Co-existence of<i>JAK2</i>V617F and<i>CALR</i>mutations in primary myelofibrosis

Zamora, Lurdes; Xicoy, Blanca; Cabezón, Marta; Fernández, Carlos García-Gutiérrez; Marcé, Sílvia; Vélez, Patricia; Xandri, Marisol; Gallardo, David; Millá, Fuensanta; Feliú, Evarist; Boqué, Concepción

doi:10.3109/10428194.2015.1015124

Cited by 22 publications

(17 citation statements)

References 7 publications

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“…Interestingly, it was described the presence of CALR mutation in peripheral granulocytes of two PV patients negative for both JAK2 V617F and JAK2 exon12 mutations [25]. The coexistence of JAK2 V617F and CALR mutations have been found in rare cases of refractory anemia with ringed sideroblasts associated with marked thrombocytosis [26], PMF [16,27], ET [28][29][30] and PV [30].…”

Section: Introductionmentioning

confidence: 95%

CALR mutations screening in wild type JAK2V617F and MPLW515K/L Brazilian myeloproliferative neoplasm patients

Nunes

Lima

Chauffaille

et al. 2015

Blood Cells, Molecules, and Diseases

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Section: Introductionmentioning

confidence: 95%

CALR mutations screening in wild type JAK2V617F and MPLW515K/L Brazilian myeloproliferative neoplasm patients

Nunes

Lima

Chauffaille

et al. 2015

Blood Cells, Molecules, and Diseases

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“…This patient was still in complete remission without cytoreductive therapy as of July 2014. In the study of Zmora et al [19] the double positive patient was 86 year old male with CALR mutation c.1142_1144del; E380del. A diagnosis of PMF was made on the basis of the clinical characteristics, morphology and JAK2V617F mutation status.…”

Section: Discussionmentioning

confidence: 98%

“…The occurrence of JAK2V617F/CALR double mutants may be under-reported because many groups follow the initial findings of mutual exclusiveness for both genes [15]. Double-mutant patients might have a different phenotype and clinical course from the JAK2-positive or CALR-positive subgroups and identification of the true frequency of these patients may be an important factor for defining the prognosis, risk factors and outcomes for MPN patients [15,19,20].…”

Section: Discussionmentioning

confidence: 99%

“…However there are few recent studies reporting coexistence of JAK2V617F with CALR or MPL. According to our knowledge so far there have been only eleven publications reporting twenty-five ET, three PMF, one PV and one MPN-U [2, 3, 12-21] yet very few discussing the phenotype and clinical outcomes with respect to this coexistence [15,16,19,20].…”

Section: Introductionmentioning

confidence: 98%

See 1 more Smart Citation

Coexisting JAK2V617F and CALR Exon 9 Mutation in Essential Thrombocythemia

Rashid

Ahmed

et al. 2016

Indian J Hematol Blood Transfus

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Classic "BCR-ABL1-negative" MPN is an operational sub-category of MPN that includes polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) harboring JAK2V617F as the most common mutation. JAK2V617F can be detected in about 95 % of patients with PV while remaining 5 % of PV patients carry a somatic mutation of JAK2 exon 12. Approximately one-third of patients with ET or PMF do not carry any mutation in JAK2 or MPL. In December 2013, mutations were described in calreticulin (CALR) gene in 67-71 and 56-88 % of JAK2V617F and MPL negative patients with ET and PMF, respectively. Since this discovery CALR mutations have been reported to be mutually exclusive with JAK2V617F or MPL mutations. However recently few studies (eleven published reports) reported the coexistence of JAK2V617F and CALR in MPN. In the present study we are reporting JAK2V617F positive ET patient from our center with coexisting CALR exon 9 mutation type c.1214_1225del12 (p.E405_D408del) that was never reported before as a coexisting mutation and describing in detail the clinical outcomes.

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“…1,2 With rare exceptions, CALR mutations are mutually exclusive with JAK2 or MPL mutations and have rarely been reported in conjunction with a BCR-ABL1 translocation. [3][4][5][6] Most cases of MPNs are sporadic, but 7% to 11% of cases have evidence of familial predisposition. [7][8][9] Of these MPN families, approximately 60% have a single MPN phenotype in all affected kindreds, but the remaining 40% present with a variety of phenotypes.…”

Section: Introductionmentioning

confidence: 99%