Abstract
Review on t(1;14)(p35;q32), with data on clinics, and the genes involved.
Clinics and Pathology
Disease
Mature B-cell neoplasms
Epidemiology
A t(1;14)(p35;q32) LAPTM5/IGH was found in a multiple myeloma cell line (Hayami et al., 2003). Two other cases of t(1;14)(p35;q32), but without gene assessment were described: a male patient, with Binet stage 1 chronic lymphocytic leukemia (CLL), and with mutated NOTCH1 (Giudice et al., 2018), and a female aged 55-year old female patient with follicular lymphoma (Slavutsky et al., 1987).
Note
To be noted concerning 1p35/14q32 fusions is that a PHC2 (1p35.1) / HSP90AA1 (14q32.31) fusion was found in prostate cancer (Yoshihara et al., 2015) and a PPP2R5C (14q32.31) / CCDC28B (1p35.2) fusion in hepatocellular carcinoma (Hu et al., 2018), data extracted from http://atlasgeneticsoncology.org/Bands/1p35.html .
Genes Involved and Proteins
Gene name
LAPTM5 (lysosomal protein transmembrane 5)
Location
1p35.2
Protein description
262 amino acids, contains 5 trans-membrane helices. Membrane protein that localizes to intracellular vesicles, lysosomes in particular. LAPTM5 may play an important role as a negative regulator of T cell or B cell receptor-mediated signaling. Overexpression of LAPTM5 induces lysosomal cell death. LAPTM5 transcription is often decreased in various types of cancer cell lines, in non-small cell lung cancer and esophageal squamous cell carcinoma tumors. Low expression is associated with poor prognosis. LAPTM5 functions as a tumor suppressor (Nuylan et al., 2016).
Gene name
IGH (Immunoglobulin Heavy)
Location
14q32.33
Result of the Chromosomal Anomaly
Description
The rearrangement occurred between the switch region of IGH and the first intron of LAPTM5. LAPTM5 was interrupted within its coding region and was not expressed (Hayami et al., 2003).
Oncogenesis
Inactivation of LAPTM5
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 28924243 | 2018 | Refined karyotype-based prognostic stratification of chronic lymphocytic leukemia with a low- and very-low-risk genetic profile. | Giudice ID et al |
| 12886255 | 2003 | Inactivation of the E3/LAPTm5 gene by chromosomal rearrangement and DNA methylation in human multiple myeloma. | Hayami Y et al |
| 29099951 | 2018 | TumorFusions: an integrative resource for cancer-associated transcript fusions. | Hu X et al |
| 27058622 | 2016 | Down-regulation of LAPTM5 in human cancer cells. | Nuylan M et al |
| 3108092 | 1987 | Chromosome studies in human hematologic diseases: non-Hodgkin's lymphomas. | Slavutsky I et al |
| 25500544 | 2015 | The landscape and therapeutic relevance of cancer-associated transcript fusions. | Yoshihara K et al |
Summary
Fusion gene
LAPTM5/IGH
Citation
Jean Loup Huret
t(1;14)(p35;q32) LAPTM5/IGH
Atlas Genet Cytogenet Oncol Haematol. 2019-10-01
Online version: http://atlasgeneticsoncology.org/haematological/1486/t(1;14)(p35;q32)-laptm5-igh
