A report of a patient presenting with three metachronous 13q14LOH mesenchymal tumours: spindle cell lipoma, cellular angiofibroma and mammary myofibroblastoma
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F21%3A10438898" target="_blank" >RIV/00216208:11140/21:10438898 - isvavai.cz</a>
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=RRbaKjKaM3" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=RRbaKjKaM3</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1007/s00428-020-02999-y" target="_blank" >10.1007/s00428-020-02999-y</a>
Alternative languages
Result language
angličtina
Original language name
A report of a patient presenting with three metachronous 13q14LOH mesenchymal tumours: spindle cell lipoma, cellular angiofibroma and mammary myofibroblastoma
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30109 - Pathology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Virchows Archiv
ISSN
0945-6317
e-ISSN
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Volume of the periodical
479
Issue of the periodical within the volume
3
Country of publishing house
DE - GERMANY
Number of pages
5
Pages from-to
631-635
UT code for WoS article
000604452100002
EID of the result in the Scopus database
2-s2.0-85098593605