A POLE splice site deletion detected in a patient with biclonal CLL and prostate cancer: A case report

2Citations
Citations of this article
10Readers
Mendeley users who have this article in their library.

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.

References Powered by Scopus

Trimmomatic: A flexible trimmer for Illumina sequence data

40403Citations
N/AReaders
Get full text

The Sequence Alignment/Map format and SAMtools

40118Citations
N/AReaders
Get full text

ANNOVAR: Functional annotation of genetic variants from high-throughput sequencing data

10074Citations
N/AReaders
Get full text

Cited by Powered by Scopus

Polymerase Epsilon-Associated Ultramutagenesis in Cancer

11Citations
N/AReaders
Get full text

An Extremely Rare Case of Prostate and Bladder Wall Involvement of Chronic Lymphocytic Leukemia

1Citations
N/AReaders
Get full text

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Cite

CITATION STYLE

APA

Steiner, M., Gassner, F. J., Parigger, T., Neureiter, D., Egle, A., Geisberger, R., … Zaborsky, N. (2021). A POLE splice site deletion detected in a patient with biclonal CLL and prostate cancer: A case report. International Journal of Molecular Sciences, 22(17). https://doi.org/10.3390/ijms22179410

Readers' Seniority

Tooltip

Professor / Associate Prof. 1

50%

PhD / Post grad / Masters / Doc 1

50%

Readers' Discipline

Tooltip

Agricultural and Biological Sciences 1

33%

Chemical Engineering 1

33%

Sports and Recreations 1

33%

Save time finding and organizing research with Mendeley

Sign up for free