Lab Med Online.  2023 Jan;13(1):48-52. 10.47429/lmo.2023.13.1.48.

First Korean Case of Weaver Syndrome Along with Neuroblastoma and Genetic Confirmation of EZH2 Variant

• Oh I
• Kim B
• Lee JS
• Kim MJ
• Cho SI
• Park SS
• Seong MW

• KMID: 2552725
• DOI: http://doi.org/10.47429/lmo.2023.13.1.48

Abstract

Weaver syndrome (WS) is a rare congenital disorder characterized by overgrowth and accelerated osseous maturation. This syndrome is caused by a variant in the enhancer of zeste homolog 2 ( EZH2 ) gene. No genetically confirmed cases of WS have been reported in Korea. In this case report, we discuss a case in which a variant in EZH2 was detected and confirmed as WS in a patient showing overgrowth syndrome accompanied by neuroblastoma. A 7-month-old female presented to the out-patient pediatrics clinic of Seoul National University Hospital because of multiple palpable masses. Pathological examination confirmed that the mass was neuroblastoma. The patient’s height, head circumference, and weight were ≥ 97% of those expected for her age. The c.2050C>T (p.Arg684Cys) variant of EZH2 was confirmed through next-generation sequencing-based gene panel testing. Although overgrowth syndrome caused by variants in EZH2 is rare, screening for this condition should be included in the gene panel to evaluate overgrowth syndrome. The possibility of WS should be considered in cases of overgrowth syndrome accompanied by neuroblastoma.

Keyword

Weaver syndrome; Neuroblastoma; Enhancer of zeste homolog 2; Congenital Disorder

Figure

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  Fig. 1 Morphological characteristics of bone marrow aspirate and visualization of next-generation gene sequencing data of the patient. (A) Neuroblastoma cells cluster with fibrils (Wright-Giemsa stain, ×1,000). (B) Sequence visualization of enhancer of zeste homolog 2 (EZH2) gene showing a missense variant, c.2050C>T.

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