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EWSR1::POU2AF3(COLCA2) Sarcoma: An Aggressive, Polyphenotypic Sarcoma With a Head and Neck Predilection

O. Koshyk, CA. Dehner, MFCM. van den Hout, IV. Bempt, R. Sciot, HY. Huang, A. Agaimy, NU. Din, N. Klubíčková, E. Mosaieby, A. Skálová, K. Michalová, P. Schöffski, AM. Oliveira, KC. Halling, S. Gupta, JM. Gross, JWM. Nin, M. Michal, AL. Folpe, K....

. 2023 ; 36 (12) : 100337. [pub] 20230922

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc24000471

EWSR1::POU2AF3 (COLCA2) sarcomas are a recently identified group of undifferentiated round/spindle cell neoplasms with a predilection for the head and neck region. Herein, we report our experience with 8 cases, occurring in 5 men and 3 women (age range, 37-74 years; median, 60 years). Tumors involved the head/neck (4 cases), and one each the thigh, thoracic wall, fibula, and lung. Seven patients received multimodal therapy; 1 patient was treated only with surgery. Clinical follow-up (8 patients; range, 4-122 months; median, 32 months) showed 5 patients with metastases (often multifocal, with a latency ranging from 7 to 119 months), and 3 of them also with local recurrence. The median local recurrence-free and metastasis-free survival rates were 24 months and 29 months, respectively. Of the 8 patients, 1 died of an unknown cause, 4 were alive with metastatic disease, 1 was alive with unresectable local disease, and 2 were without disease. The tumors were composed of 2 morphologic subgroups: (1) relatively bland tumors consisting of spindled to stellate cells with varying cellularity and fibromyxoid stroma (2 cases) and (2) overtly malignant tumors composed of nests of "neuroendocrine-appearing" round cells surrounded by spindled cells (6 cases). Individual cases in the second group showed glandular, osteogenic, or rhabdomyoblastic differentiation. Immunohistochemical results included CD56 (4/4 cases), GFAP (5/8), SATB2 (4/6), keratin (AE1/AE3) (5/8), and S100 protein (4/7). RNA sequencing identified EWSR1::POU2AF3 gene fusion in all cases. EWSR1 gene rearrangement was confirmed by fluorescence in situ hybridization in 5 cases. Our findings confirm the head/neck predilection and aggressive clinical behavior of EWSR1::POU2AF3 sarcomas and widen the morphologic spectrum of these rare lesions to include relatively bland spindle cell tumors and tumors with divergent differentiation.

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$a EWSR1::POU2AF3 (COLCA2) sarcomas are a recently identified group of undifferentiated round/spindle cell neoplasms with a predilection for the head and neck region. Herein, we report our experience with 8 cases, occurring in 5 men and 3 women (age range, 37-74 years; median, 60 years). Tumors involved the head/neck (4 cases), and one each the thigh, thoracic wall, fibula, and lung. Seven patients received multimodal therapy; 1 patient was treated only with surgery. Clinical follow-up (8 patients; range, 4-122 months; median, 32 months) showed 5 patients with metastases (often multifocal, with a latency ranging from 7 to 119 months), and 3 of them also with local recurrence. The median local recurrence-free and metastasis-free survival rates were 24 months and 29 months, respectively. Of the 8 patients, 1 died of an unknown cause, 4 were alive with metastatic disease, 1 was alive with unresectable local disease, and 2 were without disease. The tumors were composed of 2 morphologic subgroups: (1) relatively bland tumors consisting of spindled to stellate cells with varying cellularity and fibromyxoid stroma (2 cases) and (2) overtly malignant tumors composed of nests of "neuroendocrine-appearing" round cells surrounded by spindled cells (6 cases). Individual cases in the second group showed glandular, osteogenic, or rhabdomyoblastic differentiation. Immunohistochemical results included CD56 (4/4 cases), GFAP (5/8), SATB2 (4/6), keratin (AE1/AE3) (5/8), and S100 protein (4/7). RNA sequencing identified EWSR1::POU2AF3 gene fusion in all cases. EWSR1 gene rearrangement was confirmed by fluorescence in situ hybridization in 5 cases. Our findings confirm the head/neck predilection and aggressive clinical behavior of EWSR1::POU2AF3 sarcomas and widen the morphologic spectrum of these rare lesions to include relatively bland spindle cell tumors and tumors with divergent differentiation.
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$a Dehner, Carina A $u Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; Department of Pathology, Indiana University School of Medicine, Indianapolis, Indiana
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$a van den Hout, Mari F C M $u Department of Pathology, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, Maastricht, The Netherlands
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$a Bempt, Isabelle Vanden $u Department for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium
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$a Sciot, Raf $u Department of Pathology, University Hospitals Leuven, KU Leuven, Leuven, Belgium
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$a Huang, Hsuan-Ying $u Department of Anatomical Pathology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung City, Taiwan
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$a Agaimy, Abbas $u Institute of Pathology, Friedrich-Alexander University Erlangen-Nürnberg, University Hospital, Erlangen, Germany
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$a Din, Nasir Ud $u Section of Histopathology, Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi, Pakistan
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$a Klubíčková, Natálie $u Department of Pathology, Charles University, Faculty of Medicine in Plzeň, Czech Republic; Bioptical Laboratory, Ltd, Plzeň, Czech Republic
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$a Mosaieby, Elaheh $u Department of Pathology, Charles University, Faculty of Medicine in Plzeň, Czech Republic; Bioptical Laboratory, Ltd, Plzeň, Czech Republic
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$a Skálová, Alena $u Department of Pathology, Charles University, Faculty of Medicine in Plzeň, Czech Republic; Bioptical Laboratory, Ltd, Plzeň, Czech Republic
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$a Michalová, Květoslava $u Department of Pathology, Charles University, Faculty of Medicine in Plzeň, Czech Republic; Bioptical Laboratory, Ltd, Plzeň, Czech Republic
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$a Schöffski, Patrick $u Department of General Medical Oncology, University Hospitals Leuven, Leuven Cancer Institute, Leuven, Belgium; Department of Oncology, KU Leuven, Laboratory of Experimental Oncology, Leuven, Belgium
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$a Oliveira, Andre M $u Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota
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$a Halling, Kevin C $u Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota
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$a Gupta, Sounak $u Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota
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$a Gross, John M $u Department of Pathology, The Johns Hopkins Medical Institutions, Baltimore, Maryland
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$a Nin, Johanna W M $u Department of Internal Medicine, Maastricht University Medical Center, Maastricht, The Netherlands
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$a Michal, Michal $u Department of Pathology, Charles University, Faculty of Medicine in Plzeň, Czech Republic; Bioptical Laboratory, Ltd, Plzeň, Czech Republic
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$a Folpe, Andrew L $u Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota
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$a Kosemehmetoglu, Kemal $u Department of Pathology, Hacettepe University, Ankara, Turkey
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$a Torres-Mora, Jorge $u Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota
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$a Michal, Michael $u Department of Pathology, Charles University, Faculty of Medicine in Plzeň, Czech Republic; Bioptical Laboratory, Ltd, Plzeň, Czech Republic. Electronic address: michael.michal@biopticka.cz
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