A report of a patient presenting with three metachronous 13q14LOH mesenchymal tumours: spindle cell lipoma, cellular angiofibroma and mammary myofibroblastoma
Jazyk angličtina Země Německo Médium print-electronic
Typ dokumentu kazuistiky, časopisecké články
PubMed
33392798
DOI
10.1007/s00428-020-02999-y
PII: 10.1007/s00428-020-02999-y
Knihovny.cz E-zdroje
- 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
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.
Bioptical Laboratory Ltd Plzeň Czech Republic
Bristol Genetics Department North Bristol NHS Trust Bristol UK
Department of Cellular Pathology North Bristol NHS Trust Bristol UK
Department of Pathology Faculty of Medicine in Plzen Charles University Prague Czech Republic
Welsh Institute of Dermatology University Hospital of Wales Cardiff UK
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Maggiani F, Debiec-Rychter M, Vanbockrijck M, Sciot R (2007) Cellular angiofibroma: another mesenchymal tumour with 13q14 involvement, suggesting a link with spindle cell lipoma and (extra)-mammary myofibroblastoma. Histopathology. 51(3):410–412 DOI
Chen BJ, Mariño-Enríquez A, Fletcher CD, Hornick JL (2012) Loss of retinoblastoma protein expression in spindle cell/pleomorphic lipomas and cytogenetically related tumors: an immunohistochemical study with diagnostic implications. Am J Surg Pathol 36(8):1119–1128 DOI
Fritchie KJ, Carver P, Sun Y, Batiouchko G, Billings SD, Rubin BP, Tubbs RR, Goldblum JR (2012) Solitary fibrous tumor: is there a molecular relationship with cellular angiofibroma, spindle cell lipoma, and mammary-type myofibroblastoma? Am J Clin Pathol 137(6):963–970 DOI
Uehara K, Ikehara F, Shibuya R, Nakazato I, Oshiro M, Kiyuna M, Tanabe Y, Toyoda Z, Kurima K, Kina S, Hisaoka M, Kinjo T (2018) Molecular signature of tumors with monoallelic 13q14 deletion: a case series of spindle cell Lipoma and genetically-related tumors demonstrating a link between FOXO1 status and p38 MAPK pathway. Pathol Oncol Res 24(4):861–869 DOI
Bartuma H, Nord KH, Macchia G, Isaksson M, Nilsson J, Domanski HA, Mandahl N, Mertens F (2011) Gene expression and single nucleotide polymorphism array analyses of spindle cell lipomas and conventional lipomas with 13q14 deletion. Genes Chromosom Cancer 50(8):619–632 DOI
Kim DH, Lee YB, Kim JW, Yu DS (2015) A rare case of multiple spindle cell lipomas. Ann Dermatol 27(4):472–473 DOI
Mehregan DR, Mehregan DA, Mehregan AH, Dorman MA, Cohen E (1995) Spindle cell lipomas. A report of two cases: one with multiple lesions. Dermatol Surg 21(9):796–798 DOI
Kaku N, Kashima K, Daa T, Nakayama I, Kerakawauchi H, Hashimoto H et al (2003) Multiple spindle cell lipomas of the tongue: report of a case. APMIS. 111(5):581–585 DOI
Fanburg-Smith JC, Devaney KO, Miettinen M, Weiss SW (1998) Multiple spindle cell lipomas: a report of 7 familial and 11 nonfamilial cases. Am J Surg Pathol 22(1):40–48 DOI
Hamele-Bena D, Cranor ML, Sciotto C, Erlandson R, Rosen PP (1996) Uncommon presentation of mammary myofibroblastoma. Mod Pathol 9(7):786–790 PubMed
Viswanathan K, Cheng E, Linver MN, Feddersen R, Hoda S (2018) Bilateral multiple mammary myofibroblastomas in an adult male. Int J Surg Pathol 26(3):242–244 DOI
Lee S, Choi HJ (2016) Double para-testicular cellular angiofibroma and synchronous testicular microlithiasis. J Pathol Transl Med 50(1):75–77 DOI
Genuardi M, Klutz M, Devriendt K, Caruso D, Stirpe M, Lohmann DR (2001) Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma. Eur J Hum Genet 9(9):690–694 DOI
Dereure O, Savoy D, Doz F, Junien C, Guilhou JJ (2000) Multiple acral fibromas in a patient with familial retinoblastoma: a cutaneous marker of tumour-suppressor gene germline mutation? Br J Dermatol 143(4):856–859 DOI
Dusenbery AC, Davick JJ, LeGallo RD, Williams ES (2020) Chromosomal microarray analysis of benign mesenchymal tumors with RB1 deletion. Hum Pathol 102:88–93 DOI