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- Title
A POLE Splice Site Deletion Detected in a Patient with Biclonal CLL and Prostate Cancer: A Case Report.
- Authors
Steiner, Markus; Gassner, Franz J.; Parigger, Thomas; Neureiter, Daniel; Egle, Alexander; Geisberger, Roland; Greil, Richard; Zaborsky, Nadja
- Abstract
Chronic lymphocytic leukemia (CLL) is considered a clonal B cell malignancy. Sporadically, CLL cases with multiple productive heavy and light-chain rearrangements were detected, thus leading to a bi- or oligoclonal CLL disease with leukemic cells originating either from different B cells or otherwise descending from secondary immunoglobulin rearrangement events. This suggests a potential role of clonal hematopoiesis or germline predisposition in these cases. During the screening of 75 CLL cases for kappa and lambda light-chain rearrangements, we could detect a single case with CLL cells expressing two distinct kappa and lambda light chains paired with two separate immunoglobulin heavy-chain variable regions. Furthermore, this patient also developed a prostate carcinoma. Targeted genome sequencing of highly purified light-chain specific CLL clones from this patient and from the prostate carcinoma revealed the presence of a rare germline polymorphism in the POLE gene. Hence, our data suggest that the detected SNP may predispose for cancer, particularly for CLL.
- Subjects
PROSTATE cancer; B cell lymphoma; CHRONIC lymphocytic leukemia; PROSTATE; CLONE cells; B cells; PROSTATE-specific antigen
- Publication
International Journal of Molecular Sciences, 2021, Vol 22, Issue 17, p9410
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms22179410