Detection of the G17V RHOA mutation in angioimmunoblastic T-Cell lymphoma and related lymphomas using quantitative allele-specific PCR

Rie Nakamoto-Matsubara, Mamiko Sakata-Yanagimoto, Terukazu Enami, Kenichi Yoshida, Shintaro Yanagimoto, Yusuke Shiozawa, Tohru Nanmoku, Kaishi Satomi, Hideharu Muto, Naoshi Obara, Takayasu Kato, Naoki Kurita, Yasuhisa Yokoyama, Koji Izutsu, Yasunori Ota, Masashi Sanada, Seiichi Shimizu, Takuya Komeno, Yuji Sato, Takayoshi ItoIssay Kitabayashi, Kengo Takeuchi, Naoya Nakamura, Seishi Ogawa, Shigeru Chiba

Research output: Contribution to journalArticlepeer-review

20 Citations (Scopus)

Abstract

Angioimmunoblastic T-cell lymphoma (AITL) and peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS) are subtypes of T-cell lymphoma. Due to low tumor cell content and substantial reactive cell infiltration, these lymphomas are sometimes mistaken for other types of lymphomas or even non-neoplastic diseases. In addition, a significant proportion of PTCL-NOS cases reportedly exhibit features of AITL (AITL-like PTCL-NOS). Thus disagreement is common in distinguishing between AITL and PTCL-NOS. Using whole-exome and subsequent targeted sequencing, we recently identified G17V RHOA mutations in 60-70% of AITL and AITL-like PTCL-NOS cases but not in other hematologic cancers, including other T-cell malignancies. Here, we establish a sensitive detection method for the G17V RHOA mutation using a quantitative allelespecific polymerase chain reaction (qAS-PCR) assay. Mutated allele frequencies deduced from this approach were highly correlated with those determined by deep sequencing. This method could serve as a novel diagnostic tool for 60-70% of AITL and AITL-like PTCL-NOS.

Original languageEnglish
Article numbere109714
JournalPloS one
Volume9
Issue number10
DOIs
Publication statusPublished - 13-10-2014
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • General

Fingerprint

Dive into the research topics of 'Detection of the G17V RHOA mutation in angioimmunoblastic T-Cell lymphoma and related lymphomas using quantitative allele-specific PCR'. Together they form a unique fingerprint.

Cite this