Detail
Článek
Článek online
FT
Medvik - BMČ
  • Je něco špatně v tomto záznamu ?

Recurrent novel HMGA2-NCOR2 fusions characterize a subset of keratin-positive giant cell-rich soft tissue tumors

A. Agaimy, M. Michal, R. Stoehr, F. Ferrazzi, P. Fabian, M. Michal, A. Franchi, F. Haller, AL. Folpe, K. Kösemehmetoğlu

. 2021 ; 34 (8) : 1507-1520. [pub] 20210319

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc22012326

Giant cell tumors of soft tissue (GCT-ST) are rare low-grade neoplasms that were at one time thought to represent the soft tissue counterparts of GCT of bone (GCT-B) but are now known to lack the H3F3 mutations characteristic of osseous GCT. We present six distinctive giant cell-rich soft tissue neoplasms that expressed keratins and carried a recurrent HMGA2-NCOR2 gene fusion. Patients were five females and one male aged 14-60 years (median, 29). All presented with superficial (subcutaneous) masses that were removed by conservative marginal (3) or wide (2) local excision. The tumors originated in the upper extremity (2), lower extremity (2), head/neck (1), and trunk (1). Five patients with follow-up (median, 21 months; range, 14-168) remained disease-free. Grossly, all tumors were well-demarcated but not encapsulated with variable lobulation. Histologically, they were composed of bland plump epithelioid or ovoid to spindled mononuclear cells admixed with evenly distributed multinucleated osteoclast-type giant cells. Foci of stromal hemorrhage and hemosiderin were seen in all cases. The mitotic activity ranged from 2 to 14/10 high power fields (median: 10). Foci of necrosis and vascular invasion were seen in one case each. The mononuclear cells were immunoreactive with the AE1/AE3 keratin cocktail and less frequently/less diffusely for K7 and K19 but lacked expression of other lineage-associated markers. RNA-based next-generation sequencing revealed an HMGA2-NCOR2 fusion in all tumors. None of the keratin-negative conventional GCT-ST showed the HMGA2-NCOR2 fusion (0/7). Metaplastic bone (4/9) and SATB2 expression (3/4) were frequent in keratin-negative conventional GCT-ST but were lacking in keratin-positive HMGA2-NCOR2 fusion-positive tumors. The distinctive immunophenotype and genotype of these tumors strongly suggest that they represent a discrete entity, differing from conventional GCT-ST and other osteoclast-rich morphologic mimics. Their natural history appears favorable, although a study of additional cases and longer follow-up are warranted.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc22012326
003      
CZ-PrNML
005      
20220506130114.0
007      
ta
008      
220425s2021 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1038/s41379-021-00789-8 $2 doi
035    __
$a (PubMed)33742141
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Agaimy, Abbas $u Institute of Pathology, Friedrich Alexander University Erlangen-Nürnberg, University Hospital of Erlangen, Erlangen, Germany. abbas.agaimy@uk-erlangen.de $1 https://orcid.org/0000000204458161
245    10
$a Recurrent novel HMGA2-NCOR2 fusions characterize a subset of keratin-positive giant cell-rich soft tissue tumors / $c A. Agaimy, M. Michal, R. Stoehr, F. Ferrazzi, P. Fabian, M. Michal, A. Franchi, F. Haller, AL. Folpe, K. Kösemehmetoğlu
520    9_
$a Giant cell tumors of soft tissue (GCT-ST) are rare low-grade neoplasms that were at one time thought to represent the soft tissue counterparts of GCT of bone (GCT-B) but are now known to lack the H3F3 mutations characteristic of osseous GCT. We present six distinctive giant cell-rich soft tissue neoplasms that expressed keratins and carried a recurrent HMGA2-NCOR2 gene fusion. Patients were five females and one male aged 14-60 years (median, 29). All presented with superficial (subcutaneous) masses that were removed by conservative marginal (3) or wide (2) local excision. The tumors originated in the upper extremity (2), lower extremity (2), head/neck (1), and trunk (1). Five patients with follow-up (median, 21 months; range, 14-168) remained disease-free. Grossly, all tumors were well-demarcated but not encapsulated with variable lobulation. Histologically, they were composed of bland plump epithelioid or ovoid to spindled mononuclear cells admixed with evenly distributed multinucleated osteoclast-type giant cells. Foci of stromal hemorrhage and hemosiderin were seen in all cases. The mitotic activity ranged from 2 to 14/10 high power fields (median: 10). Foci of necrosis and vascular invasion were seen in one case each. The mononuclear cells were immunoreactive with the AE1/AE3 keratin cocktail and less frequently/less diffusely for K7 and K19 but lacked expression of other lineage-associated markers. RNA-based next-generation sequencing revealed an HMGA2-NCOR2 fusion in all tumors. None of the keratin-negative conventional GCT-ST showed the HMGA2-NCOR2 fusion (0/7). Metaplastic bone (4/9) and SATB2 expression (3/4) were frequent in keratin-negative conventional GCT-ST but were lacking in keratin-positive HMGA2-NCOR2 fusion-positive tumors. The distinctive immunophenotype and genotype of these tumors strongly suggest that they represent a discrete entity, differing from conventional GCT-ST and other osteoclast-rich morphologic mimics. Their natural history appears favorable, although a study of additional cases and longer follow-up are warranted.
650    _2
$a mladiství $7 D000293
650    _2
$a dospělí $7 D000328
650    _2
$a senioři $7 D000368
650    _2
$a dítě $7 D002648
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a nádory obrovskobuněčné $x genetika $x patologie $7 D005870
650    _2
$a protein HMGA2 $x genetika $7 D025743
650    _2
$a lidé $7 D006801
650    _2
$a keratiny $7 D007633
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a lidé středního věku $7 D008875
650    _2
$a korepresor 2 jaderného receptoru $x genetika $7 D056985
650    _2
$a onkogenní fúze $7 D050596
650    _2
$a nádory měkkých tkání $x genetika $x patologie $7 D012983
650    _2
$a mladý dospělý $7 D055815
655    _2
$a časopisecké články $7 D016428
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Michal, Michael $u Department of Pathology, Charles University, Faculty of Medicine in Plzen, Plzen, Czech Republic $u Bioptical Laboratory, Ltd, Plzen, Czech Republic $1 https://orcid.org/0000000344037027
700    1_
$a Stoehr, Robert $u Institute of Pathology, Friedrich Alexander University Erlangen-Nürnberg, University Hospital of Erlangen, Erlangen, Germany
700    1_
$a Ferrazzi, Fulvia $u Institute of Pathology, Friedrich Alexander University Erlangen-Nürnberg, University Hospital of Erlangen, Erlangen, Germany $u Department of Nephropathology, Institute of Pathology, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany $1 https://orcid.org/0000000340114638
700    1_
$a Fabian, Pavel $u Department of Oncological and Experimental Pathology, Cancer Institute, Brno, Czech Republic
700    1_
$a Michal, Michal $u Department of Pathology, Charles University, Faculty of Medicine in Plzen, Plzen, Czech Republic $u Bioptical Laboratory, Ltd, Plzen, Czech Republic
700    1_
$a Franchi, Alessandro $u Department of Translational Research, University of Pisa, School of Medicine, Pisa, Italy
700    1_
$a Haller, Florian $u Institute of Pathology, Friedrich Alexander University Erlangen-Nürnberg, University Hospital of Erlangen, Erlangen, Germany $1 https://orcid.org/0000000201483273
700    1_
$a Folpe, Andrew L $u Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA
700    1_
$a Kösemehmetoğlu, Kemal $u Department of Pathology, Faculty of Medicine, Hacettepe University, Ankara, Turkey $1 https://orcid.org/0000000277470460
773    0_
$w MED00003380 $t Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc $x 1530-0285 $g Roč. 34, č. 8 (2021), s. 1507-1520
856    41
$u https://pubmed.ncbi.nlm.nih.gov/33742141 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y p $z 0
990    __
$a 20220425 $b ABA008
991    __
$a 20220506130106 $b ABA008
999    __
$a ok $b bmc $g 1789773 $s 1163527
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2021 $b 34 $c 8 $d 1507-1520 $e 20210319 $i 1530-0285 $m Modern pathology $n Mod Pathol $x MED00003380
LZP    __
$a Pubmed-20220425

Najít záznam

Citační ukazatele

Možnosti archivace