Myeloid Sarcoma With CBFB-MYH11 Fusion (inv(16) or t(16;16)) Prevails in the Abdomen

Abstract

Abstract Objectives Myeloid sarcoma with CBFB-MYH11 fusion may be enriched in abdominal sites. The clinicopathologic features of 11 cases are reported. Methods We collected clinical features, morphology, immunophenotype, and bone marrow (BM) involvement of myeloid sarcoma cases with CBFB-MYH11 fusion. Results Eleven of 29 total myeloid sarcoma cases were CBFB-MYH11 positive and all 11 involved abdominal sites. The blastic infiltrate was associated with eosinophils in four of 11 cases and plasmacytoid dendritic cell (pDC) nodules in four of six cases. CD34, CD117, and myeloperoxidase were expressed in eight of nine, 10 of 10, and 10 of 10 cases, respectively. Ten of 10 cases showed no BM involvement. Conclusions Our current series, combined with a literature review, identifies a compelling series of 31 (94%) of 33 cases of myeloid sarcoma with CBFB-MYH11 fusion showing a marked predilection for abdominal sites. In addition, the lack of obvious associated eosinophils, presence of pDC nodules, and lack of concurrent BM involvement suggest that “myeloid sarcoma with CBFB-MYH11 fusion” may represent a unique phenomenon.