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Open Access 07-06-2025 | Fluorescence in Situ Hybridization | IMAGES

CD45-Positive Small Lymphocyte-Like Myeloma with IGH::CCND1 Fusion and TP53 Mutations

Authors: Ke Xu, Evan Vitsaras, Anna Childerhouse, Temenuzhka Boneva, Elisabeth Nacheva, Rajeev Gupta

Published in: Indian Journal of Hematology and Blood Transfusion

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Excerpt

A 52-year-old male presented with hypercalcaemia and acute kidney injury. The serum-free kappa chain was 956 mg/L, and the K:L ratio was 119; paraprotein was not detected. A bone marrow aspirate showed excess small lymphocytoid cells (Fig. 1A). They were positive for CD45 and CD56 and negative for CD34, CD19, CD2, CD5, CD7, CD4, CD8, CD33, CD117, CD15, CD13, CD57, surface Ig, MPO, and cTdT (Fig. 1B). Small lymphocyte-like myeloma was suspected, but the addition CD38, CD138 and cytoplasmic Ig could not be performed on flow cytometry due to sample limitation. Targeted CD138 cell FISH showed IGH::CCND1 fusion (Fig. 1C). Trephine IHC showed CD138+, CD56+, cyclin D1+, CD20+, kappa-restricted small plasma cells (Fig. 1D), confirming the diagnosis of myeloma. Lymphoid NGS identified pathogenic TP53 p.Glu285Lys (VAF 62%, COSM10722) and TP53 p.Val272Leu (VAF 19%, COSM10859) variant. The patient had a short response to multiple lines of treatment, refractory to elranatamab and had only two years of overall survival. …
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Metadata
Title
CD45-Positive Small Lymphocyte-Like Myeloma with IGH::CCND1 Fusion and TP53 Mutations
Authors
Ke Xu
Evan Vitsaras
Anna Childerhouse
Temenuzhka Boneva
Elisabeth Nacheva
Rajeev Gupta
Publication date
07-06-2025
Publisher
Springer India
Published in
Indian Journal of Hematology and Blood Transfusion
Print ISSN: 0971-4502
Electronic ISSN: 0974-0449
DOI
https://doi.org/10.1007/s12288-025-02063-2

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