期刊
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
卷 22, 期 17, 页码 -出版社
MDPI
DOI: 10.3390/ijms22179410
关键词
chronic lymphocytic leukemia; prostate cancer; case report; immunoglobulin light chain; POLE
资金
- Austrian Science Fund (FWF) [P32762-B]
- FWF program Immunity in Cancer and Allergy [FWF W1213]
- SCRI-LIMCR
- City of Salzburg
- Province of Salzburg
- FWF [P28201]
- WISS 2025 (Cancer Cluster Salzburg, CCSII-IOS)
- Austrian Science Fund (FWF) [P28201, P32762] Funding Source: Austrian Science Fund (FWF)
Chronic lymphocytic leukemia (CLL) is associated with clonal hematopoiesis or germline predisposition, and in some cases, there may be bi- or oligoclonal CLL disease. Additionally, a rare germline polymorphism in the POLE gene detected in CLL patients may predispose them to cancer, particularly CLL.
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.
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