AJHE2211 - CME/CMLE - Histiocytic Sarcoma with CCND1 Gene Rearrangement Clonally Related and Transdifferentiated from Mantle Cell Lymphoma-Histiocytic Sarcoma with CCND1 Gene Rearrangement Clonally Related and Transdifferentiated from Mantle Cell Lymphoma

Histiocytic Sarcoma with CCND1 Gene Rearrangement Clonally Related and Transdifferentiated from Mantle Cell Lymphoma

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A study published in the American Journal of Clinical Pathology discusses the clonal evolution of histiocytic sarcoma (HS) from a blastoid variant of mantle cell lymphoma (MCL). This case is the first to provide evidence of this evolution based on cytogenetic and molecular studies. The patient underwent various therapies, including R-CHOP, bendamustine, rituximab, ibrutinib, venetoclax, and CAR-T therapy, which may have driven the transdifferentiation process. The HS in this case showed CCND1 rearrangement, NRAS pathogenic variant, and other gene alterations like TP53, NOTCH2, CREBBP, and NFKBIE, typically seen in B-cell lymphomas. The report highlights the importance of understanding the underlying pathogenesis of such transformations for better therapeutic management. The study also discusses the genetic alterations observed in the patient, linking them to the RAS/MAPK pathway and common mutations in B-cell lymphomas. Additionally, it mentions the potential role of previous treatments in promoting the aggressive transformation seen in this case. This report sheds light on the complex evolution of hematopoietic malignancies and the need for further research in this area to guide clinical interventions and improve patient outcomes.

Keywords

histiocytic sarcoma

clonal evolution

mantle cell lymphoma

cytogenetic studies

molecular studies

R-CHOP therapy

CAR-T therapy

genetic alterations

RAS/MAPK pathway

hematopoietic malignancies