-
Je něco špatně v tomto záznamu ?
S100 and CD34 positive spindle cell tumor with prominent perivascular hyalinization and a novel NCOA4-RET fusion
M. Michal, N. Ptáková, P. Martínek, Z. Gatalica, DV. Kazakov, K. Michalová, L. Stoláriková, M. Švajdler, M. Michal,
Jazyk angličtina Země Spojené státy americké
Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem
PubMed
30938880
DOI
10.1002/gcc.22758
Knihovny.cz E-zdroje
- MeSH
- antigeny CD34 genetika metabolismus MeSH
- dospělí MeSH
- hyalin metabolismus MeSH
- koaktivátory jaderných receptorů genetika metabolismus MeSH
- lidé MeSH
- mutace MeSH
- nádory měkkých tkání genetika patologie MeSH
- neurofibromin 1 genetika MeSH
- onkogenní fúze * MeSH
- proteiny S100 genetika metabolismus MeSH
- protoonkogenní proteiny c-ret genetika metabolismus MeSH
- škára metabolismus patologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- práce podpořená grantem MeSH
We report a case of a 35-year old male patient with a tumor located in the deep dermis on his forearm. The lesion was completely excised but recurred 4 years later. The patient showed no signs of neurofibromatosis type 1. The morphology and immunophenotype of the tumor corresponded to the recently characterized group of soft tissue spindle cell lesions defined by a relatively uniform cytomorphology, patternless architecture, conspicuous stromal and perivascular hyalinization, S100 and CD34 coexpression and recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes. Using a 592-gene panel and massively parallel next-generation sequencing platform, we initially detected only NF1 gene mutation in our case. However, further molecular testing with Archer fusion assay revealed a novel NCOA4-RET gene fusion, adding it to the list of multiple kinase fusions originally reported in these tumors. Although break-apart FISH showed false negative result due to the presence of intrachromosomal rearrangement, RT-PCR confirmed the fusion transcript. Knowing the exact fusion is of great clinical importance especially for patients within the aggressive subset of these neoplasms that could be treated with selective kinase inhibitors. The presented case underscores the benefits of massively parallel sequencing as the types and number of gene fusions these tumors can potentially harbor render single-gene assays such as FISH impractical, and in this particular case, also insensitive.
CMI Caris Life Sciences Phoenix Arizona
Department of Pathology and Molecular Genetics Bioptical Laboratory Ltd Pilsen Czech Republic
Citace poskytuje Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc20006490
- 003
- CZ-PrNML
- 005
- 20200521090535.0
- 007
- ta
- 008
- 200511s2019 xxu f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1002/gcc.22758 $2 doi
- 035 __
- $a (PubMed)30938880
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Michal, Michael $u Department of Pathology, Charles University, Faculty of Medicine in Pilsen, Pilsen, Czech Republic. Biomedical Center, Charles University, Faculty of Medicine in Pilsen, Pilsen, Czech Republic. Department of Pathology and Molecular Genetics, Bioptical Laboratory, Ltd., Pilsen, Czech Republic.
- 245 10
- $a S100 and CD34 positive spindle cell tumor with prominent perivascular hyalinization and a novel NCOA4-RET fusion / $c M. Michal, N. Ptáková, P. Martínek, Z. Gatalica, DV. Kazakov, K. Michalová, L. Stoláriková, M. Švajdler, M. Michal,
- 520 9_
- $a We report a case of a 35-year old male patient with a tumor located in the deep dermis on his forearm. The lesion was completely excised but recurred 4 years later. The patient showed no signs of neurofibromatosis type 1. The morphology and immunophenotype of the tumor corresponded to the recently characterized group of soft tissue spindle cell lesions defined by a relatively uniform cytomorphology, patternless architecture, conspicuous stromal and perivascular hyalinization, S100 and CD34 coexpression and recurrent fusions involving RAF1, BRAF, and NTRK1/2 genes. Using a 592-gene panel and massively parallel next-generation sequencing platform, we initially detected only NF1 gene mutation in our case. However, further molecular testing with Archer fusion assay revealed a novel NCOA4-RET gene fusion, adding it to the list of multiple kinase fusions originally reported in these tumors. Although break-apart FISH showed false negative result due to the presence of intrachromosomal rearrangement, RT-PCR confirmed the fusion transcript. Knowing the exact fusion is of great clinical importance especially for patients within the aggressive subset of these neoplasms that could be treated with selective kinase inhibitors. The presented case underscores the benefits of massively parallel sequencing as the types and number of gene fusions these tumors can potentially harbor render single-gene assays such as FISH impractical, and in this particular case, also insensitive.
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a antigeny CD34 $x genetika $x metabolismus $7 D018952
- 650 _2
- $a škára $x metabolismus $x patologie $7 D020405
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a hyalin $x metabolismus $7 D006818
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a mutace $7 D009154
- 650 _2
- $a neurofibromin 1 $x genetika $7 D025542
- 650 _2
- $a koaktivátory jaderných receptorů $x genetika $x metabolismus $7 D056918
- 650 12
- $a onkogenní fúze $7 D050596
- 650 _2
- $a protoonkogenní proteiny c-ret $x genetika $x metabolismus $7 D051096
- 650 _2
- $a proteiny S100 $x genetika $x metabolismus $7 D009418
- 650 _2
- $a nádory měkkých tkání $x genetika $x patologie $7 D012983
- 655 _2
- $a kazuistiky $7 D002363
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Ptáková, Nikola $u Department of Pathology and Molecular Genetics, Bioptical Laboratory, Ltd., Pilsen, Czech Republic.
- 700 1_
- $a Martínek, Petr $u Department of Pathology and Molecular Genetics, Bioptical Laboratory, Ltd., Pilsen, Czech Republic.
- 700 1_
- $a Gatalica, Zoran $u CMI, Caris Life Sciences, Phoenix, Arizona.
- 700 1_
- $a Kazakov, Dmitry V $u Department of Pathology, Charles University, Faculty of Medicine in Pilsen, Pilsen, Czech Republic. Department of Pathology and Molecular Genetics, Bioptical Laboratory, Ltd., Pilsen, Czech Republic.
- 700 1_
- $a Michalová, Květoslava $u Department of Pathology, Charles University, Faculty of Medicine in Pilsen, Pilsen, Czech Republic. Department of Pathology and Molecular Genetics, Bioptical Laboratory, Ltd., Pilsen, Czech Republic.
- 700 1_
- $a Stoláriková, Lýdia $u Department of Pathology Medirex, Ltd., Košice, Slovakia.
- 700 1_
- $a Švajdler, Marián $u Department of Pathology, Charles University, Faculty of Medicine in Pilsen, Pilsen, Czech Republic. Department of Pathology and Molecular Genetics, Bioptical Laboratory, Ltd., Pilsen, Czech Republic.
- 700 1_
- $a Michal, Michal $u Department of Pathology, Charles University, Faculty of Medicine in Pilsen, Pilsen, Czech Republic. Department of Pathology and Molecular Genetics, Bioptical Laboratory, Ltd., Pilsen, Czech Republic.
- 773 0_
- $w MED00001898 $t Genes, chromosomes & cancer $x 1098-2264 $g Roč. 58, č. 9 (2019), s. 680-685
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/30938880 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20200511 $b ABA008
- 991 __
- $a 20200521090532 $b ABA008
- 999 __
- $a ok $b bmc $g 1525348 $s 1096546
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2019 $b 58 $c 9 $d 680-685 $e 20190416 $i 1098-2264 $m Genes, chromosomes & cancer $n Genes Chromosom Cancer $x MED00001898
- LZP __
- $a Pubmed-20200511