Title |
Rare double-hit with two translocations involving IGH both, with BCL2 and BCL3, in a monoclonal B-cell lymphoma/leukemia
|
---|---|
Published in |
Molecular Cytogenetics, December 2015
|
DOI | 10.1186/s13039-015-0203-y |
Pubmed ID | |
Authors |
Roman Alpatov, Billie Carstens, Kimberly Harding, Carolyn Jarrett, Sudabeh Balakhani, Jessica Lincoln, Peter Brzeskiewicz, Yu Guo, Alex Ohene-Mobley, Jamie LeRoux, Veronica McDaniel, Lynne Meltesen, Diane Minka, Mahendra Patel, Cyrus Manavi, Karen Swisshelm |
Abstract |
Chronic Lymphocytic Leukemia (CLL) is a lymphoproliferative disease characterized by multiple recurring clonal cytogenetic anomalies and is the most common leukemia in adults. Chromosomal abnormalities associated with CLL include trisomy 12 and IGH;BCL3 rearrangement [t(14;19)(q32;q13)] that juxtaposes a proto-oncogenic gene BCL3 and an immunoglobulin heavy chain, a translocation that may be associated with shorter survival. In addition to the IGH;BCL3 rearrangement, other translocations involving 14q32 locus are involved in various lymphoproliferative pathologies pointing toward the significance of IGH locus in oncogenic progression. Significantly, in the majority of B-cell neoplasms that carry an IGH;BCL3 rearrangement, it is a sole translocation involving an IGH locus. We report a patient who, in addition to trisomy 12, carried a rare double-hit translocation characterized by the IGH;BCL3 translocation and an additional clonal IGH;BCL2 translocation involving IGH and another proto-oncogene BCL2, t(14;18)(q32;q21), commonly found in follicular lymphoma. Further single nucleotide polymorphism (SNP) array-based analysis detected a duplication of the 58.8 kb region at 19q13.32 adjacent to the BCL3 translocation junction on chromosome 19q13. Interestingly, the duplicated region contained ERCC2 gene, which encodes a DNA excision repair protein involved in the cancer-prone syndrome, xeroderma pigmentosum. Taken together our findings indicate the existence of double-translocation driven oncogenic events involving both IGH loci and proto-oncogenes BCL2 and BCL3. Importantly, the IGH;BCL3 translocation was characterized by the duplication of the genomic region adjacent to BCL3, containing a major DNA repair factor, ERCC2. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 14 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 2 | 14% |
Researcher | 2 | 14% |
Student > Bachelor | 1 | 7% |
Professor | 1 | 7% |
Student > Doctoral Student | 1 | 7% |
Other | 4 | 29% |
Unknown | 3 | 21% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 7 | 50% |
Biochemistry, Genetics and Molecular Biology | 3 | 21% |
Agricultural and Biological Sciences | 1 | 7% |
Unknown | 3 | 21% |