Molecular and Immunohistochemical Characteristics of Primary Vaginal Leiomyosarcoma: Case Report and Review of the Literature.
Chantal Durgana, James Grenert, Cynthia Gasper
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Case in brief
A 46-year-old patient had a primary leiomyosarcoma arising in the vaginal wall, with no uterine or cervical involvement. The tumor comprised atypical spindle cells and showed tumor-type necrosis and 25 mitotic figures per 10 high-power fields. Immunohistochemistry supported smooth-muscle differentiation and showed a p53-null pattern with loss of ATRX and Rb. Sequencing identified ATRX and PTEN mutations, homozygous RB1 deletions, and deep deletions in TP53 and NCOR1. High-risk HPV E6/E7 mRNA in situ hybridization was negative.
What made this case unusual
The tumor combined alterations involving ATRX, PTEN, RB1, TP53, and NCOR1 with negative high-risk HPV testing, illustrating molecular findings in a vaginal leiomyosarcoma without evidence of the HPV-associated pathway discussed in the report.
Diagnostic / clinical pearl
For a vaginal spindle-cell malignancy, establish the primary site by assessing uterine and cervical involvement, and integrate morphology, smooth-muscle immunostains, and molecular findings to support leiomyosarcoma.