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18.03.2021 | Original Article

Liposarcoma in children and young adults: a clinicopathologic and molecular study of 23 cases in one of the largest institutions of China

verfasst von: Ran Peng, Nan Li, Ting Lan, Huijiao Chen, Tianhai Du, Xin He, Min Chen, You Xie, Zhang Zhang, Wei Zhao, Hongying Zhang

Erschienen in: Virchows Archiv | Ausgabe 3/2021

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Abstract

The incidence of pediatric liposarcoma is rare and most published cases lack systematic genetic analyses. We present clinicopathologic and genetic features of 23 liposarcomas aged <22 years. The study cohort comprised 10 males and 13 females (M:F=1:1.3) aged 11–21 years (median 17 years). The tumors predominantly occurred at the extremities (16/23; 69.6%), followed by the head/neck (2/23; 8.7%), chest (2/23; 8.7%), waist (2/23, 8.7%), and retroperitoneum (1/23; 4.3%). The tumor subtypes were sixteen myxoid liposarcoma (ML), one well-differentiated liposarcoma (WDL), two dedifferentiated liposarcoma (DDL), one pleomorphic liposarcoma (PL), and three myxoid pleomorphic liposarcoma (MPL) cases. Fluorescence in situ hybridization analysis identified MDM2/CDK4 amplification in all WDL/DDL cases (3/3; 100%) and DDIT3 rearrangement in all ML cases (13/13; 100%). Whole-exome sequencing indicated that one PL case and one MPL case exhibited RB1 loss. The two tested MPL cases had TP53 mutation and one of them harbored a TP53 germline mutation. Follow-up information was available for 20 patients (20/23; 87.0%) with a median follow-up duration of 42.5 months (range, 13–120 months). Three patients exhibited tumor progression (3/20;15.0%). Seventeen patients (17/20; 85.0%) survived with no evidence of disease. One MPL case (1/20; 5.0%) died of the disease. In conclusion, despite some overlaps, the occurrence, distribution of subtype, and prognosis of liposarcoma are overall different in children and adults. Most MLs and ALT/WDL/DDLs showed similar genetic aberrations with adult counterparts. Molecular features of MPL overlapped with those of conventional PL. The genetic characteristics including Tp53 status of MPL need further investigation.

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Titel: Liposarcoma in children and young adults: a clinicopathologic and molecular study of 23 cases in one of the largest institutions of China
verfasst von: Ran Peng
Nan Li
Ting Lan
Huijiao Chen
Tianhai Du
Xin He
Min Chen
You Xie
Zhang Zhang
Wei Zhao
Hongying Zhang
Publikationsdatum: 18.03.2021
Verlag: Springer Berlin Heidelberg
Erschienen in: Virchows Archiv / Ausgabe 3/2021
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-021-03076-8

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