Primary peritoneal myeloid sarcoma in association with CBFB/MYH11 fusion

Justin J. Kuhlman, Zaid H. Abdel Rahman, Liuyan Jiang, David M. Menke, James M. Foran, Hemant S. Murthy

Research output: Contribution to journalArticlepeer-review


Myeloid sarcoma, also known as chloroma or granulocytic sarcoma is an extramedullary disease process that typically presents in association with acute myeloid leukemia during initial presentation or at relapse. Often associated with cytogenetic mutations, including t(8;21)(q22;q22); RUNX1/RUNX1T1, and less frequently with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB/MYH11, myeloid sarcoma is most commonly discovered in skin, soft tissue, bone, and connective tissue. In rare circumstances, myeloid sarcoma can present without any evidence of bone marrow or leukemic involvement. These cases of de novo myeloid sarcoma are rare, and are commonly misdiagnosed due to similarities with other entities. We report an unusual case of a primary de novo peritoneal myeloid sarcoma, in association with inv(16)(p13;q22) and clonal heterogeneity at different sites of involvement, that has responded well to AML induction therapy and consolidation treatment with gemtuzumab ozogamicin and high dose cytarabine. Cytogenetics, immunophenotyping, and chromosomal analysis, were each critical in establishing a proper diagnosis as well as helping to develop appropriate therapeutic strategies for this rare entity.

Original languageEnglish (US)
Article number100238
JournalLeukemia Research Reports
StatePublished - Jan 2021


  • CBFB/MYH11
  • De novo myeloid sarcoma
  • Inv(16)
  • Myeloid sarcoma
  • Primary peritoneal myeloid sarcoma

ASJC Scopus subject areas

  • Hematology
  • Oncology


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