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.
- Klíčová slova
- Cellular angiofibroma, FISH, Fluorescence in situ hybridisation, Mammary myofibroblastoma, RB1, Spindle cell lipoma,
- MeSH
- angiofibrom genetika patologie MeSH
- fenotyp MeSH
- forkhead box protein O1 genetika MeSH
- genetická predispozice k nemoci MeSH
- hybridizace in situ fluorescenční MeSH
- lidé MeSH
- lidské chromozomy, pár 14 * MeSH
- lipom genetika patologie MeSH
- nádorové biomarkery genetika MeSH
- nádory močové trubice genetika patologie MeSH
- nádory prsu genetika patologie MeSH
- nádory vaginy genetika patologie MeSH
- nádory ze svalové tkáně genetika patologie MeSH
- sekundární malignity genetika patologie MeSH
- senioři MeSH
- ubikvitinligasy genetika MeSH
- vazebné proteiny retinoblastomu genetika MeSH
- ztráta heterozygozity * MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Názvy látek
- forkhead box protein O1 MeSH
- FOXO1 protein, human MeSH Prohlížeč
- nádorové biomarkery MeSH
- RB1 protein, human MeSH Prohlížeč
- ubikvitinligasy MeSH
- vazebné proteiny retinoblastomu MeSH