Genomic analysis of multiple myeloma using targeted capture sequencing in the Japanese cohort.
Br J Haematol
; 191(5): 755-763, 2020 12.
Article
en En
| MEDLINE
| ID: mdl-32386081
ABSTRACT
Previous genomic studies have revealed the genomic landscape of myeloma cells. Although some of the genomic abnormalities shown are believed to be correlated to the molecular pathogenesis of multiple myeloma and/or clinical outcome, these correlations are not fully understood. The aim of this study is to elucidate the correlation between genomic abnormalities and clinical characteristics by targeted capture sequencing in the Japanese multiple myeloma cohort. We analysed 154 patients with newly diagnosed multiple myeloma. The analysis revealed that the study cohort consisted of a less frequent hyperdiploid subtype (37·0%) with relatively high frequencies of KRAS mutation (36·4%) and IGH-CCND1 translocation (26·6%) compared with previous reports. Moreover, our targeted capture sequencing strategy was able to detect rare IGH-associated chromosomal translocations, such as IGH-CCND2 and IGH-MAFA. Interestingly, all 10 patients harboured MAX mutations accompanied by 14q23 deletion. The patients with del(17p) exhibited an unfavourable clinical outcome, and the presence of KRAS mutation was associated with shorter survival in patients with multiple myeloma, harbouring IGH-CCND1. Thus, our study provides a detailed landscape of genomic abnormalities, which may have potential clinical application for patients with multiple myeloma.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Par 14
/
Deleción Cromosómica
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Síndrome de Smith-Magenis
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Mieloma Múltiple
/
Proteínas de Neoplasias
Tipo de estudio:
Risk_factors_studies
Límite:
Adult
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Female
/
Humans
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Male
/
Middle aged
País/Región como asunto:
Asia
Idioma:
En
Revista:
Br J Haematol
Año:
2020
Tipo del documento:
Article
País de afiliación:
Japón