Case Report: Primary low-grade dedifferentiated liposarcoma of the urinary bladder with molecular confirmation

Liposarcomas originating in the urinary bladder are extremely rare. Only six cases of bladder liposarcoma have been reported, and all have been described as myxoid liposarcomas. Notably, none of the patients underwent molecular testing. Here, we report a dedifferentiated liposarcoma (DDL) that occur...

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Main Authors: Jian Cui, Ran Peng, Yahan Zhang, Yang Lu, Xin He, Min Chen, Hongying Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-10-01
Series:Frontiers in Oncology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2023.1221027/full
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author Jian Cui
Ran Peng
Yahan Zhang
Yang Lu
Xin He
Min Chen
Hongying Zhang
author_facet Jian Cui
Ran Peng
Yahan Zhang
Yang Lu
Xin He
Min Chen
Hongying Zhang
author_sort Jian Cui
collection DOAJ
description Liposarcomas originating in the urinary bladder are extremely rare. Only six cases of bladder liposarcoma have been reported, and all have been described as myxoid liposarcomas. Notably, none of the patients underwent molecular testing. Here, we report a dedifferentiated liposarcoma (DDL) that occurred in the urinary bladder, primarily in a 69-year-old Chinese woman, with infrequent low-grade dedifferentiation. Computed tomography (CT) revealed an ill-defined solid mass in the anterior bladder wall. The patient underwent a partial bladder resection. Histologically, the tumor cells with mild-to-moderate nuclear atypia were arranged in fascicular and storiform patterns, mimicking a low-grade fibroblastic tumor. In addition, scattered small foci of typical lipoma-like well-differentiated components were identified. Immunohistochemically, the tumor tested positivity for MDM2, CDK4, and p16. Fluorescence in situ hybridization revealed MDM2 gene amplification in the neoplastic cells. Whole-exome sequencing showed that this tumor also harbored CDK4, TSPAN31, and JUN amplification. At the latest follow-up (85 months after surgery), the patient was alive, with no evidence of disease. To the best of our knowledge, this is the first example of a molecularly confirmed primary bladder liposarcoma and the first case of DDL at this site.
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spelling doaj.art-eba28d3a4fe54799a1119011c3bfb2102023-10-10T06:57:32ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2023-10-011310.3389/fonc.2023.12210271221027Case Report: Primary low-grade dedifferentiated liposarcoma of the urinary bladder with molecular confirmationJian CuiRan PengYahan ZhangYang LuXin HeMin ChenHongying ZhangLiposarcomas originating in the urinary bladder are extremely rare. Only six cases of bladder liposarcoma have been reported, and all have been described as myxoid liposarcomas. Notably, none of the patients underwent molecular testing. Here, we report a dedifferentiated liposarcoma (DDL) that occurred in the urinary bladder, primarily in a 69-year-old Chinese woman, with infrequent low-grade dedifferentiation. Computed tomography (CT) revealed an ill-defined solid mass in the anterior bladder wall. The patient underwent a partial bladder resection. Histologically, the tumor cells with mild-to-moderate nuclear atypia were arranged in fascicular and storiform patterns, mimicking a low-grade fibroblastic tumor. In addition, scattered small foci of typical lipoma-like well-differentiated components were identified. Immunohistochemically, the tumor tested positivity for MDM2, CDK4, and p16. Fluorescence in situ hybridization revealed MDM2 gene amplification in the neoplastic cells. Whole-exome sequencing showed that this tumor also harbored CDK4, TSPAN31, and JUN amplification. At the latest follow-up (85 months after surgery), the patient was alive, with no evidence of disease. To the best of our knowledge, this is the first example of a molecularly confirmed primary bladder liposarcoma and the first case of DDL at this site.https://www.frontiersin.org/articles/10.3389/fonc.2023.1221027/fullatypical lipomatous tumor/well-differentiated liposarcomadedifferentiated liposarcomaurinary bladder12q13-15 amplificationMDM2 amplificationJUN amplification
spellingShingle Jian Cui
Ran Peng
Yahan Zhang
Yang Lu
Xin He
Min Chen
Hongying Zhang
Case Report: Primary low-grade dedifferentiated liposarcoma of the urinary bladder with molecular confirmation
Frontiers in Oncology
atypical lipomatous tumor/well-differentiated liposarcoma
dedifferentiated liposarcoma
urinary bladder
12q13-15 amplification
MDM2 amplification
JUN amplification
title Case Report: Primary low-grade dedifferentiated liposarcoma of the urinary bladder with molecular confirmation
title_full Case Report: Primary low-grade dedifferentiated liposarcoma of the urinary bladder with molecular confirmation
title_fullStr Case Report: Primary low-grade dedifferentiated liposarcoma of the urinary bladder with molecular confirmation
title_full_unstemmed Case Report: Primary low-grade dedifferentiated liposarcoma of the urinary bladder with molecular confirmation
title_short Case Report: Primary low-grade dedifferentiated liposarcoma of the urinary bladder with molecular confirmation
title_sort case report primary low grade dedifferentiated liposarcoma of the urinary bladder with molecular confirmation
topic atypical lipomatous tumor/well-differentiated liposarcoma
dedifferentiated liposarcoma
urinary bladder
12q13-15 amplification
MDM2 amplification
JUN amplification
url https://www.frontiersin.org/articles/10.3389/fonc.2023.1221027/full
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