1. Embryonal rhabdomyosarcoma of the uterine corpus: a clinicopathological and molecular analysis of 21 cases highlighting a frequent association with DICER1 mutations
- Author
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Leanne de Kock, Esther Oliva, Andre Pinto, Robert H. Young, Zehra Ordulu, Jennifer A. Bennett, W. Glenn McCluggage, William D. Foulkes, Lauren L. Ritterhouse, Koen Van de Vijver, Rajeev Shah, Pankhuri Wanjari, and Eike Burandt
- Subjects
Adult ,Ribonuclease III ,0301 basic medicine ,Neuroblastoma RAS viral oncogene homolog ,Pathology ,medicine.medical_specialty ,Tumor Cell Necrosis ,Pleuropulmonary blastoma ,medicine.disease_cause ,MULLERIAN ADENOSARCOMA ,Pathology and Forensic Medicine ,UTERUS ,DEAD-box RNA Helicases ,03 medical and health sciences ,0302 clinical medicine ,Medicine and Health Sciences ,medicine ,Humans ,Rhabdomyosarcoma, Embryonal ,HETEROLOGOUS ELEMENTS ,WILMS-TUMOR ,Anaplasia ,Aged ,DICER1 Syndrome ,business.industry ,PLEUROPULMONARY BLASTOMA ,PURE ALVEOLAR RHABDOMYOSARCOMA ,Wilms' tumor ,Middle Aged ,medicine.disease ,GENOMIC ANALYSIS ,030104 developmental biology ,030220 oncology & carcinogenesis ,Mutation ,Uterine Neoplasms ,CHILDHOOD RHABDOMYOSARCOMA ,Female ,Embryonal rhabdomyosarcoma ,KRAS ,medicine.symptom ,PRIMARY OVARIAN RHABDOMYOSARCOMA ,URINARY-BLADDER ,business - Abstract
Herein we evaluated a series of 21 embryonal rhabdomyosarcomas of the uterine corpus (ucERMS), a rare neoplasm, to characterize their morphology, genomics, and behavior. Patients ranged from 27 to 73 (median 52) years and tumors from 4 to 15 (median 9) cm, with extrauterine disease noted in two. Follow-up (median 16 months) was available for 14/21 patients; nine were alive and well, four died of disease, and one died from other causes. Most tumors (16/21) showed predominantly classic morphology, comprised of alternating hyper- and hypocellular areas of primitive small cells and differentiating rhabdomyoblasts in a loose myxoid/edematous stroma. A cambium layer was noted in all; seven had heterologous elements (six with fetal-type cartilage) and eight displayed focal anaplasia. The remaining five neoplasms showed only a minor component (
- Published
- 2021