• Je něco špatně v tomto záznamu ?

A report of a patient presenting with three metachronous 13q14LOH mesenchymal tumours: spindle cell lipoma, cellular angiofibroma and mammary myofibroblastoma

A. Cordaro, HR. Haynes, T. Murigu, M. Michal, F. Maggiani, D. Poyiatzis, A. Palmer, Z. Melegh

. 2021 ; 479 (3) : 631-635. [pub] 20210103

Jazyk angličtina Země Německo

Typ dokumentu kazuistiky

Perzistentní odkaz   https://www.medvik.cz/link/bmc22003868
E-zdroje Online Plný text

NLK ProQuest Central od 2003-01-01 do Před 1 rokem
Medline Complete (EBSCOhost) od 2011-01-01 do Před 1 rokem
Nursing & Allied Health Database (ProQuest) od 2003-01-01 do Před 1 rokem
Health & Medicine (ProQuest) od 2003-01-01 do Před 1 rokem

Odkazy

PubMed 33392798
DOI 10.1007/s00428-020-02999-y
Knihovny.cz E-zdroje

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.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc22003868
003      
CZ-PrNML
005      
20220127145759.0
007      
ta
008      
220113s2021 gw f 000 0|eng||
009      
AR
024    7_
$a 10.1007/s00428-020-02999-y $2 doi
035    __
$a (PubMed)33392798
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a gw
100    1_
$a Cordaro, Andrea $u Welsh Institute of Dermatology, University Hospital of Wales, Cardiff, UK. ac12370@my.bristol.ac.uk
245    12
$a A report of a patient presenting with three metachronous 13q14LOH mesenchymal tumours: spindle cell lipoma, cellular angiofibroma and mammary myofibroblastoma / $c A. Cordaro, HR. Haynes, T. Murigu, M. Michal, F. Maggiani, D. Poyiatzis, A. Palmer, Z. Melegh
520    9_
$a 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.
650    _2
$a senioři $7 D000368
650    _2
$a angiofibrom $x genetika $x patologie $7 D018322
650    _2
$a nádorové biomarkery $x genetika $7 D014408
650    _2
$a nádory prsu $x genetika $x patologie $7 D001943
650    12
$a lidské chromozomy, pár 14 $7 D002883
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a forkhead box protein O1 $x genetika $7 D000071161
650    _2
$a genetická predispozice k nemoci $7 D020022
650    _2
$a lidé $7 D006801
650    _2
$a hybridizace in situ fluorescenční $7 D017404
650    _2
$a lipom $x genetika $x patologie $7 D008067
650    12
$a ztráta heterozygozity $7 D019656
650    _2
$a nádory ze svalové tkáně $x genetika $x patologie $7 D009379
650    _2
$a sekundární malignity $x genetika $x patologie $7 D016609
650    _2
$a fenotyp $7 D010641
650    _2
$a vazebné proteiny retinoblastomu $x genetika $7 D056286
650    _2
$a ubikvitinligasy $x genetika $7 D044767
650    _2
$a nádory močové trubice $x genetika $x patologie $7 D014523
650    _2
$a nádory vaginy $x genetika $x patologie $7 D014625
655    _2
$a kazuistiky $7 D002363
700    1_
$a Haynes, Harry R $u Great Western Hospital and Department of Translational Health Sciences, University of Bristol, Bristol, UK
700    1_
$a Murigu, Timothy $u Department of Cellular Pathology, North Bristol NHS Trust, Bristol, UK
700    1_
$a Michal, Michael $u Department of Pathology, Faculty of Medicine in Plzen, Charles University, Prague, Czech Republic $u Bioptical Laboratory, Ltd., Plzeň, Czech Republic
700    1_
$a Maggiani, Francesca $u Department of Cellular Pathology, North Bristol NHS Trust, Bristol, UK
700    1_
$a Poyiatzis, Demetris $u Department of Cellular Pathology, North Bristol NHS Trust, Bristol, UK
700    1_
$a Palmer, Abigail $u Bristol Genetics Department, North Bristol NHS Trust, Bristol, UK
700    1_
$a Melegh, Zsombor $u Department of Cellular Pathology, North Bristol NHS Trust, Bristol, UK
773    0_
$w MED00004660 $t Virchows Archiv : an international journal of pathology $x 1432-2307 $g Roč. 479, č. 3 (2021), s. 631-635
856    41
$u https://pubmed.ncbi.nlm.nih.gov/33392798 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y p $z 0
990    __
$a 20220113 $b ABA008
991    __
$a 20220127145755 $b ABA008
999    __
$a ok $b bmc $g 1751360 $s 1155017
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2021 $b 479 $c 3 $d 631-635 $e 20210103 $i 1432-2307 $m Virchows Archiv $n Virchows Arch $x MED00004660
LZP    __
$a Pubmed-20220113

Najít záznam

Citační ukazatele

Možnosti archivace