"CLO24-084: Myeloid Sarcoma in a Patient With Marfan Syndrome" by Nitya Batra, Atulya Aman Khosla et al.
 

CLO24-084: Myeloid Sarcoma in a Patient With Marfan Syndrome

Document Type

Article

Publication Date

4-5-2024

Publication Title

Journal of the National Comprehensive Cancer Network

Abstract

Myeloid sarcomas (MS) is an extramedullary solid malignancy defined by WHO as tumor mass consisting of myeloid blasts with or without maturation occurring at an anatomic site other than the bone marrow. It has been most commonly reported in acute myeloid leukemia (AML), however, it can occur solitarily or coexist with myelodisplastic syndrome (MDS) and other myeloproliferative neoplasms. Most common isolated sites are skin, bone, soft tissues and lymph nodes. We present a rare gastrointestinal manifestation of MS presenting as small bowel obstruction in a patient with Marfan Syndrome. Case: A 37-year-old male with a medical history significant for Marfan syndrome, thoracoabdominal aortic aneurysm presented to the emergency department with nausea, vomiting, and abdominal pain. Initial CT scan of the abdomen and pelvis was concerning for partial small bowel obstruction which was managed conservatively. In light of worsening nausea and increasing nasogastric tube output, a repeat CT scan was obtained which revealed acutely worsening obstruction. He subsequently underwent exploratory laparotomy and bowel resection. Pathology of small bowel revealed sheets of abnormal poorly differentiated cells with brisk mitotic activity and numerous tangible body macrophages extending deeply into bowel wall muscularis and serosa. By immunohistochemistry, the abnormal cells were positive for CD45, CD43, CD34, CD68, myeloperoxidase, and TdT- consistent with myeloid sarcoma. Bone marrow biopsy and flow cytometry were performed which revealed normocellular marrow with trilineage hematopoiesis and no immunophenotypic evidence of acute leukemia. PET scan showed scattered foci of hypermetabolism corresponding with lymph nodes within the neck, chest, abdomen, and pelvis as well as in a lesion abutting the ileocecal valve. Patient was started on induction chemotherapy with 7 + 3 regimen of cytarabine and daunorubicin, with repeat PET scan showing complete response. Discussion: A de novo MS with no evidence of bone marrow involvement is rare, but often precedes the development of a florid leukemia. If untreated, AML develops within 10.5–21 months in 90% of people with MS. To our knowledge, this is the first reported case of MS in Marfan syndrome. Increased association of malignancies like thyroid and testicular cancers has been previously reported with MS but further studies are warranted to delineate leukemia carcinogenesis in Marfan syndrome.

Volume

22

Issue

2.5

DOI

10.6004/jnccn.2023.7231

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