A myeloproliferative neoplasm with translocation t(8;9)(p22;p24) involving JAK2 gene.

نویسندگان

  • Nakhle Saba
  • Hana Safah
چکیده

A 35-year-old male presented with a several-weeks history of abdominal discomfort, early satiety, low-grade fever, night sweats, and weight loss. Physical examination revealed pale skin and a massive hepatosplenomegaly. A complete blood count showed severe anemia, thrombocytopenia, and marked leukocytosis (100 000/mL) with 10% blasts, eosinophilia (4000/mL), and basophilia (3000/mL). Peripheral smear demonstrated blasts (panel A), early myeloid precursors (panels A-C), eosinophilia (panels A-C), and basophilia (panel C). Bone marrow biopsy showed myeloid lineage hyperplasia. Cytogenetic analysis was significant for t(8;9)(p22;p24). Testing for JAK2 mutation was negative, and FISH analysis failed to show BCR-ABL1 or any abnormality involving PDGFRA, PDGFRB, or FGFR1 genes. The patient was diagnosed with myeloproliferative neoplasm (MPN)-unclassified after excluding other hematologic neoplasms and causes of eosinophilia/basophilia.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

A t(8;9)(p22;p24)/PCM1-JAK2 Translocation in a Patient With Myeloproliferative Neoplasm and Myeloid Sarcoma: First Report in Korea

Dear Editor, Translocation t(8;9)(p22;p24) has been reported in diverse hematologic neoplasms, including acute leukemia, myeloproliferative neoplasm (MPN), and myelodysplastic syndromes/myeloproliferative neoplasm. These findings indicate that the mutation occurs in pluripotent, lymphoid-myeloid stem cells [1]. The pericentriolar material 1 (PCM1) gene, located on chromosome 8p22, encodes a pro...

متن کامل

t(8;9)(p22;p24)/PCM1-JAK2 Activates SOCS2 and SOCS3 via STAT5

Fusions of the tyrosine kinase domain of JAK2 with multiple partners occur in leukemia/lymphoma where they reportedly promote JAK2-oligomerization and autonomous signalling, Affected entities are promising candidates for therapy with JAK2 signalling inhibitors. While JAK2-translocations occur in myeloid, B-cell and T-cell lymphoid neoplasms, our findings suggest their incidence among the last g...

متن کامل

Replacement of unfractionated heparin by low-molecular-weight heparin for postorthopedic surgery antithrombotic prophylaxis lowers the overall risk of symptomatic thrombosis because of a lower frequency of heparin-induced thrombocytopenia

1. Baxter EJ, Scott LM, Campbell PJ, et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet. 2005;365:10541061. 2. Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7:387-397. 3. James C, Ugo V, Le Couedic ...

متن کامل

Somatic JAK2 mutations and their tumor phenotypes.

Activating JAK2 mutations can arise from chromosomal translocations or point mutations/deletions/insertions. The former result in JAK2 fusion proteins that always involve the JAK2 kinase domain (JH1), in association with an oligomerization domain from one of several partner proteins, which promotes constitutive JAK2 phosphorylation and signal activation. Tumor phenotypes associated with JAK2 fu...

متن کامل

Transformation of an Unclassified Myeloproliferative Neoplasm with a Rare BCR-JAK2 Fusion Transcript Resulting from the Translocation (9;22)(p24;q11)

BCR-ABL1 negative myeloproliferative neoplasms (MPNs) are known to contain alterations of the tyrosine kinase JAK2 (located on 9p24) that result in constitutive activation of the encoded protein. JAK2 fusions are reported in acute and chronic leukemias of myeloid and lymphoid phenotypes. Here, we report an unclassified case of MPN (MPN-U) showing a t(9;22)(p24;q11), which generates a BCR-JAK2 f...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:
  • Blood

دوره 122 6  شماره 

صفحات  -

تاریخ انتشار 2013