Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.

IF 0.9 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2023-08-01 Epub Date: 2023-05-05 DOI:10.1159/000530197

Kosuke Izumi, Rebecca D Ganetzky, Gerald B W Wertheim, Cara M Skraban, Emma C Bedoukian, Alisha Wilkens, Christopher Fincher, Nina H Thomas, Jill P Ginsberg, Susan R Rheingold, Laura K Conlin, Matthew A Deardorff

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引用次数: 0

Abstract

Background: Pallister-Killian syndrome (PKS) is typically recognized by its features that include developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome 12p.

Case presentation: Here, we report a patient with PKS who was subsequently diagnosed with Burkitt lymphoma. Following the successful treatment of lymphoma, this patient demonstrated very mild intellectual disability despite the diagnosis of PKS, which is usually associated with severe developmental delay.

Discussion: This is the first reported patient with PKS and a hematologic malignancy. Although there is no significant reported association of tetrasomy 12p with cancer, the co-occurrence of two rare findings in this patient suggests a potential relationship. The localization of AICDA, a gene for which overexpression has been implicated in promoting t(8;14) noted in our patient's lymphoma, raises a potential mechanism of pathogenesis. In addition, this case indicates that children with PKS can demonstrate near-normal cognitive development.

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一名神经认知发育接近正常的患者同时患有帕利斯特-基里安综合征和伯基特淋巴瘤

背景：帕利斯特-基利安综合征（Pallister-Killian Syndrome，PKS）的典型特征包括发育迟缓、癫痫发作、颞部毛发稀疏和面部畸形。PKS 最常见的病因是 12p 异染色体嵌合超常：在此，我们报告了一名随后被诊断为伯基特淋巴瘤的 PKS 患者。在成功治疗淋巴瘤后，该患者表现出非常轻微的智力障碍，尽管诊断为 PKS，但通常伴有严重的发育迟缓：讨论：这是首例PKS合并血液系统恶性肿瘤的患者。虽然目前还没有关于12p四体综合征与癌症密切相关的报道，但该患者身上同时出现的两种罕见病理结果表明两者之间存在潜在的联系。AICDA 基因的定位（该基因的过度表达被认为是诱发淋巴瘤 t（8;14）的原因）提出了一种潜在的发病机制。此外，该病例还表明，PKS患儿的认知发育可接近正常。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.