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

Written2019-10Jean Loup Huret
jean-loup.huret@atlasgeneticsoncology.org

Abstract Review on t(1;14)(p35;q32), with data on clinics, and the genes involved.

Keywords Chromosome 1; chromosome 14; LAPTM5; IGH; Mature B-cell neoplasms

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424
ICD-Morpho 9732/3 Plasma cell myeloma / Multiple myeloma
ICD-Morpho 9823/3 Chronic lymphocytic leukaemia /small lymphocytic lymphoma
ICD-Morpho 9690/3 Follicular lymphoma; Paediatric follicular lymphoma
Atlas_Id 1486

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).

Genetics

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 NameLAPTM5 (lysosomal protein transmembrane 5)
Location 1p35.2
Protein 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 NameIGH (Immunoglobulin Heavy)
Location 14q32.33

Result of the chromosomal anomaly

Hybrid gene
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).
  
Fusion Protein
Oncogenesis Inactivation of LAPTM5
  

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

Refined karyotype-based prognostic stratification of chronic lymphocytic leukemia with a low- and very-low-risk genetic profile
Giudice ID, Rigolin GM, Raponi S, Cafforio L, Ilari C, Wang J, Bordyuh M, Piciocchi A, Marinelli M, Nanni M, Tavolaro S, Filetti M, Bardi A, Tammiso E, Volta E, Negrini M, Saccenti E, Mauro FR, Rossi D, Gaidano G, Guarini A, Rabadan R, Cuneo A, Foà R
Leukemia 2018 Feb;32(2):543-546
PMID 28924243
 
Inactivation of the E3/LAPTm5 gene by chromosomal rearrangement and DNA methylation in human multiple myeloma
Hayami Y, Iida S, Nakazawa N, Hanamura I, Kato M, Komatsu H, Miura I, Dave BJ, Sanger WG, Lim B, Taniwaki M, Ueda R
Leukemia 2003 Aug;17(8):1650-7
PMID 12886255
 
TumorFusions: an integrative resource for cancer-associated transcript fusions
Hu X, Wang Q, Tang M, Barthel F, Amin S, Yoshihara K, Lang FM, Martinez-Ledesma E, Lee SH, Zheng S, Verhaak RGW
Nucleic Acids Res 2018 Jan 4;46(D1):D1144-D1149
PMID 29099951
 
Down-regulation of LAPTM5 in human cancer cells
Nuylan M, Kawano T, Inazawa J, Inoue J
Oncotarget 2016 May 10;7(19):28320-8
PMID 27058622
 
Chromosome studies in human hematologic diseases: non-Hodgkin's lymphomas
Slavutsky I, Labal de Vinuesa M, Estévez ME, Sen L, Dupont J, Larripa I
Haematologica 1987 Jan-Feb;72(1):29-37
PMID 3108092
 
The landscape and therapeutic relevance of cancer-associated transcript fusions
Yoshihara K, Wang Q, Torres-Garcia W, Zheng S, Vegesna R, Kim H, Verhaak RG
Oncogene 2015 Sep 10;34(37):4845-54
PMID 25500544
 

Citation

This paper should be referenced as such :
Jean Loup Huret
t(1;14)(p35;q32) LAPTM5/IGH
Atlas Genet Cytogenet Oncol Haematol. 2020;24(8):313-314.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0114p35q32LAPTM5-IGHID1486.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(1;14)(p35;q32) LAPTM5/IGH


External links

Mitelman databaset(1;14)(p35;q32)
arrayMap (UZH-SIB Zurich)Morph ( 9732/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9823/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Morph ( 9690/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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