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

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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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Funding

This work was supported by the National Natural Science Foundation of China (No. 81972520, 81472510), Sichuan Science and Technology Program (NO.2020YFS0270), and the 135 Project for Disciplines of Excellence–Clinical Research Incubation Project, West China Hospital, Sichuan University (NO.2018HXFH011).

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Authors and Affiliations

  1. Department of Pathology, West China Hospital, Sichuan University, Guoxuexiang 37, Chengdu, 610041, Sichuan, China

    Ran Peng, Huijiao Chen, Tianhai Du, Xin He, Min Chen, You Xie, Zhang Zhang, Wei Zhao & Hongying Zhang

  2. Department of Pathology, The Fourth Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China

    Nan Li

  3. Department of Pathology, Sichuan Cancer Hospital & Institute, Chengdu, Sichuan, China

    Ting Lan

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  1. Ran Peng
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  10. Wei Zhao
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Contributions

Ran Peng: data analysis, test performance and writing. Nan Li and Ting Lan: review and collect information. Huijiao Chen and Zhang Zhang: data review and histopathological examinations. Tianhai Du and Min Chen: help molecular experiments. Xin He: review of histopathology. You Xie and Wei Zhao: collect information. Hongying Zhang: the corresponding author, study design, and the manuscript revision.

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Correspondence to Hongying Zhang.

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Peng, R., Li, N., Lan, T. et al. Liposarcoma in children and young adults: a clinicopathologic and molecular study of 23 cases in one of the largest institutions of China. Virchows Arch 479, 537–549 (2021). https://doi.org/10.1007/s00428-021-03076-8

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