Myeloid Sarcoma in a Patient with Marfan Syndrome: A Case Report and Review of Literature

Shyam KP, Kristi U, Ashbita P, Ishmael J1 and Ezekwudo D

Department of Hematology and Medical Oncology, Corewell Health William Beaumont University Hospital, USA Department of Hematology and Medical Oncology, Cleveland Clinic Taussig Cancer Institute, USA Department of Pathology, Corewell Health William Beaumont University Hospital, USA

^*Correspondance to: Shyam K Poudel 

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Abstract:

Myeloid sarcoma is a rare Extramedullary (EM) manifestation of Acute Myeloid Leukemia (AML) and can precede the involvement of bone marrow. Clinical presentations can be diverse based on the size and location of the disease and can often be misdiagnosed. While imaging can aid in diagnosis and response to treatment, tissue diagnosis with further cytogenetic and molecular information aid in selecting treatment and predicting prognosis. Here, we present a case of 38-year-old male with Marfan syndrome who presented with small bowel obstruction in the initial imaging. Pathologic examination of the resected bowel specimen showed an extensive involvement of myeloid sarcoma. Next-Generation Sequencing (NGS) performed on the resected colonic tissue identified a CBFβ/ MYH11 gene fusion, as well as mutations in WT1 (Variant Allele Frequency, VAF 48.8%) and CBL (VAF 20%). The patient was treated with myeloid sarcoma-directed induction therapy with a combination of cytarabine and daunorubicin followed by 3 cycles of consolidative therapy with High-Dose Cytarabine (HiDAC). Subsequent imaging demonstrated sustained Complete Remission (CR) and a post treatment bone marrow biopsy done after completion of consolidation therapy suggested no morphologic or cytogenetic evidence of acute leukemia. Patient continues to follow up in the ambulatory oncology clinic and is currently 13 months post completion of his consolidation therapy with sustained clinical remission.

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Cite the Article:

Shyam KP, Kristi U, Ashbita P, Ishmael J, Ezekwudo D. Myeloid Sarcoma in a Patient with Marfan Syndrome: A Case Report and Review of Literature. Ann Clin Case Rep. 2024; 9: 2670..