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12 岁男孩在完成肝母细胞瘤治疗 17 个月后患恶性黑色素瘤。

Malignant melanoma in a 12-year-old boy 17 months after completing hepatoblastoma treatment.

机构信息

Pediatrics, Nihon University Itabashi Hospital, Tokyo, Japan.

Department of Pediatric Oncology, National Cancer Center Hospital, Tokyo, Japan.

出版信息

Cancer Rep (Hoboken). 2024 May;7(5):e2118. doi: 10.1002/cnr2.2118.

DOI:10.1002/cnr2.2118
PMID:38801212
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11129619/
Abstract

BACKGROUND

Melanoma is rare as a secondary malignant neoplasm among childhood cancer survivors.

CASE

We report a case of a 12-year-old boy who developed malignant melanoma with systemic metastases 17 months after completing treatment for hepatoblastoma. The diagnosis was made unexpectedly based on a bone marrow examination. The patient did not respond to immune checkpoint inhibitor therapy and died 6 weeks after being diagnosed with melanoma. Whole-exome sequencing to examine 103 genes associated with cancer predisposition did not identify any germ-line variants.

CONCLUSION

This case study provides a unique example of melanoma in a childhood cancer survivor following hepatoblastoma treatment but does not identify any candidate variant to link hepatoblastoma and melanoma.

摘要

背景

黑色素瘤作为儿童癌症幸存者的继发性恶性肿瘤较为罕见。

病例报告

我们报告了一例 12 岁男孩的病例，他在完成肝母细胞瘤治疗 17 个月后发生了伴全身转移的恶性黑色素瘤。诊断出乎意料，是基于骨髓检查做出的。患者对免疫检查点抑制剂治疗无反应，在诊断为黑色素瘤后 6 周死亡。对与癌症易感性相关的 103 个基因进行全外显子测序，未发现任何种系变异。

结论

本病例研究提供了儿童癌症幸存者在接受肝母细胞瘤治疗后发生黑色素瘤的一个独特范例，但未发现任何候选变异与肝母细胞瘤和黑色素瘤相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d86/11129619/aedcd0abc403/CNR2-7-e2118-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d86/11129619/eb2f0290e3e4/CNR2-7-e2118-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d86/11129619/83c47e6391f6/CNR2-7-e2118-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d86/11129619/aedcd0abc403/CNR2-7-e2118-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d86/11129619/eb2f0290e3e4/CNR2-7-e2118-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d86/11129619/83c47e6391f6/CNR2-7-e2118-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4d86/11129619/aedcd0abc403/CNR2-7-e2118-g002.jpg

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本文引用的文献

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Primer on Hereditary Cancer Predisposition Genes Included Within Somatic Next-Generation Sequencing Panels.体细胞二代测序面板中包含的遗传性癌症易感基因入门知识
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Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.家族性黑色素瘤与易感基因：最常见临床及皮肤镜表型、相关恶性肿瘤综述及管理实用技巧
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The Genetic Changes of Hepatoblastoma.
肝母细胞瘤的基因变化
Front Oncol. 2021 Jul 21;11:690641. doi: 10.3389/fonc.2021.690641. eCollection 2021.
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Outcome and Late Complications of Hepatoblastomas Treated Using the Japanese Study Group for Pediatric Liver Tumor 2 Protocol.采用日本小儿肝肿瘤研究组 2 号方案治疗肝母细胞瘤的结果和晚期并发症。
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Cytogenet Genome Res. 2020;160(4):167-176. doi: 10.1159/000507837. Epub 2020 May 9.
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Five-Year Survival with Combined Nivolumab and Ipilimumab in Advanced Melanoma.纳武利尤单抗联合伊匹木单抗治疗晚期黑色素瘤的 5 年生存数据
N Engl J Med. 2019 Oct 17;381(16):1535-1546. doi: 10.1056/NEJMoa1910836. Epub 2019 Sep 28.
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Effective Immunotherapy in Bone Marrow Metastatic Melanoma Presenting with Disseminated Intravascular Coagulopathy.伴有弥散性血管内凝血的骨髓转移性黑色素瘤的有效免疫治疗
Case Reports Immunol. 2018 Feb 12;2018:4520294. doi: 10.1155/2018/4520294. eCollection 2018.
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