AIMS: Round-cell sarcomas lacking specific translocations represent a diagnostic challenge. The aim of this study was to describe seven cases of CIC-DUX4 fusion-positive sarcomas, including the first reported example arising primarily in bone. METHODS AND RESULTS: Patients ranged in age from 15 years to 44 years (median: 33 years). Six cases arose from the soft tissues, and one from the iliac bone. Morphologically, all cases showed an undifferentiated round-cell population with greater atypia and pleomorphism than Ewing sarcoma. Immunohistochemically, all tumours showed focal and weak positivity for CD99, and five of seven showed nuclear and/or cytoplasmic positivity for Wilms tumour 1. Five patients had lung metastases at presentation. All patients received chemotherapy according to Ewing sarcoma protocols. All but one patient (the one with a bone tumour) died of disease after a mean of 14.5 months from the diagnosis (range: 8-20 months). CONCLUSIONS: Our series confirms that CIC-DUX4 fusion-positive sarcomas are aggressive tumours with an adverse prognosis, and with clinical, histological and genetic differences from Ewing sarcoma. The best therapeutic approach needs to be investigated.
AIMS: Round-cell sarcomas lacking specific translocations represent a diagnostic challenge. The aim of this study was to describe seven cases of CIC-DUX4 fusion-positive sarcomas, including the first reported example arising primarily in bone. METHODS AND RESULTS:Patients ranged in age from 15 years to 44 years (median: 33 years). Six cases arose from the soft tissues, and one from the iliac bone. Morphologically, all cases showed an undifferentiated round-cell population with greater atypia and pleomorphism than Ewing sarcoma. Immunohistochemically, all tumours showed focal and weak positivity for CD99, and five of seven showed nuclear and/or cytoplasmic positivity for Wilms tumour 1. Five patients had lung metastases at presentation. All patients received chemotherapy according to Ewing sarcoma protocols. All but one patient (the one with a bone tumour) died of disease after a mean of 14.5 months from the diagnosis (range: 8-20 months). CONCLUSIONS: Our series confirms that CIC-DUX4 fusion-positive sarcomas are aggressive tumours with an adverse prognosis, and with clinical, histological and genetic differences from Ewing sarcoma. The best therapeutic approach needs to be investigated.
Authors: Cristina R Antonescu; Adepitan A Owosho; Lei Zhang; Sonja Chen; Kemal Deniz; Joseph M Huryn; Yu-Chien Kao; Shih-Chiang Huang; Samuel Singer; William Tap; Inga-Marie Schaefer; Christopher D Fletcher Journal: Am J Surg Pathol Date: 2017-07 Impact factor: 6.394
Authors: John E Donahue; Evgeny Yakirevich; Shan Zhong; Diana O Treaba; Nelli S Lakis; Siraj M Ali; Suzanne M de la Monte; Shamlal Mangray Journal: Pediatr Dev Pathol Date: 2017-05-05
Authors: Markku Miettinen; Anna Felisiak-Golabek; Alejandro Luiña Contreras; John Glod; Rosandra N Kaplan; Jonathan Keith Killian; Jerzy Lasota Journal: Hum Pathol Date: 2019-01-08 Impact factor: 3.466
Authors: Yu-Chien Kao; Yun-Shao Sung; Chun-Liang Chen; Lei Zhang; Brendan C Dickson; David Swanson; Sumathi Vaiyapuri; Farida Latif; Abdullah Alholle; Shih-Chiang Huang; Jason L Hornick; Cristina R Antonescu Journal: Genes Chromosomes Cancer Date: 2017-03-31 Impact factor: 4.263