Primary renal sarcoma with SS18::POU5F1 gene fusion.
SS18::POU5F1
renal
sarcoma
Journal
Genes, chromosomes & cancer
ISSN: 1098-2264
Titre abrégé: Genes Chromosomes Cancer
Pays: United States
ID NLM: 9007329
Informations de publication
Date de publication:
09 2022
09 2022
Historique:
revised:
25
04
2022
received:
12
04
2022
accepted:
01
05
2022
pubmed:
7
5
2022
medline:
14
7
2022
entrez:
6
5
2022
Statut:
ppublish
Résumé
We report the first case of a primary renal undifferentiated sarcoma harboring an SS18::POU5F1 gene fusion. The patient was a 38 year-old male diagnosed with a 5 cm renal tumor which invaded the adrenal gland and extended into the renal vein. Microscopically, the neoplasm had a predominantly undifferentiated round cell morphology, with areas of rhabdoid and spindle cell growth. Similar to the previously reported cases with this fusion, by immunohistochemistry the neoplasm expressed S100 protein and epithelial markers (diffuse EMA, focal cytokeratin), suggesting the possibility of a myoepithelial phenotype. This report documents another example of a fusion-positive undifferentiated soft tissue sarcoma occurring as a primary renal neoplasm, adding to the already broad list of such entities. It highlights the crucial role of molecular analysis in establishing a specific diagnosis given the overlapping morphology and immunophenotypes such entities may exhibit.
Identifiants
pubmed: 35521683
doi: 10.1002/gcc.23053
pmc: PMC9271602
mid: NIHMS1807804
doi:
Substances chimiques
Biomarkers, Tumor
0
Octamer Transcription Factor-3
0
Oncogene Proteins, Fusion
0
POU5F1 protein, human
0
Proto-Oncogene Proteins
0
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
572-577Subventions
Organisme : NCI NIH HHS
ID : P30 CA008748
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA217694
Pays : United States
Organisme : NCI NIH HHS
ID : P50 CA140146
Pays : United States
Informations de copyright
© 2022 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals LLC.
Références
Histopathology. 2020 Oct;77(4):681-684
pubmed: 32516451
Am J Surg Pathol. 2016 Jun;40(6):723-37
pubmed: 26975036
Genes Chromosomes Cancer. 2020 Jun;59(6):348-356
pubmed: 31994243
Am J Surg Pathol. 2020 Jul;44(7):901-916
pubmed: 32217839
Am J Surg Pathol. 2002 Mar;26(3):320-7
pubmed: 11859203
Rev Esp Med Nucl Imagen Mol. 2015 Jan-Feb;34(1):49-52
pubmed: 25065972
Am J Pathol. 1998 Nov;153(5):1451-8
pubmed: 9811336
Am J Surg Pathol. 2017 May;41(5):655-662
pubmed: 28296677
Hum Pathol. 1997 Jul;28(7):767-71
pubmed: 9224742
Front Oncol. 2021 Jun 24;11:666946
pubmed: 34249705
Am J Surg Pathol. 2017 Feb;41(2):253-262
pubmed: 27984237
Cancer Res. 1998 Nov 15;58(22):5046-8
pubmed: 9823307
Am J Surg Pathol. 2000 Aug;24(8):1087-96
pubmed: 10935649
Am J Surg Pathol. 2018 Oct;42(10):1360-1369
pubmed: 29901569
Am J Surg Pathol. 2012 Jan;36(1):94-100
pubmed: 21989352
Am J Surg Pathol. 2017 Dec;41(12):1702-1712
pubmed: 28817404
Mod Pathol. 2000 Jan;13(1):29-36
pubmed: 10658907
Genes Chromosomes Cancer. 2020 Nov;59(11):620-626
pubmed: 32557980
Genes Chromosomes Cancer. 2010 Dec;49(12):1114-24
pubmed: 20815032
J Mol Diagn. 2017 Jan;19(1):4-23
pubmed: 27993330
Genes Chromosomes Cancer. 2022 Sep;61(9):572-577
pubmed: 35521683