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 601–700 of 1,002

HLA-dependent heterogeneity and macrophage immunoproteasome activation during lung COVID-19 disease
Desterke, C., Turhan, A. G., Griscelli, A. B., & Griscelli, F. (2021) · Journal of Translational Medicine · doi:10.1186/s12967-021-02965-5 · Cited by 22
Protein kinase Cɛ inhibition restores megakaryocytic differentiation of hematopoietic progenitors from primary myelofibrosis patients
Masselli, E., Carubbi, C., Gobbi, G., Mirandola, P., Galli, D., Martini, S., Bonomini, S., Crugnola, M., Craviotto, L., Aversa, F., et al. (2015) · Leukemia · doi:10.1038/leu.2015.150 · Cited by 23
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis
Stockklausner, C., Klotter, A.-C., Dickemann, N., Kuhlee, I. N., Duffert, C. M., Kerber, C., Gehring, N. H., & Kulozik, A. E. (2014) · Blood · doi:10.1182/blood-2014-07-587170 · Cited by 22
Acute Myeloid Leukemia and Other Types of Disease Progression in Myeloproliferative Neoplasms
Czader, M., & Orazi, A. (2015) · American Journal of Clinical Pathology · doi:10.1309/ajcpzqk40jozzzcc · Cited by 23
Molecular genetics of chronic neutrophilic leukemia, chronic myelomonocytic leukemia and atypical chronic myeloid leukemia
Li, B., Gale, R. P., & Xiao, Z. (2014) · Journal of Hematology & Oncology · doi:10.1186/s13045-014-0093-1 · Cited by 22
Oncogenic Drivers in Myeloproliferative Neoplasms: From JAK2 to Calreticulin Mutations
Cahu, X., & Constantinescu, S. N. (2015) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-015-0278-x · Cited by 22
Contemporary approach to essential thrombocythemia and polycythemia vera
Aruch, D. B., & Mascarenhas, J. O. (2015) · Current Opinion in Hematology · doi:10.1097/moh.0000000000000216 · Cited by 22
α-Integrin expression and function modulates presentation of cell surface calreticulin
Liu, C.-C., Leclair, P., Monajemi, M., Sly, L. M., Reid, G. S. D., & Lim, C. J. (2016) · Cell Death and Disease · doi:10.1038/cddis.2016.176 · Cited by 22
Essential thrombocythemia: a review of the clinical features, diagnostic challenges, and treatment modalities in the era of molecular discovery
Chuzi, S. E., & Stein, B. L. (2017) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428194.2017.1312371 · Cited by 22
Emerging therapeutic targets in myeloproliferative neoplasms and peripheral T-cell leukemia and lymphomas
Orlova, A., Wingelhofer, B., Neubauer, H. A., Maurer, B., Berger‐Becvar, A., Keserű, G. M., Gunning, P. T., Valent, P., & Moriggl, R. (2017) · Expert Opinion on Therapeutic Targets · doi:10.1080/14728222.2018.1406924 · Cited by 22
SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome
Linder, K. J., Iragavarapu, C., & Liu, D. (2017) · Biomarker Research · doi:10.1186/s40364-017-0113-8 · Cited by 22
Thrombosis in Philadelphia negative classical myeloproliferative neoplasms: a narrative review on epidemiology, risk assessment, and pathophysiologic mechanisms
Ball, S., Thein, K. Z., Maiti, A., & NUGENT, K. M. (2018) · Journal of Thrombosis and Thrombolysis · doi:10.1007/s11239-018-1623-4 · Cited by 25
Clinical Exome Sequencing unravels new disease-causing mutations in the myeloproliferative neoplasms: A pilot study in patients from the state of Qatar
Al-Dewik, N. I. E., Tawfeg, B.-O., Zayed, H., Trujillano, D., Kishore, S., Rolfs, A., & Yassin, M. A. (2018) · Gene · doi:10.1016/j.gene.2018.12.009 · Cited by 22
Early post-transplantation factors predict survival outcomes in patients undergoing allogeneic hematopoietic cell transplantation for myelofibrosis
Jain, T., Kunze, K. L., Mountjoy, L. J., Partain, D. K., Kosiorek, H., Khera, N., Hogan, W. J., Roy, V., Slack, J. L., Noël, P., et al. (2020) · Blood Cancer Journal · doi:10.1038/s41408-020-0302-9 · Cited by 22
Different impact of calreticulin mutations on human hematopoiesis in myeloproliferative neoplasms
El-Khoury, M., Cabagnols, X., Mosca, M., Vertenoeil, G., Marzac, C., Favale, F., Bluteau, O., Lorre, F., Tisserand, A., Moraes, G. R., et al. (2020) · Oncogene · doi:10.1038/s41388-020-1368-3 · Cited by 25
Rapid Molecular Profiling of Myeloproliferative Neoplasms Using Targeted Exon Resequencing of 86 Genes Involved in JAK-STAT Signaling and Epigenetic Regulation
Magor, G. W., Tallack, M. R., Klose, N., Taylor, D. L., Korbie, D. J., Mollee, P. N., Trau, M., & Perkins, A. C. (2016) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2016.05.006 · Cited by 22
CALRandASXL1mutation analysis in 190 patients with essential thrombocythemia
Shen, H., Chao, H., Ding, Z., Feng, Y., Cen, J., Pan, J., He, J. L., Zhou, M., Chen, Z., & Chen, S. (2014) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.3109/10428194.2014.939963 · Cited by 21
Molecular analyses in the diagnosis of myeloproliferative neoplasm-related splanchnic vein thrombosis
Iurlo, A., Cattaneo, D., Gianelli, U., Fermo, E., Augello, C., & Cortelezzi, A. (2014) · Annals of Hematology · doi:10.1007/s00277-014-2249-z · Cited by 21
Novel myelofibrosis treatment strategies: potential partners for combination therapies
Stein, B. L., Swords, R. T., Hochhaus, A., & Giles, F. J. (2014) · Leukemia · doi:10.1038/leu.2014.176 · Cited by 21
Janus Kinase Inhibitors and Allogeneic Stem Cell Transplantation for Myelofibrosis
Gupta, V. K., Gotlib, J. R., Radich, J. P., Kröger, N. M., Rondelli, D., Verstovšek, S., & Deeg, H. J. (2014) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2014.03.017 · Cited by 22
The evolution and clinical relevance of prognostic classification systems in myelofibrosis
Bose, P., & Verstovšek, S. (2015) · Cancer · doi:10.1002/cncr.29842 · Cited by 21
Genomic heterogeneity in myeloproliferative neoplasms and applications to clinical practice
Lee, J., Godfrey, A. L., & Nangalia, J. (2020) · Blood Reviews · doi:10.1016/j.blre.2020.100708 · Cited by 21
Self-citation
Hematopoietic expression of a chimeric murine‐human CALR oncoprotein allows the assessment of anti‐CALR antibody immunotherapies in vivo
Achyutuni, S., Nivarthi, H., Majoros, A., Hug, E., Schueller, C. M., Jia, R., Varga, C., Schuster, M. K., Senekowitsch, M., Tsiantoulas, D., et al. (2021) · American Journal of Hematology · doi:10.1002/ajh.26171 · Cited by 21
CDK6 Is a Therapeutic Target in Myelofibrosis
Dutta, A., Nath, D., Yang, Y., Le, B. T., & Mohi, G. (2021) · Cancer Research · doi:10.1158/0008-5472.can-21-0590 · Cited by 24
CRISPR/Cas12a-Based Ultrasensitive and Rapid Detection of JAK2 V617F Somatic Mutation in Myeloproliferative Neoplasms
Chen, M., Zhang, C., Hu, Z., Li, Z., Li, M., Wu, L., Zhou, M., & Liang, D. (2021) · Biosensors · doi:10.3390/bios11080247 · Cited by 21
Early and late stage MPN patients show distinct gene expression profiles in CD34+ cells
Baumeister, J., Maié, T., Chatain, N., Gan, L., Weinbergerová, B., Toledo, M. A. S., Eschweiler, J., Maurer, A., Mayer, J., Kubešová, B., et al. (2021) · Annals of Hematology · doi:10.1007/s00277-021-04615-8 · Cited by 21
A Chaperone-Like Role for EBI3 in Collaboration With Calnexin Under Inflammatory Conditions
Watanabe, A., Mizoguchi, I., Hasegawa, H., Katahira, Y., Inoué, S., Sakamoto, E., Furusaka, Y., Sekine, A., Miyakawa, S., Murakami, F., et al. (2021) · Frontiers in Immunology · doi:10.3389/fimmu.2021.757669 · Cited by 21
Mutational landscape of blast phase myeloproliferative neoplasms (MPN-BP) and antecedent MPN
Paşca, S., Chifotides, H. T., Verstovšek, S., & Bose, P. (2022) · International review of cytology · doi:10.1016/bs.ircmb.2021.02.008 · Cited by 22
Causes of Thrombocytosis: A Single-center Retrospective Study of 1,202 Patients
Edahiro, Y., Kurokawa, Y., Morishita, S., Yamamoto, T. S., Araki, M., & Komatsu, N. (2022) · Internal Medicine · doi:10.2169/internalmedicine.9282-21 · Cited by 21
Phenotypic correlations of CALR mutation variant allele frequency in patients with myelofibrosis
Guglielmelli, P., Maccari, C., Sordi, B., Balliu, M., Atanasio, A., Mannarelli, C., Capecchi, G., Sestini, I., Coltro, G., Loscocco, G. G., et al. (2023) · Blood Cancer Journal · doi:10.1038/s41408-023-00786-x · Cited by 21
Self-citation
Human gene-engineered calreticulin mutant stem cells recapitulate MPN hallmarks and identify targetable vulnerabilities
Foßelteder, J., Pabst, G., Sconocchia, T., Schlacher, A., Auinger, L., Kashofer, K., Beham‐Schmid, C., Trajanoski, S., Waskow, C., Schöll, W., et al. (2023) · Leukemia · doi:10.1038/s41375-023-01848-6 · Cited by 21
Prognostic significance of ASXL1, JAK2V617F mutations and JAK2V617F allele burden in Philadelphia-negative myeloproliferative neoplasms
Hindilerden, İ. Y., Aday, A. D., Akadam-Teker, B., Yılmaz, C., Nalçacı, M., Yavuz, A. S., & Sargın, D. (2015) · Journal of Blood Medicine · doi:10.2147/jbm.s78826 · Cited by 21
Critical appraisal of the role of ruxolitinib in myeloproliferative neoplasm-associated myelofibrosis
Barosi, G., Rosti, V., & Gale, R. P. (2015) · OncoTargets and Therapy · doi:10.2147/ott.s31916 · Cited by 21
Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2V617F or MPL mutations
Li, N., Yao, Q.-M., Gale, R. P., Li, J., Li, L.-D., Zhao, X.-S., Jiang, H., Jiang, Q., Jiang, B., Shi, H., et al. (2015) · Leukemia Research · doi:10.1016/j.leukres.2015.02.006 · Cited by 21
Self-citation
Small RNA Sequencing Uncovers New miRNAs and moRNAs Differentially Expressed in Normal and Primary Myelofibrosis CD34+ Cells
Guglielmelli, P., Bisognin, A., Saccoman, C., Mannarelli, C., Coppe, A., Vannucchi, A. M., & Bortoluzzi, S. (2015) · PLoS ONE · doi:10.1371/journal.pone.0140445 · Cited by 21
Self-citation
Coexisting JAK2V617F and CALR Exon 9 Mutations in Myeloproliferative Neoplasms - Do They Designate a New Subtype?
Ahmed, R. Z., Rashid, M., Ahmed, N., Nadeem, M. A., & Shamsi, T. S. (2016) · Asian Pacific Journal of Cancer Prevention · doi:10.7314/apjcp.2016.17.3.923 · Cited by 21
Droplet digital PCR assay for quantifying of CALR mutant allelic burden in myeloproliferative neoplasms
Anelli, L., Zagaria, A., Coccaro, N., Tota, G., Minervini, A., Casieri, P., Impera, L., Minervini, C. F., Brunetti, C., Ricco, A., et al. (2016) · Annals of Hematology · doi:10.1007/s00277-016-2739-2 · Cited by 21
Biology of Myeloproliferative Malignancies
Melikyan, A. L., & Subortseva, I. N. (2016) · Clinical oncohematology · doi:10.21320/2500-2139-2016-9-3-314-325 · Cited by 22
Clinicopathological differences exist between CALR- and JAK2-mutated myeloproliferative neoplasms despite a similar molecular landscape: data from targeted next-generation sequencing in the diagnostic laboratory
Agarwal, R., Blombery, P. A., McBean, M., Jones, K. L., FELLOWES, A. P., Doig, K., Forsyth, C. J., & Westerman, D. (2017) · Annals of Hematology · doi:10.1007/s00277-017-2937-6 · Cited by 21
How Does the L884P Mutation Confer Resistance to Type-II Inhibitors of JAK2 Kinase: A Comprehensive Molecular Modeling Study
Kong, X., Sun, H., Pan, P., Li, D., Zhu, F., Chang, S., Xu, L., Li, Y., & Hou, T. (2017) · Scientific Reports · doi:10.1038/s41598-017-09586-3 · Cited by 21
Skewed megakaryopoiesis in human induced pluripotent stem cell‐derived haematopoietic progenitor cells harbouring calreticulin mutations
Takei, H., Edahiro, Y., Mano, S., Masubuchi, N., Mizukami, Y., Imai, M., Morishita, S., Misawa, K., Ochiai, T., Tsuneda, S., et al. (2018) · British Journal of Haematology · doi:10.1111/bjh.15266 · Cited by 21
Ruxolitinib for the Treatment of Essential Thrombocythemia
Gunawan, A. S., Harrington, P., Garcia-Curto, N., McLornan, D. P., Radia, D. H., & Harrison, C. N. (2018) · HemaSphere · doi:10.1097/hs9.0000000000000056 · Cited by 24
Self-citation
Cancer immune therapy for myeloid malignancies: present and future
Holmström, M. O., & Hasselbalch, H. C. (2018) · Seminars in Immunopathology · doi:10.1007/s00281-018-0693-x · Cited by 23
CALR mutations in a cohort of JAK2 V617F negative patients with suspected myeloproliferative neoplasms
Mikič, T. B., Pajič, T., & Sever, M. (2019) · Scientific Reports · doi:10.1038/s41598-019-56236-x · Cited by 21
Splicing Anomalies in Myeloproliferative Neoplasms: Paving the Way for New Therapeutic Venues
Hautin, M., Mornet, C., Chauveau, A., Bernard, D. G., Corcos, L., & Lippert, É. (2020) · Cancers · doi:10.3390/cancers12082216 · Cited by 23
Classical Philadelphia-negative myeloproliferative neoplasms (MPNs): A continuum of different disease entities
Coltro, G., Loscocco, G. G., & Vannucchi, A. M. (2021) · International review of cytology · doi:10.1016/bs.ircmb.2021.09.001 · Cited by 25
Self-citation
Whole-genome CRISPR screening identifies N- glycosylation as a genetic and therapeutic vulnerability in CALR -mutant MPNs
Jutzi, J. S., Marneth, A. E., Ciboddo, M., Guerra-Moreno, Á., Jiménez‐Santos, M. J., Kosmidou, A., Dressman, J. W., Liang, H., Hamel, R., Lozano, P., et al. (2022) · Blood · doi:10.1182/blood.2022015629 · Cited by 22
miR-494-3p overexpression promotes megakaryocytopoiesis in primary myelofibrosis hematopoietic stem/progenitor cells by targeting SOCS6
Rontauroli, S., Norfo, R., Pennucci, V., Zini, R., Ruberti, S., Bianchi, E., Salati, S., Prudente, Z., Rossi, C., Rosti, V., et al. (2017) · Oncotarget · doi:10.18632/oncotarget.15226 · Cited by 21
Self-citation
Biology of Erythropoiesis, Erythroid Differentiation, and Maturation
Papayannopoulou, T., & Migliaccio, A. R. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-35762-3.00026-3 · Cited by 21
Targeted Therapies in Myelofibrosis: Present Landscape, Ongoing Studies, and Future Perspectives
Loscocco, G. G., & Guglielmelli, P. (2025) · American Journal of Hematology · doi:10.1002/ajh.27658 · Cited by 23
Self-citation
Actuación ante la trombosis portal no cirrótica no tumoral
Llop, E., & Seijó, S. (2015) · Gastroenterología y Hepatología · doi:10.1016/j.gastrohep.2015.09.007 · Cited by 20
The Contemporary Approach to CALR-Positive Myeloproliferative Neoplasms
Mikič, T. B., Pajič, T., Zver, S., & Sever, M. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22073371 · Cited by 20
Clinical impact of glycans in platelet and megakaryocyte biology
Falet, H., Rivadeneyra, L., & Hoffmeister, K. M. (2022) · Blood · doi:10.1182/blood.2020009303 · Cited by 20
Single-cell methods in myeloproliferative neoplasms: old questions, new technologies
O’Sullivan, J., Mead, A. J., & Psaila, B. (2022) · Blood · doi:10.1182/blood.2021014668 · Cited by 24
Interferon alpha‐2 treatment reduces circulating neutrophil extracellular trap levels in myeloproliferative neoplasms
Massarenti, L., Knudsen, T. A., Enevold, C., Skov, V., Kjær, L., Larsen, M. K., Larsen, T. S., Hansen, D. L., Hasselbalch, H. C., & Nielsen, C. H. (2023) · British Journal of Haematology · doi:10.1111/bjh.18845 · Cited by 20
Frequency and Molecular Characteristics of Calreticulin Gene (CALR) Mutations in Patients with JAK2-Negative Myeloproliferative Neoplasms
Wojtaszewska, M. L., Iwoła, M., & Lewandowski, K. C. (2014) · Acta Haematologica · doi:10.1159/000366263 · Cited by 20
Distinct molecular abnormalities underlie unique clinical features of essential thrombocythemia in children
Fu, R., Liu, D., Cao, Z., Zhu, S., Li, H., Su, H. L., Zhang, L., Xue, F., Liu, X., Zhang, X., et al. (2015) · Leukemia · doi:10.1038/leu.2015.167 · Cited by 20
Discrepancies between bone marrow histopathology and clinical phenotype in BCR-ABL1-negative myeloproliferative neoplasms associated with splanchnic vein thrombosis
Gianelli, U., Iurlo, A., Cattaneo, D., Bossi, A., Cortinovis, I., Augello, C., Moro, A., Savi, F., Castelli, R., Brambilla, C., et al. (2015) · Leukemia Research · doi:10.1016/j.leukres.2015.03.009 · Cited by 20
Clonal heterogeneity as a driver of disease variability in the evolution of myeloproliferative neoplasms
Prick, J. C. M., de Haan, G., Green, A. R., & Kent, D. G. (2014) · Experimental Hematology · doi:10.1016/j.exphem.2014.07.268 · Cited by 21
Self-citation
Inhibition of glutamate regulated calcium entry into leukemic megakaryoblasts reduces cell proliferation and supports differentiation
Kamal, T., Green, T. N., Morel‐Kopp, M., Wård, C., McGregor, A. L., McGlashan, S. R., Bohlander, S. K., Browett, P., Teague, L. R., During, M. J., et al. (2015) · Cellular Signalling · doi:10.1016/j.cellsig.2015.05.004 · Cited by 21
Splicing factor mutations in MDS RARS and MDS/MPN-RS-T
Yoshimi, A., & Abdel-Wahab, O. I. (2017) · International Journal of Hematology · doi:10.1007/s12185-017-2242-0 · Cited by 20
Epigenetic changes in myelofibrosis: Distinct methylation changes in the myeloid compartments and in cases with ASXL1 mutations
Nielsen, H. M., Andersen, C. L., Westman, M. K., Kristensen, L. S., Asmar, F., Kruse, T. A., Thomassen, M., Larsen, T. S., Skov, V., Hansen, L. L., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-07057-3 · Cited by 20
Splanchnic venous thrombosis in JAK2 V617F mutation positive myeloproliferative neoplasms – long term follow-up of a regional case series
Greenfield, G., & McMullin, M. F. (2018) · Thrombosis Journal · doi:10.1186/s12959-018-0187-z · Cited by 22
Concomitant and noncanonical JAK2 and MPL mutations in JAK2V617F‐ and MPLW515 L‐positive myelofibrosis
Schulze, S., Stengel, R., Jaekel, N., Wang, S., Franke, G., Roskos, M., Schneider, M., Niederwieser, D. W., & Al‐Ali, H. K. (2019) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22781 · Cited by 20
Pathogenic Effects of Impaired Retrieval between the Endoplasmic Reticulum and Golgi Complex
Kokubun, H., Jin, H., & Aoe, T. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20225614 · Cited by 20
Mechanism underlying the development of myeloproliferative neoplasms through mutant calreticulin
Edahiro, Y., Araki, M., & Komatsu, N. (2020) · Cancer Science · doi:10.1111/cas.14503 · Cited by 20
Neutrophil Death in Myeloproliferative Neoplasms: Shedding More Light on Neutrophils as a Pathogenic Link to Chronic Inflammation
Marković, D. C., Maslovarić, I. S., Djikić, D., & Čokić, V. P. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031490 · Cited by 20
Production and Characterization of Peptide Antibodies to the C-Terminal of Frameshifted Calreticulin Associated with Myeloproliferative Diseases
Mughal, F. P., Bergmann, A. C., Huynh, H. U. B., Jørgensen, S. H., Mansha, I., Kesmez, M., Schürch, P. M., Theocharides, A. P. A., Hansen, P. B., Friis, T., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23126803 · Cited by 20
CALR mutations screening in wild type JAK2V617F and MPLW515K/L Brazilian myeloproliferative neoplasm patients
Nunes, D. P. T., de Lima, L. T., Chauffaille, M. D. L., Mitne‐Neto, M., dos Santos, M. T., Cliquet, M. G., & Guerra‐Shinohara, E. M. (2015) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2015.07.005 · Cited by 20
Clinical features of Japanese polycythemia vera and essential thrombocythemia patients harboring CALR, JAK2V617F, JAK2Ex12del, and MPLW515L/K mutations
Okabe, M., Yamaguchi, H., Usuki, K., Kobayashi, Y., Kawata, E., Kuroda, J., Kimura, S. H., Tajika, K., Gomi, S., Arima, N., et al. (2015) · Leukemia Research · doi:10.1016/j.leukres.2015.11.002 · Cited by 20
Biomarkers in Hematological Malignancies: A Review of Molecular Testing in Hematopathology
Hussaini, M. (2015) · Cancer Control · doi:10.1177/107327481502200206 · Cited by 20
Bone marrow morphology and disease progression in congenital thrombocytopenia: a detailed clinicopathologic and genetic study of eight cases
Tsang, H. C., Bussel, J. B., Mathew, S., Liu, Y., Imahiyerobo, A., Orazi, A., & Geyer, J. T. (2017) · Modern Pathology · doi:10.1038/modpathol.2016.218 · Cited by 20
Somatic mutations of calreticulin in myeloproliferative neoplasms and myelodysplastic/myeloproliferative neoplasms
Malcovati, L., Rumi, E., & Cazzola, M. (2014) · Haematologica · doi:10.3324/haematol.2014.113944 · Cited by 20
Therapeutic cancer vaccination against mutant calreticulin in myeloproliferative neoplasms induces expansion of specific T cells in the periphery but specific T cells fail to enrich in the bone marrow
Holmström, M. O., Andersen, M., Traynor, S., Ahmad, S. M., Lisle, T. L., Grauslund, J. H., Skov, V., Kjær, L., Ottesen, J. T., Gjerstorff, M. F., et al. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1240678 · Cited by 19
It is time to change thrombosis risk assessment for PV and ET?
Passamonti, F., Caramazza, D., Mora, B., Casalone, R., & Maffioli, M. (2014) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2014.07.005 · Cited by 19
CALR versus JAK 2 mutated essential thrombocythaemia – a report on 141 patients
Trifa, A. P., Popp, R. A., Cucuianu, A., Bănescu, C. V., Tevet, M., Martin, B., Murat, M., Vesa, Ș. C., Dima, D. M., Cândea, M., et al. (2014) · British Journal of Haematology · doi:10.1111/bjh.13076 · Cited by 19
Allogeneic Hematopoietic Stem-Cell Transplantation for Myelofibrosis: A Practical Review
Farhadfar, N., Cerquozzi, S., Patnaik, M. M., & Tefferi, A. (2016) · Journal of Oncology Practice · doi:10.1200/jop.2016.013268 · Cited by 19
Budd-Chiari Syndrome
Haque, L., & Lim, J. K. (2020) · Clinics in Liver Disease · doi:10.1016/j.cld.2020.04.012 · Cited by 19
Activating mutations in JAK2 and CALR differentially affect intracellular calcium flux in store operated calcium entry
Bhuria, V., Franz, T. J., Baldauf, C. K., Böttcher, M., Chatain, N., Koschmieder, S., Brümmendorf, T. H., Mougiakakos, D., Schraven, B. L., Kahlfuß, S., et al. (2024) · Cell Communication and Signaling · doi:10.1186/s12964-024-01530-z · Cited by 19
CSF 3R and CALR mutations in paediatric myeloid disorders and the association of CSF 3R mutations with translocations, including t(8; 21)
Sano, H., Ohki, K., Park, H., Shiba, N., Hara, Y., Sotomatsu, M., Tomizawa, D., Taga, T., Kiyokawa, N., Tawa, A., et al. (2015) · British Journal of Haematology · doi:10.1111/bjh.13439 · Cited by 19
CALR mutations are rare in childhood essential thrombocythemia
Langabeer, S. E., Haslam, K., & McMahon, C. (2014) · Pediatric Blood & Cancer · doi:10.1002/pbc.24984 · Cited by 19
Chronic lymphocytic leukemia and myeloproliferative neoplasms concurrently diagnosed: clinical and biological characteristics
Todisco, G., Manshouri, T., Verstovšek, S., Masárová, L., Pierce, S. A., Keating, M. J., & Estrov, Z. E. (2015) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.3109/10428194.2015.1092527 · Cited by 19
Coexistence of P190 BCR/ABL transcript and CALR 52-bp deletion in chronic myeloid leukemia blast crisis: a case report
Saki, N., Seghatoleslami, M., Ketabchi, N., Ordo, A., Asl, J. M., & Golchin, N. (2015) · Mediterranean Journal of Hematology and Infectious Diseases · doi:10.4084/mjhid.2016.002 · Cited by 19
Thrombotic risk correlates with mutational status in true essential thrombocythemia
Bertozzi, I., Peroni, E., Coltro, G., Bogoni, G., Cosi, E., Santarossa, C., Fabris, F., & Randi, M. L. (2016) · European Journal of Clinical Investigation · doi:10.1111/eci.12647 · Cited by 19
Characterization and Prognosis Significance of JAK2 (V617F), MPL, and CALR Mutations in Philadelphia-Negative Myeloproliferative Neoplasms
Singdong, R., Siriboonpiputtana, T., Chareonsirisuthigul, T., Kongruang, A., Limsuwanachot, N., Sirirat, T., Chuncharunee, S., & Rerkamnuaychoke, B. (2016) · Europe PMC (PubMed Central) · doi:10.22034/apjcp.2016.17.10.4647 · Cited by 19
Sequential analysis of 18 genes in polycythemia vera and essential thrombocythemia reveals an association between mutational status and clinical outcome
Paz, D. L., Chauveau, A., Boyer, F., Buors, C., Samaison, L., Cottin, L., Seegers, V., Férec, C., Maréchal, C. L., Guéguen, P., et al. (2016) · Genes Chromosomes and Cancer · doi:10.1002/gcc.22437 · Cited by 21
Megakaryocytes in Myeloproliferative Neoplasms Have Unique Somatic Mutations
Guo, B. B., Allcock, R. J. N., Mirzai, B., Malherbe, J. A. J., Choudry, F., Frontini, M., Chuah, H. S., Liang, J., Kavanagh, S., Howman, R., et al. (2017) · American Journal Of Pathology · doi:10.1016/j.ajpath.2017.03.009 · Cited by 19
Sorted peripheral blood cells identify CALR mutations in B- and T-lymphocytes
Kjær, L., Holmström, M. O., Cordua, S., Andersen, M. H., Svane, I. M., Thomassen, M., Kruse, T. A., Pallisgaard, N., Skov, V., & Hasselbalch, H. C. (2017) · Leukemia & lymphoma/Leukemia and lymphoma · doi:10.1080/10428194.2017.1359743 · Cited by 19
Somatic Mutations in Philadelphia Chromosome-Negative Myeloproliferative Neoplasms
Cristina, S. F., Polo, B., & de Lacerda, J. F. (2018) · Seminars in Hematology · doi:10.1053/j.seminhematol.2018.04.005 · Cited by 20
Mice with Calr mutations homologous to human CALR mutations only exhibit mild thrombocytosis
Shide, K., Kameda, T., Kamiunten, A., Oji, A., Ozono, Y., Sekine, M., Honda, A., Kitanaka, A., Akizuki, K., Tahira, Y., et al. (2019) · Blood Cancer Journal · doi:10.1038/s41408-019-0202-z · Cited by 19
Progress in elucidation of molecular pathophysiology of myeloproliferative neoplasms and its application to therapeutic decisions
Jia, R., & Královics, R. (2019) · International Journal of Hematology · doi:10.1007/s12185-019-02778-9 · Cited by 20
Prevalence of prothrombotic factors in patients with Budd–Chiari syndrome or non‐cirrhotic nonmalignant portal vein thrombosis: A hospital‐based observational study
Fan, J., Wang, Q., Luo, B., Chen, H., Wang, Z., Niu, J., Yuan, J., Yuan, X., Bai, W., He, C., et al. (2019) · Journal of Gastroenterology and Hepatology · doi:10.1111/jgh.14925 · Cited by 19
Enhanced engraftment of human myelofibrosis stem and progenitor cells in MISTRG mice
Lysenko, V., van Wijk, N. W.-V., Zimmermann, K., Weller, M.-C., Bühler, M. M., Wildschut, M. H. E., Schürch, P. M., Fritz, C., Wagner, U., Calabresi, L., et al. (2020) · Blood Advances · doi:10.1182/bloodadvances.2019001364 · Cited by 19
Self-citation
The 2020 revision of the guidelines for the management of myeloproliferative neoplasms
Kim, S., Bae, S. H., Bang, S., Eom, K., Hong, J., Jang, S., Jung, C. W., Kim, H., Kim, H. Y., Kim, M. K., et al. (2020) · The Korean Journal of Internal Medicine · doi:10.3904/kjim.2020.319 · Cited by 19
Mutation specific immunohistochemistry is highly specific for the presence of calreticulin mutations in myeloproliferative neoplasms
Andrici, J., Farzin, M., Clarkson, A., Sioson, L., Sheen, A., Watson, N., Toon, C. W., Koleth, M., STEVENSON, W. C., & Gill, A. J. (2016) · Pathology · doi:10.1016/j.pathol.2016.03.002 · Cited by 19
Increased megakaryocytic proliferation, pro-platelet deposition and expression of fibrosis-associated factors in children with chronic myeloid leukaemia with bone marrow fibrosis
Hussein, K., Stucki‐Koch, A., Göhring, G., Kreipe, H. H., & Suttorp, M. (2017) · Leukemia · doi:10.1038/leu.2017.73 · Cited by 19
CALR-positive myeloproliferative disorder in a patient with Ph-positive chronic myeloid leukemia in durable treatment-free remission: a case report
Dogliotti, I., Fava, C., Serra, A., Gottardi, E. M., Daraio, F., Carnuccio, F., Giugliano, E., Bocchia, M., Saglio, G. N., & Rege‐Cambrin, G. (2017) · Stem Cell Investigation · doi:10.21037/sci.2017.06.02 · Cited by 19
Impact of treatment for adolescent and young adults with essential thrombocythemia and polycythemia vera
Beauverd, Y., Ianotto, J., Thaw, K. H., Sobas, M., Sadjadian, P., Curto‐García, N., Shih, L., Devos, T., Krochmalczyk, D., Galli, S., et al. (2025) · Leukemia · doi:10.1038/s41375-025-02545-2 · Cited by 18
Self-citation
The role of driver mutations in myeloproliferative neoplasms: insights from mouse models
Shide, K. (2019) · International Journal of Hematology · doi:10.1007/s12185-019-02803-x · Cited by 19
Proteogenetic drug response profiling elucidates targetable vulnerabilities of myelofibrosis
Wildschut, M. H. E., Mena, J., Doerdelmann, C., van Oostrum, M., Hale, B. D., Settelmeier, J., Festl, Y., Lysenko, V., Schürch, P. M., Ring, A., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-42101-z · Cited by 18

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