Adult T-cell leukemia/lymphoma with angioimmunoblastic T-cell lymphoma-like feature and molecularly confirmed RHOA Gly 17 Val (G17V) mutation: A case report

Pathol Int. 2024 Nov;74(11):641-647. doi: 10.1111/pin.13477. Epub 2024 Aug 30.

Abstract

We report a case of adult T-cell leukemia/lymphoma (ATLL) with angioimmunoblastic T-cell lymphoma (AITL/nTFHL-AI)-like feature. An 88-year-old Japanese woman with seropositive for the Human T-lymphotropic virus type 1 (HTLV-1) was incidentally diagnosed with generalized lymphadenopathy. Biopsy of the cervical lymph node demonstrated the proliferation of small- or medium-sized and large atypical lymphocytes associated with eosinophils, high endothelial venules, and clear cells. Immunohistochemical analysis revealed atypical lymphocytes were CD3- and CD4-positive. Atypical T cells bore the T-follicular helper phenotype (PD1, ICOS, and BCL6) and were positive for CD25 and chemokine receptor 4. Epstein-Barr virus encoded RNA-positive cells were scattered in the background via in situ hybridization. The histological findings were similar to those of AITL/nTFHL-AI; however, the immunohistochemical results did not exclude the possibility of ATLL. Southern blot analysis detected integration of HTLV-1 proviral DNA. The RHOA Gly 17 Val (G17V) mutation was detected by the peptide nucleic acid-locked nucleic acid clamp method. Finally, the patient was diagnosed with ATLL with AITL-like feature and exhibited a similar morphology, immunophenotype, and mutational signature to AITL/nTFHL-AI. ATLL mimics other types of T-cell lymphomas. Thus, in HTLV-1 endemic areas, routine screening for HTLV-1 serology is necessary to avoid misdiagnosis of other lymphoid malignancies.

Keywords: AITL; ATLL; HTLV‐1; RHOA.

Publication types

  • Case Reports

MeSH terms

  • Aged, 80 and over
  • Female
  • Human T-lymphotropic virus 1 / genetics
  • Humans
  • Immunoblastic Lymphadenopathy* / diagnosis
  • Immunoblastic Lymphadenopathy* / genetics
  • Immunoblastic Lymphadenopathy* / pathology
  • Leukemia-Lymphoma, Adult T-Cell* / diagnosis
  • Leukemia-Lymphoma, Adult T-Cell* / genetics
  • Leukemia-Lymphoma, Adult T-Cell* / pathology
  • Lymphoma, T-Cell / diagnosis
  • Lymphoma, T-Cell / genetics
  • Lymphoma, T-Cell / pathology
  • Mutation*
  • rhoA GTP-Binding Protein* / genetics

Substances

  • rhoA GTP-Binding Protein
  • RHOA protein, human