Undifferentiated round cell sarcoma with BCOR internal tandem duplications (ITD) or YWHAE fusions: A clinicopathologic and molecular study Journal Article
| Authors: | Antonescu, C. R.; Kao, Y. C.; Xu, B.; Fujisawa, Y.; Chung, C.; Fletcher, C. D. M.; Graf, N.; Suurmeijer, A. J.; Zin, A.; Wexler, L. H.; Ferrari, A.; Bisogno, G.; Alaggio, R. |
| Article Title: | Undifferentiated round cell sarcoma with BCOR internal tandem duplications (ITD) or YWHAE fusions: A clinicopathologic and molecular study |
| Abstract: | Until recently, undifferentiated round cell sarcomas (URCS) in infants have been considered a wastebasket diagnosis, composed of various pathologic entities and lacking consistent genetic alterations. The recent identification of recurrent BCOR internal tandem duplications (ITD) and less common alternative YWHAE–NUTM2B/E fusions in half of infantile URCS and the majority of so-called primitive myxoid mesenchymal tumors of infancy (PMMTI) suggests a common pathogenesis with clear cell sarcoma of the kidney which also harbors the same genetic alterations. These tumors also share a similar morphology and immunoprofile, including positivity for BCOR, cyclin D1, and SATB2. In this study, we investigate the largest cohort to date of genetically confirmed URCS and PMMTI with BCOR ITD or YWHAE fusions to better define their morphologic spectrum and clinical behavior. Twenty-eight cases harbored BCOR ITD and five YWHAE fusions, occurring in 29 infants and 4 children, 19 males and 14 females. Microscopically, 20 were classified as URCS and 13 as PMMTI. Follow-up was available in 25 patients, with 14 (56%) succumbing to their diseases at a mean duration of 18-months follow-up (range: 2–62). Six patients remained with no evidence of disease at a mean follow-up of 63 months (range: 4–192), four patients were still alive with disease (mean follow-up: 46 months, range: 4–120), and one died of other causes. Local recurrence and distant metastasis were each observed in 11/25 (44%) of the patients. The overall survival was 42% at 3 years and 34% at 5 years (median survival: 26 months). There was no statistically significant survival difference between cases diagnosed as URCS and PMMTI and between those with BCOR ITD and YWHAE fusions. © 2020, The Author(s), under exclusive licence to United States & Canadian Academy of Pathology. |
| Keywords: | adolescent; cancer survival; child; clinical article; human tissue; preschool child; survival analysis; overall survival; clinical feature; cancer recurrence; cisplatin; doxorubicin; follow up; gene; carboplatin; reverse transcription polymerase chain reaction; etoposide; cohort analysis; cyclophosphamide; vincristine; morphology; cancer mortality; distant metastasis; ifosfamide; sarcoma; infant; newborn; gene fusion; dactinomycin; gene duplication; cyclin d1; mortality rate; internal tandem duplication; sanger sequencing; human; male; female; priority journal; article; bcor gene; whole transcriptome sequencing; ywhae gene; infant disease; primitive myxoid mesenchymal tumor of infancy; satb2 gene; undifferentiated round cell sarcoma |
| Journal Title: | Modern Pathology |
| Volume: | 33 |
| Issue: | 9 |
| ISSN: | 0893-3952 |
| Publisher: | Nature Research |
| Date Published: | 2020-09-01 |
| Start Page: | 1669 |
| End Page: | 1677 |
| Language: | English |
| DOI: | 10.1038/s41379-020-0557-5 |
| PUBMED: | 32372022 |
| PROVIDER: | scopus |
| PMCID: | PMC7483745 |
| DOI/URL: | |
| Notes: | Article -- Export Date: 1 October 2020 -- Source: Scopus |
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