Case Report: A Safeguard in the Sea of Variants of Uncertain Significance: a Case Study on Child with High Risk Neuroblastoma and Acute Myeloid Leukemia

Overview

Journal Front Oncol

Specialty Oncology

Date 2024 Jan 23

PMID 38260858

Authors

Francesco Fabozzi

Rosalba Carrozzo

Mariachiara Lodi

Angela Di Giannatale

Selene Cipri

Chiara Rosignoli

Isabella Giovannoni

Alessandra Stracuzzi

Teresa Rizza

Claudio Montante

Emanuele Agolini

Michela Di Nottia

Federica Galaverna

Giada Del Baldo

Francesco Del Bufalo

Angela Mastronuzzi

Maria Antonietta De Ioris

Affiliations

Soon will be listed here.

Abstract

The increased availability of genetic technologies has significantly improved the detection of novel germline variants conferring a predisposition to tumor development in patients with malignant disease. The identification of variants of uncertain significance (VUS) represents a challenge for the clinician, leading to difficulties in decision-making regarding medical management, the surveillance program, and genetic counseling. Moreover, it can generate confusion and anxiety for patients and their family members. Herein, we report a 5-year-old girl carrying a VUS in the Succinate Dehydrogenase Complex Subunit C ( gene who had been previously treated for high-risk neuroblastoma and subsequently followed by the development of secondary acute myeloid leukemia. In this context, we describe how functional studies can provide additional insight on gene function determining whether the variant interferes with normal protein function or stability.

Citing Articles

Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach.

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PMID: 38893137 PMC: 11171256. DOI: 10.3390/cancers16112017.

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