A Novel Cryptic t(2;3)(p21;q25) Translocation Fuses the WWTR1 and PRKCE Genes in Uterine Leiomyoma With 3q- as the Sole Visible Chromosome Abnormality.
Cancer Genomics Proteomics
; 19(5): 636-646, 2022.
Article
en En
| MEDLINE
| ID: mdl-35985686
ABSTRACT
BACKGROUND/AIM:
Deletions in the q arm of chromosome 3 have been reported in uterine leiomyomas, also as sole anomalies. Because some neoplasia-associated deletions may give rise to tumorigenic fusion genes, we chose to investigate thoroughly one such tumor. MATERIALS ANDMETHODS:
A uterine leiomyoma obtained from a 45-year-old woman had the karyotype 46,XX,del(3)(q?)[11]. The tumor was further studied using array comparative genomic hybridization, RNA sequencing, reverse transcription polymerase chain reaction, Sanger sequencing, and fluorescence in situ hybridization methodologies.RESULTS:
The deletion was shown to be from 3q22.2 to 3q26.32. Unexpectedly, a cryptic balanced t(2;3)(p21;q25) translocation was also found affecting two otherwise normal chromosomes 2 and 3, i.e., the der(3)t(2;3) was not the deleted chromosome 3. The translocation generated two chimeras between the genes WW domain containing transcription regulator 1 (WWTR1) from 3q25.1 and protein kinase C epsilon (PRKCE) from 2p21. The WWTR1PRKCE fusion would code for a chimeric serine/threonine kinase, whereas the reciprocal PRKCEWWTR1 fusion would code for a chimeric transcriptional coactivator protein.CONCLUSION:
Leiomyomas carrying a deletion on 3q may also have a balanced t(2;3)(p21;q25) leading to fusion of WWTR1 with PRKCE.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Proteína Quinasa C-epsilon
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Leiomioma
Límite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
Cancer Genomics Proteomics
Asunto de la revista:
BIOQUIMICA
/
GENETICA MEDICA
/
NEOPLASIAS
Año:
2022
Tipo del documento:
Article