TY - JOUR
T1 - Detection of the G17V RHOA mutation in angioimmunoblastic T-Cell lymphoma and related lymphomas using quantitative allele-specific PCR
AU - Nakamoto-Matsubara, Rie
AU - Sakata-Yanagimoto, Mamiko
AU - Enami, Terukazu
AU - Yoshida, Kenichi
AU - Yanagimoto, Shintaro
AU - Shiozawa, Yusuke
AU - Nanmoku, Tohru
AU - Satomi, Kaishi
AU - Muto, Hideharu
AU - Obara, Naoshi
AU - Kato, Takayasu
AU - Kurita, Naoki
AU - Yokoyama, Yasuhisa
AU - Izutsu, Koji
AU - Ota, Yasunori
AU - Sanada, Masashi
AU - Shimizu, Seiichi
AU - Komeno, Takuya
AU - Sato, Yuji
AU - Ito, Takayoshi
AU - Kitabayashi, Issay
AU - Takeuchi, Kengo
AU - Nakamura, Naoya
AU - Ogawa, Seishi
AU - Chiba, Shigeru
N1 - Publisher Copyright:
© 2014 Nakamoto-Matsubara et al.
PY - 2014/10/13
Y1 - 2014/10/13
N2 - 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.
AB - 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.
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U2 - 10.1371/journal.pone.0109714
DO - 10.1371/journal.pone.0109714
M3 - Article
C2 - 25310466
AN - SCOPUS:84907943788
SN - 1932-6203
VL - 9
JO - PloS one
JF - PloS one
IS - 10
M1 - e109714
ER -