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镰状细胞病与肾母细胞瘤的罕见合并症:一例报告

Rare Comorbidity of Sickle Cell Disease and Wilms' Tumor: A Case Report.

作者信息

Masidi Philippe, Lumbu Josué, Kabeya Henoch C, Akilimali Aymar, Kruger Mariana

机构信息

Department of Pediatrics, University Clinics of Kinshasa, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo.

Department of Biomedical Sciences, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of the Congo.

出版信息

Case Rep Med. 2025 Sep 19;2025:2454588. doi: 10.1155/carm/2454588. eCollection 2025.

DOI:10.1155/carm/2454588
PMID:41019938
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12473983/
Abstract

Wilms' tumor (nephroblastoma) is among the most common childhood cancers in the Democratic Republic of Congo and other African countries. However, its association with sickle cell disease is rarely reported in the literature. We present a case of nephroblastoma associated with sickle cell disease. The management of such a case requires a multidisciplinary team in a specialized center. The combination of surgery with pre- and postoperative chemotherapy leads to excellent curative rates. Renal histology after nephrectomy provides the diagnosis and defines the tumor type. Multiple mutations leading to cancers in humans may explain the coexistence of these two genetic diseases with affected genes found in the same chromosome. Further research to provide a molecular genetic explanation of such comorbidity is recommended.

摘要

肾母细胞瘤(肾胚胎瘤)是刚果民主共和国和其他非洲国家最常见的儿童癌症之一。然而,其与镰状细胞病的关联在文献中鲜有报道。我们报告一例肾母细胞瘤合并镰状细胞病的病例。处理此类病例需要在专业中心组建多学科团队。手术联合术前和术后化疗可带来极佳的治愈率。肾切除术后的肾脏组织学检查可提供诊断并明确肿瘤类型。导致人类患癌的多种突变可能解释了这两种遗传疾病在同一染色体上的共存现象。建议开展进一步研究以对此类合并症作出分子遗传学解释。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ab4/12473983/d607e9de66b2/CRIM2025-2454588.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ab4/12473983/0284ab342c5e/CRIM2025-2454588.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ab4/12473983/d607e9de66b2/CRIM2025-2454588.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ab4/12473983/0284ab342c5e/CRIM2025-2454588.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0ab4/12473983/d607e9de66b2/CRIM2025-2454588.002.jpg

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本文引用的文献

1
Embryonal precursors of Wilms tumor.Wilms 瘤的胚胎前体。
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2
Clusters of Multiple Mutations: Incidence and Molecular Mechanisms.多重突变簇:发生率及分子机制
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Wilms' tumor (nephroblastoma).肾母细胞瘤(肾胚胎瘤)。
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