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Hematopoietic neoplasms with 9p24/JAK2 rearrangement: a multicenter study
Guilin Tang1, John Kennedy Sydney Sir Philip2, Olga Weinberg3
1Department of Hematopathology, The University of Texas M.D. Anderson Cancer Center, Houston, TX, USA.
Summary
Hematopoietic neoplasms with 9p24/JAK2 rearrangement are rare, primarily involving the PCM1-JAK2 fusion. These rare cancers present as myeloproliferative neoplasms or B-lymphoblastic leukemia.
Area of Science:
- Hematology
- Oncology
- Molecular Genetics
Background:
- 9p24/JAK2 rearrangements are uncommon genetic alterations in hematopoietic neoplasms.
- The t(8;9)(p22;p24)/PCM1-JAK2 fusion is a recently described entity.
- Understanding the spectrum of neoplasms associated with 9p24/JAK2 rearrangements is crucial for diagnosis and classification.
Purpose of the Study:
- To investigate the clinicopathological features of hematopoietic neoplasms harboring 9p24/JAK2 rearrangements.
- To characterize neoplasms associated with the PCM1-JAK2 fusion and other JAK2 partner genes.
- To differentiate presentations of myeloproliferative neoplasms (MPN) and B-lymphoblastic leukemia (B-ALL) with these rearrangements.
Main Methods:
- Retrospective analysis of ten patients with t(8;9)(p22;p24)/PCM1-JAK2 and three with t(9p24;v)/JAK2.
- Review of clinical data, bone marrow morphology, and cytogenetic/molecular findings.
- Comparison of clinicopathological features across different subtypes of 9p24/JAK2 rearranged neoplasms.
Main Results:
- The majority of cases (n=7) presented with myeloproliferative neoplasm (MPN) features, including eosinophilia and myelofibrosis.
- Four patients presented with B-lymphoblastic leukemia (B-ALL); two were MPN in B-lymphoblastic crisis, and two were de novo BCR-ABL1-like B-ALL.
- Cases with t(8;9)(p22;p24)/PCM1-JAK2 showed heterogeneous but common clinicopathological characteristics; t(9p24;v)/JAK2 cases were extremely rare.
Conclusions:
- Hematopoietic neoplasms with 9p24/JAK2 rearrangement are exceptionally rare.
- The t(8;9)(p22;p24)/PCM1-JAK2 fusion is the most frequent type, often presenting as MPN.
- De novo B-ALL with t(9p24;v)/JAK2 may represent a distinct entity within the Philadelphia-like B-ALL category.
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