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

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

来源：PLos One, 2014, 9(10): e109714.

DOI：10.1371/journal.pone.0109714

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 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 method could serve as a novel diagnostic tool for 60-70% of AITL and AITL-like PTCL-NOS.

• 出版日期2014-10-13
• 单位河北医科大学