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A single change in a small signalling protein, found in about two thirds of one kind of T-cell lymphoma. It is useful because it is specific to the tumour cells, while the other mutations in the same disease are also present in normal blood cells.
RHOA is a small GTPase. The G17V substitution produces a protein that does not bind GTP and that also blocks the function of the normal copy, so it acts against the wild-type protein rather than simply being inactive.
It was reported in 68% of angioimmunoblastic T-cell lymphoma samples, and remarkably every case carrying it also carried a TET2 mutation; the RHOA mutation was found only in the tumour cells, while TET2 mutations were found in tumour and non-tumour haematopoietic cells alike, which places the TET2 lesion earlier, in the stem cell (Sakata-Yanagimoto 2014). An independent series found it in 22 of 35 angioimmunoblastic cases, 67%, and in 8 of 44 cases of peripheral T-cell lymphoma not otherwise specified, 18%, alongside recurrent TET2, DNMT3A and IDH2 mutations and less frequent FYN, ATM, B2M and CD58 lesions (Palomero 2014).
The ordering matters clinically as well as biologically: this is a lymphoma that grows out of clonal haematopoiesis, which is part of why it occurs in older people and why hypomethylating agents have activity in it.
In plain words · RHOA (Transforming protein RhoA) is an enzyme. The public catalogues list it as an oncogene driver, a tumour suppressor and a biomarker, and clinical evidence ties its variants to diagnosis, prognosis or drug response. Tied to Non-Hodgkin lymphoma, Gastric & gastro-oesophageal junction cancer, Bladder & urothelial cancer and 5 more.
This result supports the diagnosis when the biopsy is difficult to read, which it often is in this lymphoma. It does not yet select a licensed drug, although the related mutations in the same disease are the reason hypomethylating treatments are used and studied in it.
Written only from the label or guideline text cited on this page. Not medical advice; your own report and the reading your team gives it come first.
Targeted sequencing of RHOA codon 17 on tissue, reported as mutated or wild-type, usually within a T-cell lymphoma panel alongside TET2, DNMT3A and IDH2. Sensitivity matters because the tumour cells are often a minority of an angioimmunoblastic node, which is full of reactive B cells, plasma cells and vessels.
“Here we report somatic RHOA mutations encoding a p.Gly17Val alteration in 68% of AITL samples.”
Sakata-Yanagimoto et al., Nature Genetics 2014No approval uses this readout as a threshold. It is defined by Palomero et al., Nat Genet 2014: recurrent mutations in epigenetic regulators, RHOA and FYN in peripheral T-cell lymphoma.
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Shares Non-Hodgkin lymphoma (all types) and the tags biomarker, lymphoma.
Shares Non-Hodgkin lymphoma (all types) and the tags biomarker, lymphoma.
Shares Non-Hodgkin lymphoma (all types) and the tags biomarker, lymphoma.
Shares Non-Hodgkin lymphoma (all types) and the tags biomarker, lymphoma.
Shares Next-generation sequencing (NGS), Comprehensive genomic profiling, Non-Hodgkin lymphoma (all types) and the tags biomarker, lymphoma.