JAK2 V617F-Positive Acute Myeloid Leukemia: Clinicopathological Features of Two Cases
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초록
Although the JAK2 V617F mutation is a common genetic basis for the BCR-ABL1-negative myeloproliferative neoplasm (MPN), it is very rarely observed in acute myeloid leukemia (AML) without antecedent MPN. While JAK2 V617F has a well-defined role as a driver mutation in MPNs, its role in de novo AML remains elusive. Here, we retrospectively identified two patients with JAK2 V617F-positive AML by next-generation sequencing. These patients were diagnosed with AML without a history of an antecedent MPN. The presence of dysmegakaryopoiesis and a non-complex karyotype were consistent with the features reported in previous cases. Concurrent mutations in JAK2 and MPL were identified in one of the patients. Presence of the JAK2 V617F mutation in AML does not imply a blast phase of an occult MPN and suggests a separate clinical entity.
Abstract
Although the JAK2 V617F mutation is a common genetic basis for the BCR-ABL1-negative myeloproliferative neoplasm (MPN), it is very rarely observed in acute myeloid leukemia (AML) without antecedent MPN. While JAK2 V617F has a well-defined role as a driver mutation in MPNs, its role in de novo AML remains elusive. Here, we retrospectively identified two patients with JAK2 V617F-positive AML by next-generation sequencing. These patients were diagnosed with AML without a history of an antecedent MPN. The presence of dysmegakaryopoiesis and a non-complex karyotype were consistent with the features reported in previous cases. Concurrent mutations in JAK2 and MPL were identified in one of the patients. Presence of the JAK2 V617F mutation in AML does not imply a blast phase of an occult MPN and suggests a separate clinical entity.
참고문헌 (9)
- Swerdlow SH, "WHO classification of tumours of haematopoietic and lymphoid tissues", pp.39~53 (2017), International Agency for Research on Cancer
- Steensma DP, "JAK2 V617F is a rare finding in de novo acute myeloid leukemia, but STAT3 activation is common and remains unexplained", Leukemia, 20, pp.971~978 (2006)
- Lee JW, "The JAK2 V617F mutation in de novo acute myelogenous leukemias", Oncogene, 25, pp.1434~1436 (2006)
- Hidalgo-López JE, "Medeiros LJ, Estrov Z, Yin CC, Verstovsek S, et al. Morphologic and molecular characteristics of de novo AML with JAK2 V617F mutation", J Natl Compr Canc Netw, 15, pp.790~796 (2017)
- Aynardi J, "JAK2 V617F-positive acute myeloid leukemia(AML) : a comparison between de novo AML and secondary AML transformed from an underlying myeloproliferative neoplasm. A study from the Bone Marrow Pathology Group", Br J Haematol, 182, pp.78~85 (2018)
- De Roeck L, "Coexisting driver mutations in MPN : clinical and molecular characteristics of a series of 11 patients", Hematology, 23, pp.785~792 (2018)
- 장미애, "A Rare Case of Essential Thrombocythemia with Coexisting JAK2 and MPL Driver Mutations", Journal of Korean Medical Science, 35(23), pp.1~5 (2020), 대한의학회[DOI]
- Defour JP, "Oncogenic activation of MPL", thrombopoietin receptor by 17 mutations at W515 : implications for myeloproliferative neoplasms, 2016, pp.30, 1214~1216
- Mansier O, "Clinical and biological characterization of MPN patients harboring two driver mutations, a French intergroup of myeloproliferative neoplasms(FIM)study", Am J Hematol, 93, pp.E84~E86 (2018)