2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Wilms tumor in a patient with <em>FBXW7</em>-related neurodevelopmental syndrome

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This case report describes a patient with Wilms tumor, a type of pediatric renal neoplasm, in association with FBXW7-related neurodevelopmental syndrome. Wilms tumor is commonly caused by mutations in tumor predisposing genes, some of which are also associated with intellectual disability (ID). FBXW7 is a tumor suppressor gene and a recently recognized causative gene for a neurodevelopmental syndrome.<br /><br />The patient in this case was a three-year-old boy who had developmental delay (DD) and Wilms tumor. He had a truncating variant in the WD40 repeat domain of FBXW7. The patient's elder sister also had mild DD. He underwent surgery to remove the tumor and received chemotherapy according to the standard protocol. He was referred to the genetic clinic due to the combination of Wilms tumor and DD/ID.<br /><br />FBXW7-related neurodevelopmental syndrome is characterized by DD/ID, macrocephaly, and hypotonia. Only one other patient with this syndrome has been reported to develop a Wilms tumor. The causative variants in FBXW7-related syndrome are clustered in the WD40 repeat domain.<br /><br />Early diagnosis and surveillance of Wilms tumor may be necessary for the management of FBXW7-related neurodevelopmental syndrome. Additional cases of this syndrome will provide more information about the associated health issues and the range of symptoms.<br /><br />The study identified a novel truncating variant in the WD40 domain of FBXW7 in this patient through chromosomal microarray and trio exome sequencing. The detected mutation was not present in several databases. The study was supported by research grants.<br /><br />In summary, this case report highlights a patient with Wilms tumor and FBXW7-related neurodevelopmental syndrome. It emphasizes the importance of early diagnosis and surveillance for Wilms tumor in individuals with this syndrome.

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Presenting Author - Yoko Saito, MD; Co-Author - Yukiko Kuroda, MD, PhD; Co-Author - Dai Keino, MD, PhD; Co-Author - Yumi Enomoto, PhD; Co-Author - Takuya Naruto, PhD; Co-Author - Masakatsu Yanagimachi, MD, PhD; Co-Author - Kenji Kurosawa, MD, PhD;

Meta Tag

Cancer Cytogenetics

Exome sequencing

Intellectual disability

Co-Author Yukiko Kuroda, MD, PhD

Co-Author Dai Keino, MD, PhD

Co-Author Yumi Enomoto, PhD

Co-Author Takuya Naruto, PhD

Co-Author Masakatsu Yanagimachi, MD, PhD

Co-Author Kenji Kurosawa, MD, PhD

Presenting Author Yoko Saito, MD

Keywords

Wilms tumor

pediatric renal neoplasm

FBXW7-related neurodevelopmental syndrome

tumor predisposing genes

intellectual disability

developmental delay

truncating variant

WD40 repeat domain

macrocephaly

hypotonia