Lab Med Online.  2012 Apr;2(2):101-104.

A Case of Acute Myeloid Leukemia Transformed from JAK2 V617F-Positive Chronic Neutrophilic Leukemia

• Lee JH
• Ha JS
• Ryoo NH
• Jeon DS
• Kim JR

Abstract

Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm (MPN) characterized by persistent peripheral blood neutorphilia, bone marrow hypercellularity of neutrophilic granulocyte proliferation and hepatosplenomegaly. Acquired somatic mutation, JAK2 V617F, is the only molecular marker known to have association with classic BCR-ABL1 negative MPNs. However, JAK2 V617F has been detected occasionally in other MPNs such as CNL or other disease entities. We experienced a case of CNL with JAK2 V617F mutation. The patient was diagnosed according to the 2008 WHO classification criteria, and developed AML 9 months after the diagnosis of CNL. The JAK2 V617F was detected in the bone marrow throughout the clinical course. More cases are needed to establish the role of JAK2 V617F in the pathogenesis, prognosis and disease course of CNL.

Keyword

AML; Chronic neutrophilic leukemia; JAK2 V617F; Myeloproliferative neoplasm

MeSH Terms

Bone Marrow
Granulocytes
Humans
Leukemia, Myeloid, Acute
Leukemia, Neutrophilic, Chronic
Neutrophils
Prognosis

Figure

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  Fig. 1 The peripheral blood smear shows marked neutrophilic leukocytosis (Wright stain, ×400).

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  Fig. 2 The bone marrow aspirate at diagnosis shows marked myeloid hyperplasia, particularly mature neutrophils (Wright stain, ×1,000).

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  Fig. 3 The bone marrow aspirate 9 months after diagnosis shows proliferation of myeloblasts. The arrow indicates a blast with auer rod (Wright stain, ×1,000).

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  Fig. 4 The chromatogram of direct sequencing for JAK2 exon 14. The JAK2 V617F mutation is detected in serial three bone marrow samples. The arrows indicate the substitution of Guanine to Thymine base result in the JAK2 V617F mutation.

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