15497 · Cited by 11
Hyperuricemia might promote thrombosis in essential thrombocythemia and polycythemia vera
Krečak, I., Lucijanić, M., Gverić‐Krečak, V., & Duraković, N. (2020) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428194.2020.1731503 · Cited by 11
Application of Stem Cell Therapy in Myelofibrosis
Davidson, M. B., & Gupta, V. K. (2021) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2020.12.004 · Cited by 11
Disease modifying agents of myeloproliferative neoplasms: a review
Lee, S. (2021) · Blood Research · doi:10.5045/br.2021.2020325 · Cited by 11
New approaches to standard of care in early-phase myeloproliferative neoplasms: can interferon-α alter the natural history of the disease?
Pasquier, F., Pegliasco, J., Martin, J., Marti, S., & Plo, I. (2024) · Haematologica · doi:10.3324/haematol.2023.283958 · Cited by 10
Calreticulin—From the Endoplasmic Reticulum to the Plasma Membrane—Adventures of a Wandering Protein
Okura, G. C., Bharadwaj, A. G., & Waisman, D. M. (2025) · Cancers · doi:10.3390/cancers17020288 · Cited by 10
Advances in the Diagnosis and Treatment of Myeloproliferative Neoplasms (MPNs)
Ma, X., Zhou, Z., Gu, S., Guo, Y., Zhou, T., Shao, R., Yan, J., Chen, W., & Shi, X. (2025) · Cancers · doi:10.3390/cancers17193142 · Cited by 10
Ruxolitinib: Long-Term Management of Patients with Myelofibrosis and Future Directions in the Treatment of Myeloproliferative Neoplasms
Yacoub, A., Odenike, O. M., & Verstovšek, S. (2014) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-014-0229-y · Cited by 10
Histological evaluation of myeloproliferative neoplasms
Fujiwara, H. (2018) · Journal of the Japan Society of the Reticuloendothelial System · doi:10.3960/jslrt.18006 · Cited by 10
Analysis of saliva samples and cluster of differentiation 3 (CD3)+ lymphocytes as a source of germline DNA in myeloproliferative neoplasms
García-Gisbert, N., Camacho, L., Fernández‐Ibarrondo, L., Fernández‐Rodríguez, C., Longarón, R., Gibert, J., Angona, A., Andrade‐Campos, M., Salar, A., Besses, C., et al. (2020) · British Journal of Haematology · doi:10.1111/bjh.16624 · Cited by 10
Antithrombotic Management in Ischemic Stroke with Essential Thrombocythemia: Current Evidence and Dilemmas
Das, S., Deb, A., & Pal, T. (2021) · Medical Principles and Practice · doi:10.1159/000516471 · Cited by 10
Vascular Endothelial Dysfunction in Myeloproliferative Neoplasms and Gene Mutations
Aoyama, R., Kubota, Y., Tara, S., Wakita, S., Yamaguchi, H., Shimizu, W., & Takano, H. (2022) · International Heart Journal · doi:10.1536/ihj.22-003 · Cited by 10
Polyclonal evolution of Fanconi anemia to MDS and AML revealed at single cell resolution
Chang, L., Cui, Z., Shi, D., Chu, Y., Wang, B., Wan, Y., Ma, Q., Zhang, R., Li, H., Cheng, X., et al. (2022) · Experimental Hematology and Oncology · doi:10.1186/s40164-022-00319-5 · Cited by 12
Antibody targeting of mutant calreticulin in myeloproliferative neoplasms
Kramer, F., & Mullally, A. (2023) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.17896 · Cited by 10
BCR::ABL1-negative myeloproliferative neoplasms in the era of next-generation sequencing
Mroczkowska-Bękarciak, A., & Wróbel, T. (2023) · Frontiers in Genetics · doi:10.3389/fgene.2023.1241912 · Cited by 10
Trisomy 8 Defines a Distinct Subtype of Myeloproliferative Neoplasms Driven by the MYC–Alarmin Axis
Vincelette, N. D., Yu, X., Kuykendall, A. T., Moon, J., Su, S., Cheng, C., Sammut, R., Razabdouski, T. N., Nguyen, H. V., Eksioglu, E. A., et al. (2024) · Blood Cancer Discovery · doi:10.1158/2643-3230.bcd-23-0210 · Cited by 10
Molecular genetic evaluation of myeloproliferative neoplasms
Azzato, E. M., & Bagg, A. (2015) · International Journal of Laboratory Hematology · doi:10.1111/ijlh.12353 · Cited by 10
The JAK2 46/1 haplotype does not predispose to CALR-mutated myeloproliferative neoplasms
Soler, G., Bernal-Vicente, A., Antón, A. I., Diaz, J. M. T., Caparrós-Pérez, E., Sánchez-Serrano, I., Martínez-Pérez, Á., Sánchez-Vega, B., Vicente, V., & Ferrer‐Marín, F. (2014) · Annals of Hematology · doi:10.1007/s00277-014-2266-y · Cited by 10
JAK inhibitors and myelofibrosis, Einstein and ruxolitinib
Harrison, C. N. (2015) · Haematologica · doi:10.3324/haematol.2015.124099 · Cited by 10
Self-citation
Endogenous megakaryocytic colonies underline association between megakaryocytes and calreticulin mutations in essential thrombocythemia
Mondet, J., Park, J.-H., Ménard, A. L., Marzac, C., Carillo, S., Pourcelot, E., Girodon, F., Cabagnols, X., Lodé, L., Socoro-Yuste, N., et al. (2015) · Haematologica · doi:10.3324/haematol.2014.118927 · Cited by 10
Presence of polyclonal hematopoiesis in females with Ph-negative myeloproliferative neoplasms
Swierczek, S. I., Lima, L. T., Tashi, T., Kim, S. J., Gregg, X. T., & Prchal, J. T. (2015) · Leukemia · doi:10.1038/leu.2015.249 · Cited by 10
Myeloproliferative Neoplasms With Calreticulin Mutations Exhibit Distinctive Morphologic Features
Loghavi, S., Bueso-Ramos, C., Kanagal‐Shamanna, R., Ok, C. Y., Salim, A. A., Routbort, M. J., Mehrotra, M., Verstovšek, S., Medeiros, L. J., Luthra, R., et al. (2016) · American Journal of Clinical Pathology · doi:10.1093/ajcp/aqw005 · Cited by 10
Myelofibrosis: an update on drug therapy in 2016
Bose, P., & Verstovšek, S. (2016) · Expert Opinion on Pharmacotherapy · doi:10.1080/14656566.2016.1252333 · Cited by 11
Kinase signaling and targeted therapy for primary myelofibrosis
Yang, Q., Crispino, J. D., & Wen, Q. J. (2016) · Experimental Hematology · doi:10.1016/j.exphem.2016.12.007 · Cited by 10
A portable microfluidic platform for rapid molecular diagnostic testing of patients with myeloproliferative neoplasms
Wang, H., Zhang, X., Xu, X. L., Zhang, Q., Wang, H., Li, D., Kang, Z., Wu, Z., Tang, Y., An, Z., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-08674-8 · Cited by 10
Recurrent Subcutaneous Sweet's Disease in a Myelofibrosis Patient Treated with Ruxolitinib before Allogeneic Stem Cell Transplantation
Sakoda, T., Kanamitsu, Y., Mori, Y., Sasaki, K., Yonemitsu, E., Nagae, K., Yoshimoto, G., Kamezaki, K., Kato, K., Takenaka, K., et al. (2017) · Internal Medicine · doi:10.2169/internalmedicine.8491-16 · Cited by 10
N‐methyl‐d‐aspartate receptor mediated calcium influx supports in vitro differentiation of normal mouse megakaryocytes but proliferation of leukemic cell lines
Kamal, T., Green, T. N., Hearn, J. I., Josefsson, E. C., Morel‐Kopp, M., Wård, C., During, M. J., & Kalev‐Zylinska, M. L. (2017) · Research and Practice in Thrombosis and Haemostasis · doi:10.1002/rth2.12068 · Cited by 10
The Progress of Next Generation Sequencing in Assessment of Myeloid Malinancies
Puyan, F. Ö., & Alkan, S. (2018) · Balkan Medical Journal · doi:10.4274/balkanmedj.galenos.2018.2018.1195 · Cited by 10
Molecular/Cytogenetic Education for Hematopathology Fellows
Beck, R. C., Kim, A. S., Goswami, R. S., Weinberg, O. K., Yeung, C. C. S., & Ewalt, M. D. (2020) · American Journal of Clinical Pathology · doi:10.1093/ajcp/aqaa038 · Cited by 10
Hematoxylin binds to mutant calreticulin and disrupts its abnormal interaction with thrombopoietin receptor
Jia, R., Balligand, T., Atamanyuk, V., Nivarthi, H., Xu, E., Kutzner, L., Weinzierl, J., Nédélec, A., Kubicek, S., Lesyk, R., et al. (2020) · Blood · doi:10.1182/blood.2020006264 · Cited by 10
Patient-specific comorbidities as prognostic variables for survival in myelofibrosis
Sochacki, A. L., Bejan, C. A., Zhao, S., Patel, A., Kishtagari, A., Spaulding, T. P., Silver, A. J., Stockton, S. S., Pugh, K., Dorand, R. D., et al. (2022) · Blood Advances · doi:10.1182/bloodadvances.2021006318 · Cited by 10
Triple-Negative Myelofibrosis: Disease Features, Response to Treatment and Outcomes
Aguirre, L. E. E., Jain, A. G., Ball, S., Ali, N. E. A., Volpe, V. O., Tinsley, S., Sallman, D. A., Sweet, K. L., Lancet, J. E., Padron, E., et al. (2024) · Clinical Lymphoma Myeloma & Leukemia · doi:10.1016/j.clml.2024.03.001 · Cited by 10
Pacritinib: a new agent for the management of myelofibrosis?
Beauverd, Y., McLornan, D. P., & Harrison, C. N. (2015) · Expert Opinion on Pharmacotherapy · doi:10.1517/14656566.2015.1088831 · Cited by 10
Self-citation
X chromosome inactivation analysis reveals a difference in the biology of ET patients with JAK2 and CALR mutations
Allen, C. G., Lambert, J., Linch, D. C., & Gale, R. E. (2014) · Blood · doi:10.1182/blood-2014-06-580183 · Cited by 10
Treatment of Myelofibrosis
Cerquozzi, S., Farhadfar, N., & Tefferi, A. (2016) · The Cancer Journal · doi:10.1097/ppo.0000000000000169 · Cited by 10
JAK2, MPL, and CALR mutations in Chinese Han patients with essential thrombocythemia
Wang, J., Zhang, B., Chen, B., Zhou, R., Zhang, Q., Li, J., Yang, Y., Zhou, M., Shao, X., Xu, Y., et al. (2016) · Hematology · doi:10.1080/10245332.2016.1252003 · Cited by 10
Self-citation
Clinical and hematological relevance of JAK2 V617F and CALR mutations in BCR-ABL-negative ET patients
Limsuwanachot, N., Rerkamnuaychoke, B., Chuncharunee, S., Pauwilai, T., Singdong, R., Rujirachaivej, P., Chareonsirisuthigul, T., & Siriboonpiputtana, T. (2017) · Hematology · doi:10.1080/10245332.2017.1312736 · Cited by 10
Co-occurrence of type I CALR and two MPL mutations in patient with primary myelofibrosis
Tashkandi, H., Moore, E. M., Tomlinson, B. K., Goebel, T. E., & Sadri, N. (2017) · Annals of Hematology · doi:10.1007/s00277-017-3022-x · Cited by 10
Atypical Chronic Myeloid Leukemia, BCR/ABL1 Negative
Levinson, K. B., & Bagg, A. (2017) · Molecular pathology library · doi:10.1007/978-3-319-62146-3_11 · Cited by 10
Molecular genetics of BCR-ABL1 negative myeloproliferative neoplasms in India
Rabade, N., Subramanian, P., Kodgule, R., Raval, G., Joshi, S., Chaudhary, S., Mascarenhas, R., Tembhare, P. R., Gujral, S., & Patkar, N. V. (2018) · Indian Journal of Pathology and Microbiology · doi:10.4103/ijpm.ijpm_223_17 · Cited by 10
Mutant NRAS Q61K is responsible for MAPK pathway activation in the MARIMO cell line and renders these cells independent of the CALR–MPL–JAK2–STAT5 pathway
Han, L., Czech, J., Maurer, A., Brümmendorf, T. H., Chatain, N., & Koschmieder, S. (2018) · Leukemia · doi:10.1038/s41375-018-0234-6 · Cited by 10
WT1 gene is overexpressed in myeloproliferative neoplasms, especially in myelofibrosis
Cottin, L., Riou, J., Boyer, F., Bouvier, A., Zannetti, A., Blouet, A., Truchan-Graczyk, M., Jouanneau‐Courville, R., Beucher, A., Ribourtout, B., et al. (2018) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2018.12.004 · Cited by 10
Methylation age as a correlate for allele burden, disease status, and clinical response in myeloproliferative neoplasm patients treated with vorinostat
McPherson, S., Greenfield, G., Andersen, C. L., Grinfeld, J., Hasselbalch, H. C., Nangalia, J., Mills, K., & McMullin, M. F. (2019) · Experimental Hematology · doi:10.1016/j.exphem.2019.09.025 · Cited by 10
Self-citation
Lessons from mouse models of MPN
Benlabiod, C., Dagher, T., Marty, C., & Villeval, J. (2021) · International review of cytology · doi:10.1016/bs.ircmb.2021.02.009 · Cited by 13
B cells facilitate platelet production mediated by cytokines in patients with essential thrombocythaemia
Liu, C., Wang, S.-C., Kao, C.-W., Hsieh, R.-K., Chang, M., Chang, Y., Lim, K., & Chen, C. G. (2014) · Thrombosis and Haemostasis · doi:10.1160/th13-11-0949 · Cited by 11
MPN10 score and survival of molecularly annotated myeloproliferative neoplasm patients
Elnahass, Y., Mahmoud, H. K., Mattar, M., Fahmy, O. A., Samra, M., Abdelfattah, R. M., Elrefaey, F. A., Fahmy, H., Fathy, G., Abdulgawad, A., et al. (2017) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428194.2017.1365852 · Cited by 10
Widespread Immunogenic Poly-Epitope Frameshift Mutations in Microsatellite Unstable TumorsPreprint
Roudko, V., Bozkus, C. C., Orfanelli, T., Blank, S. V., Greenbaum, B. D., & Bhardwaj, N. (2019) · SSRN Electronic Journal · doi:10.2139/ssrn.3411246 · Cited by 10
Cytokine Landscapes, Immune Dysregulation, and Treatment Perspectives in Philadelphia-Negative Myeloproliferative Neoplasms: A Narrative Review
Todor, S. B., & Mihăilă, R. G. (2025) · Journal of Clinical Medicine · doi:10.3390/jcm14176328 · Cited by 9
Mutant calreticulin enables potent and selective CAR-T cell therapy in preclinical models of myeloproliferative neoplasms
Pesini, C., Gil-Bellido, M., Millán, L., Oñate, C., Calvo-Pérez, A., Santiago, L., Iglesias, E., Bernal, J. P., Araujo‐Voces, M., Artigas, L. P., et al. (2026) · Journal for ImmunoTherapy of Cancer · doi:10.1136/jitc-2025-012706 · Cited by 10
Clinical Validation of a Multipurpose Assay for Detection and Genotyping ofCALRMutations in Myeloproliferative Neoplasms
Mehrotra, M., Luthra, R., Singh, R. R., Barkoh, B. A., Galbincea, J. M., Mehta, P., Goswami, R. S., Jabbar, K. J., Loghavi, S., Medeiros, L. J., et al. (2015) · American Journal of Clinical Pathology · doi:10.1309/ajcp5la2lddnqnnc · Cited by 9
Circulating YKL-40 in Philadelphia-negative myeloproliferative neoplasms
Krečak, I., Gverić‐Krečak, V., Lapić, I., Rončević, P., Gulin, J., Fumić, K., Krečak, F., Holik, H., & Duraković, N. (2019) · Acta Clinica Belgica · doi:10.1080/17843286.2019.1659467 · Cited by 9
The clinical role of interferon alpha in Philadelphia-negative myeloproliferative neoplasms
Yoon, S. Y., & Won, J.-H. (2021) · Blood Research · doi:10.5045/br.2021.2020334 · Cited by 9
Epitope Mapping of Monoclonal Antibodies to Calreticulin Reveals That Charged Amino Acids Are Essential for Antibody Binding
Bergmann, A. C., Kyllesbech, C., Slibinskas, R., Čiplys, E., Højrup, P., Trier, N. H., & Houen, G. (2021) · Antibodies · doi:10.3390/antib10030031 · Cited by 9
Circulating platelet count and glycans
Rivadeneyra, L., Falet, H., & Hoffmeister, K. M. (2021) · Current Opinion in Hematology · doi:10.1097/moh.0000000000000682 · Cited by 9
Clinical characteristics of Japanese patients with polycythemia vera: results of the JSH-MPN-R18 study
Edahiro, Y., Ito, T., Gotoh, A., Nakamae, M., Kimura, F., Koike, M., Kirito, K., Wada, H., Usuki, K., Tanaka, T., et al. (2022) · International Journal of Hematology · doi:10.1007/s12185-022-03412-x · Cited by 9
Deregulated calcium signaling in blood cancer: Underlying mechanisms and therapeutic potential
Immanuel, T., Li, J., Green, T. N., Bogdanova, A. Y., & Kalev‐Zylinska, M. L. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.1010506 · Cited by 9
Self-citation
Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms
Kim, H., Han, Y., Jang, J. H., Jang, J. H., Kim, S.-H., & Kim, S. (2022) · Diagnostics · doi:10.3390/diagnostics12112570 · Cited by 9
Structural and Dynamic Differences between Calreticulin Mutants Associated with Essential Thrombocythemia
Radjasandirane, R., & de Brevern, A. G. (2023) · Biomolecules · doi:10.3390/biom13030509 · Cited by 9
Cellular aging is accelerated in the malignant clone of myeloproliferative neoplasms
Vieri, M., Tharmapalan, V., Kalmer, M., Baumeister, J., Nikolić, M., Schnitker, M., Kirschner, M., Flosdorf, N., Toledo, M. A. S., Zenke, M., et al. (2023) · Blood Cancer Journal · doi:10.1038/s41408-023-00936-1 · Cited by 9
Tamoxifen for the treatment of myeloproliferative neoplasms: A Phase II clinical trial and exploratory analysis
Fang, Z., Fattori, G. C., McKerrell, T., Boucher, R. H., Jackson, A. E., Fletcher, R. S., Forte, D., Martín, J., Fox, S., Roberts, J., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-43175-5 · Cited by 9
Self-citation
Diagnosis, complications and management of chronic neutrophilic leukaemia: A case report
SILVA, P. R., Ferreira, C. M. P., Bizarro, S., Cerveira, N., Torres, L., Moreira, I. M., & Mariz, J. (2015) · Oncology Letters · doi:10.3892/ol.2015.3148 · Cited by 9
Evolution of normal and neoplastic tissue stem cells: progress after Robert Hooke
Weissman, I. L. (2015) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2014.0364 · Cited by 9
Evolving Therapeutic Strategies for the Classic Philadelphia-Negative Myeloproliferative Neoplasms
Kaplan, J. B., Stein, B. L., McMahon, B. J., Giles, F. J., & Platanias, L. C. (2016) · EBioMedicine · doi:10.1016/j.ebiom.2016.01.010 · Cited by 9
Therapeutic approaches in myelofibrosis and myelodysplastic/myeloproliferative overlap syndromes
Savona, M. R., Sochacki, A. L., & Fischer, M. A. (2016) · OncoTargets and Therapy · doi:10.2147/ott.s83868 · Cited by 9
Frequency of Calreticulin (CALR) Mutation and Its Clinical Prognostic Significance in Essential Thrombocythemia and Primary Myelofibrosis: A Meta-analysis
Kong, H., Liu, Y., Luo, S., Li, Q., & Wang, Q. (2016) · Internal Medicine · doi:10.2169/internalmedicine.55.6214 · Cited by 9
Clinical and Hematological Relevance of JAK2V617F, CALR, and MPL Mutations in Vietnamese Patients with Essential Thrombocythemia
Vũ, H. A., Thảo, T. T. P., Dong, C. V., Vuong, N. L., Chuong, H. Q., Van, P. N. T., Nghia, H., Binh, N. T., Dung, P. C., & Xinh, P. T. (2019) · Asian Pacific Journal of Cancer Prevention · doi:10.31557/apjcp.2019.20.9.2775 · Cited by 9
Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U): More than just a “catch-all” term?
Shallis, R. M., & Zeidan, A. M. (2019) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2019.101132 · Cited by 10
In and out: Traffic and dynamics of thrombopoietin receptor
Roy, A., Shrivastva, S., & Naseer, S. (2021) · Journal of Cellular and Molecular Medicine · doi:10.1111/jcmm.16878 · Cited by 9
Impact of JAK2(V617F) mutation status on treatment response to anagrelide in essential thrombocythemia: an observational, hypothesis-generating study
Vannucchi, A. M., Cascavilla, N., Stefano, V. D., Pancrazzi, A., Iurlo, A., Gobbi, M., Palandri, F., Specchia, G., Liberati, A. M., D’Adda, M., et al. (2015) · Drug Design Development and Therapy · doi:10.2147/dddt.s79576 · Cited by 9
Self-citation
Trombocitemia esencial: características iniciales y factores de riesgo de supervivencia y trombosis en una serie de 214 pacientes
Angona, A., Álvarez‐Larrán, A., Bellosillo, B., Martinez-Aviles, L. M., García‐Pallarols, F., Longarón, R., Ancochea, Á., & Besses, C. (2014) · Medicina Clínica · doi:10.1016/j.medcli.2014.04.029 · Cited by 9
Prognostication in MF: From CBC to cytogenetics to molecular markers
Zhou, A. W., & Oh, S. T. (2014) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2014.07.008 · Cited by 9
A TET2 rs3733609 C/T genotype is associated with predisposition to the myeloproliferative neoplasms harboring JAK2V617F and confers a proliferative potential on erythroid lineages
Shen, X., Sun, N.-N., Yin, Y., Liu, S., Liu, X., Peng, H., Dai, C.-W., Xu, Y., Deng, M., Luo, Y., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.7072 · Cited by 9
Anagrelide and Mutational Status in Essential Thrombocythemia
Iurlo, A., Cattaneo, D., Orofino, N., Bucelli, C., Fabris, S., & Cortelezzi, A. (2016) · BioDrugs · doi:10.1007/s40259-016-0170-9 · Cited by 9
A novel assay to detect calreticulin mutations in myeloproliferative neoplasms
Rosso, V., Petiti, J., Bracco, E., Pedrola, R., Carnuccio, F., Signorino, E., Carturan, S., Calabrese, C., Bot‐Sartor, G., Ronconi, M., et al. (2016) · Oncotarget · doi:10.18632/oncotarget.14113 · Cited by 9
Essential thrombocythemia: Baseline characteristics and risk factors for survival and thrombosis in a series of 214 patients
Angona, A., Álvarez‐Larrán, A., Bellosillo, B., Martinez-Aviles, L. M., García‐Pallarols, F., Longarón, R., Ancochea, Á., & Besses, C. (2015) · Medicina Clínica (English Edition) · doi:10.1016/j.medcle.2015.10.002 · Cited by 9
Quantitative Proteome Heterogeneity in Myeloproliferative Neoplasm Subtypes and Association with JAK2 Mutation Status
Socoro-Yuste, N., Čokić, V. P., Mondet, J., Plo, I., & Mossuz, P. (2017) · Molecular Cancer Research · doi:10.1158/1541-7786.mcr-16-0495 · Cited by 9
Mutation profiling by targeted sequencing of “triple‐negative” essential thrombocythaemia patients
Ju, M., Fu, R., Li, H., Liu, X. F., Xue, F., Chen, Y., Liu, W., Huang, Y., Zhang, L., Yang, R., et al. (2017) · British Journal of Haematology · doi:10.1111/bjh.14723 · Cited by 9
Identification of prognostic risk factors of acute lymphoblastic leukemia based on mRNA expression profiling
Li, C., Kuang, L., Zhu, B., Chen, J., Wang, X., & Huang, X. (2017) · Neoplasma · doi:10.4149/neo_2017_402 · Cited by 9

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