A POLE Splice Site Deletion Detected in a Patient with Biclonal CLL and Prostate Cancer: A Case Report.
Int J Mol Sci
; 22(17)2021 Aug 30.
Article
in En
| MEDLINE
| ID: mdl-34502317
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.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Prostatic Neoplasms
/
Leukemia, Lymphocytic, Chronic, B-Cell
/
Alternative Splicing
/
Polymorphism, Single Nucleotide
/
DNA Polymerase II
/
Poly-ADP-Ribose Binding Proteins
Type of study:
Prognostic_studies
Limits:
Humans
/
Male
/
Middle aged
Language:
En
Year:
2021
Type:
Article