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 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.
Highlights
Based on the classification proposed by the World Health Organization (WHO), Angioimmunoblastic T-cell lymphoma (AITL) is a distinct subtype of T-cell lymphoma that accounts for 20% of peripheral T-cell lymphoma cases [1]
The results of qASPCR analysis described here are correlated well with those derived from deep sequencing (Table 4), while quantitative allelespecific polymerase chain reaction (qAS-PCR) is superior to deep sequencing in terms of the cost and convenience
We show here that even DNA samples subjected to whole-genome amplification or low quality/concentration DNA extracted from FFPE samples can serve as reliable material for our qAS-PCR method, if appropriate PCR procedure and primers are used
Summary
Based on the classification proposed by the World Health Organization (WHO), Angioimmunoblastic T-cell lymphoma (AITL) is a distinct subtype of T-cell lymphoma that accounts for 20% of peripheral T-cell lymphoma cases [1]. AITL is characterized by generalized lymphadenopathy, hyperglobulinemia, and autoimmune-like manifestations [1,2]. Pathologic examination of AITL tumors reveals polymorphous infiltration of reactive cells, including endothelial venules and follicular dendritic cells [3,4]. Based on gene expression profiling and immunohistochemical staining, the normal counterparts of AITL tumor cells are proposed to be follicular helper T cells (TFHs) [5]. Some PTCL-NOS cases share features of AITL, such as immunohistochemical staining patterns resembling those seen in AITL (AITL-like PTCL-NOS) [6]
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