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病例报告：成功治疗一名患有急性淋巴细胞白血病与IVA型黏多糖贮积症极为罕见关联的患者。

Case report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA.

作者信息

Arnaboldi Sofia Maria Carlotta, Faraguna Martha Caterina, Colombini Antonella, Sala Alessandra, Leoni Veronica, Spinelli Marco, Gotti Giacomo, Bettini Laura Rachele, Crescitelli Viola, Commone Anna, Gasperini Serena, Rizzari Carmelo

机构信息

Department of Pediatrics, Pediatric Hematology-Oncology Unit, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.

Fondazione Matilde Tettamanti e Menotti De Marchi Onlus, Monza, Italy.

出版信息

Front Pediatr. 2025 Sep 4;13:1644720. doi: 10.3389/fped.2025.1644720. eCollection 2025.

DOI:10.3389/fped.2025.1644720
PMID:40980122
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12443533/
Abstract

Treating Acute Lymphoblastic Leukemia (ALL) in patients with genetic disorders poses significant challenges for onco-hematologists. Mucopolysaccharidosis type IVA (MPS-IVA) is a lysosomal storage disorder that clinically manifests with progressive and multi-systemic comorbidities, primarily affecting the bone, cartilage, spine, heart and lungs. We report a unique case of B-lineage ALL in a patient with MPS-IVA, who was successfully cured with a personalized chemo-radiotherapy approach. The treatment strategy aimed to balance a curative-intent chemotherapy attempt with the minimization of life-threatening complications. This case highlights the importance of individualized therapy in managing ALL in the context of complex comorbidities.

摘要

治疗患有遗传疾病的急性淋巴细胞白血病（ALL）患者对肿瘤血液科医生来说是重大挑战。IVA型粘多糖贮积症（MPS-IVA）是一种溶酶体贮积症，临床上表现为进行性多系统合并症，主要影响骨骼、软骨、脊柱、心脏和肺部。我们报告了1例患有MPS-IVA的B系ALL独特病例，该患者通过个性化放化疗方法成功治愈。治疗策略旨在平衡根治性化疗尝试与将危及生命的并发症降至最低。该病例凸显了在复杂合并症背景下个体化治疗对ALL管理的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d08/12443533/e32619048b5e/fped-13-1644720-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d08/12443533/ce18b90f402a/fped-13-1644720-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d08/12443533/2560383c61e7/fped-13-1644720-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d08/12443533/918832eff56f/fped-13-1644720-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d08/12443533/e32619048b5e/fped-13-1644720-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d08/12443533/ce18b90f402a/fped-13-1644720-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d08/12443533/2560383c61e7/fped-13-1644720-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d08/12443533/918832eff56f/fped-13-1644720-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d08/12443533/e32619048b5e/fped-13-1644720-g004.jpg

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本文引用的文献

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Blinatumomab in Standard-Risk B-Cell Acute Lymphoblastic Leukemia in Children.博纳吐单抗用于儿童标准风险B细胞急性淋巴细胞白血病的治疗
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Blinatumomab for First-Line Treatment of Children and Young Persons With B-ALL.blinatumomab 用于治疗儿童和青少年 B 细胞急性淋巴细胞白血病的一线治疗。
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Blinatumomab Added to Chemotherapy in Infant Lymphoblastic Leukemia.Blinatumomab 联合化疗治疗婴儿急性淋巴细胞白血病。
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Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.Morquio A 注册研究（MARS）6 年后的结果：用艾度硫酸酯酶治疗 MPS IVA 患者的长期结果。
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