Dingani Nkosi1, Andrew W. Allbee2, Paul G. Rothberg1, Jonathan W. Friedberg3 and Andrew G. Evans1 1Department of Pathology and Laboratory Medicine, University of Rochester, Rochester, New York 14642, USA; 2University of Rochester School of Medicine and Dentistry, University of Rochester, Rochester, New York 14642, USA; 3Wilmot Cancer Institute, University of Rochester, Rochester, New York 14642, USA Corresponding author: andrew_evansurmc.rochester.edu Abstract

The potential for more than one distinct hematolymphoid neoplasm to arise from a common mutated stem or precursor cell has been proposed based on findings in primary human malignancies. Particularly, angioimmunoblastic T-cell lymphoma (AITL), which shares a somatic mutation profile in common with other hematopoietic malignancies, has been reported to occur alongside myeloid neoplasms or clonal B-cell proliferations, with identical mutations occurring in more than one cell lineage. Here we report such a case of an elderly woman who was diagnosed over a period of 8 years with diffuse large B-cell lymphoma, polycythemia vera, and AITL, each harboring identical somatic mutations in multiple genes. Overall, at least five identical nucleotide mutations were shared across multiple specimens, with two identical mutations co-occurring at variable variant allele frequencies in all three specimen types. These findings lend credence to the theory that a common mutated stem cell could give rise to multiple neoplasms through parallel hematopoietic differentiation pathways.

Received September 12, 2023. Accepted November 27, 2023.

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