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Topics:
Hematologic Malignancies • Pediatric Hematology/Oncology • General Internal Medicine • Myeloproliferative Neoplasms • Hematology • Pediatric Hematology • Benign Hematology
What experience have you had with familial clustering of polycythemia vera?
Patient has a father and sister with both polycythemia vera with confirmed JAK2 V617F mutations. There is also suspicion for PV in a niece with pulmonary embolism at young age, but work up is not yet complete. Are there any known hereditary mutations that predispose to a JAK2 mutation?
Answer from: at Academic Institution
JAK2 V617F is a somatic mutation that can be acquired as early as in utero based on elegant work by Williams et al., PMID 35058638.There is some data available regarding familial MPN predisposition syndromes and this review very nicely summarizes much of the available data (Lim et al., PMID 39316992...
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