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.

• 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
• kazuistiky MeSH

Angiomyofibroblastoma (AMFB) is a benign tumor that belongs to the category of the "stromal tumors of the lower female genital tract," together with cellular angiofibroma and myofibroblastoma. Previous studies have shown overlapping morphologic and immunohistochemical features between these tumors and spindle cell lipoma, mammary-type myofibroblastoma, and vulvovaginal cellular angiofibroma and myofibroblastoma. In addition, typical loss of genetic material from the 13q14 region has been documented in all the above-mentioned tumors, suggesting that they are histogenetically related. We report the clinicopathologic features of 11 new cases of vulvovaginal AMFBs. Histologically, the basic common theme was a proliferation of bland-looking spindle to round-to-epithelioid cells set in an edematous to fibrous stroma, frequently arranged around thin-walled blood vessels. Two cases were composed of a prominent mature fatty component closely admixed with typical areas of AMFB, and thus, they were designated as "lipomatous AMFBs." Notably, 1 case was closely reminiscent of Sertoli cell tumor, sclerosing type, because of its predominant cord-like arrangement. Immunohistochemically, all tumors were diffusely positive for vimentin, whereas desmin and α-smooth muscle actin were expressed in a minority of cases, suggesting a fibroblastic rather than myofibroblastic differentiation. Most cases of AMFBs coexpressed Bcl-2 protein and CD99. Interestingly, all 5 cases of AMFB with evaluable signals failed to show monoallelic loss of FOXO1 loci (13q14) by fluorescence in situ hybridization. These cytogenetic findings suggest that vulvovaginal AMFB is not genetically related to cellular angiofibroma and myofibroblastoma of the lower female genital tract.

• MeSH
• angiofibrom genetika   metabolismus   patologie   MeSH
• CD antigeny genetika   metabolismus   MeSH
• chromozomální delece MeSH
• dospělí MeSH
• hybridizace in situ fluorescenční MeSH
• imunohistochemie MeSH
• lidé středního věku MeSH
• lidé MeSH
• lidské chromozomy, pár 13 MeSH
• mladý dospělý MeSH
• molekuly buněčné adheze genetika   metabolismus   MeSH
• nádory vaginy genetika   metabolismus   patologie   MeSH
• nádory vulvy genetika   metabolismus   patologie   MeSH
• nádory ze svalové tkáně genetika   metabolismus   patologie   MeSH
• protoonkogenní proteiny c-bcl-2 genetika   metabolismus   MeSH
• senioři MeSH
• vimentin genetika   metabolismus   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH