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Virchows Arch ; 479(3): 631-635, 2021 Sep.
Article in English | MEDLINE | ID: mdl-33392798

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.


Subject(s)
Angiofibroma/genetics , Biomarkers, Tumor/genetics , Breast Neoplasms/genetics , Chromosomes, Human, Pair 14 , Lipoma/genetics , Loss of Heterozygosity , Neoplasms, Muscle Tissue/genetics , Neoplasms, Second Primary/genetics , Urethral Neoplasms/genetics , Vaginal Neoplasms/genetics , Aged , Angiofibroma/pathology , Breast Neoplasms/pathology , Female , Forkhead Box Protein O1/genetics , Genetic Predisposition to Disease , Humans , In Situ Hybridization, Fluorescence , Lipoma/pathology , Neoplasms, Muscle Tissue/pathology , Neoplasms, Second Primary/pathology , Phenotype , Retinoblastoma Binding Proteins/genetics , Ubiquitin-Protein Ligases/genetics , Urethral Neoplasms/pathology , Vaginal Neoplasms/pathology
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