2019 Research Forum

Applicant: Leila Moosavi MD R3 Faculty Sponsor: Everardo Cobos MD

A Case of AML and Trisomy 8 with Concomitant Factor VII Deficiency

Leila Moosavi MD R3, Carlos D’Assumpcao MD R1, Jeffrey Coleman MD R2, Jonathan Bowen MS IV, Arash Heidari MD, Everardo Cobos MD

INTRODUCTION AML is rapidly lethal unless treated with intensive chemotherapy and/or targeted therapies together with supportive care. Trisomy 8 is the most frequent cytogenetically gained aberration in AML. Here, we share our findings of mosaic trisomy 8 in a leukemia patient with a translocation of chromosome X and 8. 41-year-old Hispanic female with no past medical history presented with fever, severe headache, fatigue, bleeding gums, menorrhagia, and severe pancytopenia. Blast was found in the peripheral blood smear guided our suspicion of an underlying hematological abnormality. Biopsy showed 70% bone marrow cellularity with evidence of acute undifferentiated leukemia, decreasedmegakaryocytes, and atypical plasma cell. Daunorubicin and cytarabine were used for chemotherapy induction. After completing seven days of induction, she developed neutropenic fever. Her course was complicated with bloodstream infection from central line with Klebsiella pneumoniae, esophageal candidiasis, severe mucositis, and neutropenic enterocolitis serum was positive for CMV and stool for blastocystis hominis. She was placed on antibiotics, micafungin, ganciclovir. Fever resolved and neutropenia recovered after 16 days post induction. Bone marrow cytogenetic analysis revealed mosaic trisomy 8 with translocation of chromosome X and 8 (47, x, t(x:8) (q13:q24.1), +8(6)/46,XX[14]). Flow cytometry showed blasts dim CD38+, CD117+, dim HLA-DR+, HLA-B27, and negative for lymphoid markers. Furthermore, gene mutations were detected CEBPA, IDH1, JAK2 V617F, and U2AF1 which confirmed the presence of abnormal neoplastic clone, consistent with AML. Additionally, patient had consistently isolated elevated PT without bleeding events. Factor VII level was deficient. CONCLUSION While trisomy 8 is the most common trisomy in AML, this is the first reported case to the best of our knowledge of t(8,X) translocation resulting in AML, as well as an incidental finding of factor VII deficiency. Most commonly, factor VII deficiency is congenital but it may be possible to acquire inhibitors of coagulation.

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