ArticleVirchows Archiv : an international journal of pathology2021
A report of a patient presenting with three metachronous 13q14LOH mesenchymal tumours: spindle cell lipoma, cellular angiofibroma and mammary myofibroblastoma.
Article in Virchows Archiv : an international journal of pathology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 5 citations in OpenAlex.
- Practical Approach to the Diagnosis of the Vulvo-Vaginal Stromal Tumors: An Overview.Diagnostics (Basel, Switzerland) · 2022Review
- Vaginal Cellular Angiofibroma: Report of a Rare Case with Literature Review.Journal of mid-life healthArticle
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8 authors at 4 institutions in 2 countries.
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Abstract
Spindle cell lipoma, cellular angiofibroma and mammary myofibroblastoma are mesenchymal tumours that have overlapping morphological and immunophenotypic features. Aberrations in chromosome 13q14 have been identified as a recurrent feature. We report a unique case of a 69-year-old woman who metachronously developed all three tumours. She developed a peri-urethral and a recurrent peri-vaginal cellular angiofibroma at age 54 and 57, respectively, a spindle cell lipoma at age 62 and a mammary myofibroblastoma at age 69. Dual-colour interphase fluorescent in situ hybridisation (FISH) revealed losses of RB1 and FOXO1 (13q14LOH [loss of heterozygosity]) within neoplastic cells. There was also loss of retinoblastoma (Rb) protein expression. To our knowledge, this is the first report of these three tumours arising in the same patient. The genetic link between these tumours supports the hypothesis that they may arise from the same progenitor cells. However, further research is required to elucidate the precise pathogenetic link.
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