Early detection of T-cell lymphoma with T follicular helper phenotype by RHOA mutation analysis

Autor: Rachel Dobson, Peter Y. Du, Lívia Rásó-Barnett, Wen-Qing Yao, Zi Chen, Calogero Casa, Hesham EI-Daly, Lorant Farkas, Elizabeth Soilleux, Penny Wright, John W. Grant, Manuel Rodriguez-Justo, George A. Follows, Hala Rashed, Margarete Fabre, E. Joanna Baxter, George Vassiliou, Andrew Wotherspoon, Ayoma D. Attygalle, Hongxiang Liu, Ming-Qing Du
Jazyk: angličtina
Rok vydání: 2021
Předmět:
Zdroj: Haematologica, Vol 107, Iss 2 (2021)
Druh dokumentu: article
ISSN: 0390-6078
1592-8721
DOI: 10.3324/haematol.2020.265991
Popis: Angioimmunoblastic T-cell lymphoma (AITL) and peripheral T-cell lymphoma with T follicular helper phenotype (PTCL-TFH) are a group of complex clinicopathological entities that originate from T follicular helper cells and share a similar mutation profile. Their diagnosis is often a challenge, particularly at an early stage, because of a lack of specific histological and immunophenotypic features, paucity of neoplastic T cells and prominent polymorphous infiltrate. We investigated whether the lymphoma-associated RHOA Gly17Val (c.50G>T) mutation, occurring in 60% of cases, is present in the early “reactive” lesions, and whether mutation analysis could help to advance the early diagnosis of lymphoma. The RHOA mutation was detected by quantitative polymerase chain reaction with a locked nucleic acid probe specific to the mutation, and a further peptide nucleic acid clamp oligonucleotide to suppress the amplification of the wild-type allele. The quantitative polymerase chain reaction assay was highly sensitive and specific, detecting RHOA Gly17Val at an allele frequency of 0.03%, but not other changes in Gly17, nor in 61 controls. Among the 37 cases of AITL and PTCL-TFH investigated, RHOA Gly17Val was detected in 62.2% (23/37) of which 19 had multiple biopsies including preceding biopsies in ten and follow-up biopsies in 11 cases. RHOA Gly17Val was present in each of these preceding or follow-up biopsies including 18 specimens that showed no evidence of lymphoma by combined histological, immunophenotypic and clonality analyses. The mutation was seen in biopsies 0-26.5 months (mean 7.87 months) prior to the lymphoma diagnosis. Our results show that RHOA Gly17Val mutation analysis is valuable in the early detection of AITL and PTCL-TFH.
Databáze: Directory of Open Access Journals
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