Phenotypic similarities within the morphologic spectrum of DICER1‐associated sarcomas and pleuropulmonary blastoma: Histopathologic features guide diagnosis in the LMIC setting. Issue 3 (16th December 2021)

• Record Type: Journal Article
• Authors: Roy, Paromita; Das, Anirban; Singh, Angad; Panda, Joyshree; Bhattacharya, Arpita; Gehani, Anisha; Parihar, Mayur; K. S., Reghu; Achari, Rimpa; Alaggio, Rita; Field, Amanda; Hill, D. Ashley; Dehner, Louis P.; Schultz, Kris Ann P.
• Is Part Of: Pediatric blood & cancer. Volume 69:Issue 3(2022)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-12-16
• Subjects: DICER1‐associated sarcoma -- DICER1 syndrome -- rhabdomyosarcoma; Tumors in children -- Periodicals; Blood -- Diseases -- Periodicals; Cancer in children -- Periodicals; 618.92
• DOI: 10.1002/pbc.29466
• Languages: English
• ISSNs: 1545-5009

Abstract

Abstract: Extrapulmonary DICER1 ‐associated sarcomas (DS) can harbor morphological features overlapping with pleuropulmonary blastoma. We report three children with intracranial and genital tract sarcomas, suspected to have DS based on a heterogeneous yet defining combination of spindle‐cell sarcomatous and blastemal morphology, with rhabdomyomatous differentiation. Foci of immature cartilage at diagnosis ( n = 2/3) and increased neuroepithelial differentiation at recurrence ( n = 1) were noted. Morphological suspicion prompted somatic testing at reference centers, confirming likely biallelic, loss‐of‐function, and "hotspot" missense DICER1 variants in all three tumors. This can serve as a model for this diagnosis in resource‐limited settings and has implications for germline testing, surveillance, and tumor management.