Lab Med Online.  2022 Jan;12(1):53-57. 10.47429/lmo.2022.12.1.53.

JAK2V617F-Positive Acute Myeloid Leukemia: Clinicopathological Features of Two Cases

• Lee Y
• Lee JY
• Lee JO
• Bang SM
• Hwang SM

• KMID: 2538584
• DOI: http://doi.org/10.47429/lmo.2022.12.1.53

Abstract

Although the JAK2V617F 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 JAK2V617F 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 JAK2V617F-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 JAK2and MPL were identified in one of the patients. Presence of the JAK2V617F mutation in AML does not imply a blast phase of an occult MPN and suggests a separate clinical entity.

Keyword

Acute myeloid leukemia; JAK2mutation; Next-generation sequencing

Figure

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  Fig. 1 Morphological features of the bone marrow from patients with AML carrying the JAK2 V617F mutation. (A) Patient 1: Micromegakaryocytes (hematoxylin-eosin, 400×). (B) Patient 1: diffuse reticulin fibrosis (MF-2) (reticulin, 400×). (C) Patient 2: Hypolobated, dysplastic megakaryocytes (hematoxylin-eosin, 400×). (D) Patient 2: diffuse reticulin fibrosis (MF-2) (reticulin, 200×).

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  Fig. 2 IGV browser visualization of the NGS results. (A) Patient 1: NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) in the JAK2 gene. (B) Patient 1: NM_005373.2(MPL):c.1543T>A (p.Trp515Arg) in the MPL gene. (C) Patient 1: NM_005089.3(ZRSR2):c.1093_1103del (p.Glu365Profs*16) in the ZRSR2 gene. (D) Patient 2: NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) in the JAK2 gene. (E) Patient 2: NM_005475.2(SH2B3):c.1009dup (p.Ser337Phefs*3) in the SH2B3 gene.

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  Fig. 3 Morphological features of the bone marrow from patient 1 after stem cell transplantation (SCT). (A) BM biopsy after 1st SCT (CD61, 400×). (B) BM biopsy after 2nd SCT (hematoxylin-eosin, 400×). Micromegakaryocytes could be occasionally observed in a small cellular area.

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