Detection of the G17V RHOA Mutation in Angioimmunoblastic T-Cell Lymphoma and Related Lymphomas Using Quantitative Allele-Specific PCR

• DOI: 10.1371/journal.pone.0109714
• Publication Date: 2014-10-13T17:59:37Z
• Authors: Rie Nakamoto-Mats...; Mamiko Sakata-Yan...; 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 Ito; Issay Kitabayashi; Kengo Takeuchi; Naoya Nakamura; Seishi Ogawa; Shigeru Chiba
• Keywords: Angioimmunoblastic T-cell lymphoma; T-Cell Lymphoma

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