t(1;14)(p35;q32) LAPTM5/IGH

2019-10-01   Jean Loup Huret 

1.jean-loup.huret@atlasgeneticsoncology.org

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

Bibliography

Pubmed IDLast YearTitleAuthors
289242432018Refined karyotype-based prognostic stratification of chronic lymphocytic leukemia with a low- and very-low-risk genetic profile.Giudice ID et al
128862552003Inactivation of the E3/LAPTm5 gene by chromosomal rearrangement and DNA methylation in human multiple myeloma.Hayami Y et al
290999512018TumorFusions: an integrative resource for cancer-associated transcript fusions.Hu X et al
270586222016Down-regulation of LAPTM5 in human cancer cells.Nuylan M et al
31080921987Chromosome studies in human hematologic diseases: non-Hodgkin's lymphomas.Slavutsky I et al
255005442015The 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