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.

Autor:	Fabozzi F; Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Carrozzo R; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Lodi M; Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Di Giannatale A; Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Cipri S; Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Rosignoli C; Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Giovannoni I; Pathology Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Stracuzzi A; Pathology Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Rizza T; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Montante C; Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Di Nottia M; Unit of Cell Biology and Diagnosis of Mitochondrial Disorders, Neuromuscular Disorders Research Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Galaverna F; Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Del Baldo G; Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Del Bufalo F; Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Mastronuzzi A; Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., De Ioris MA; Hematology/Oncology, Cell and Gene Therapy, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Jazyk:	angličtina
Zdroj:	Frontiers in oncology [Front Oncol] 2024 Jan 08; Vol. 13, pp. 1324013. Date of Electronic Publication: 2024 Jan 08 (Print Publication: 2023).
DOI:	10.3389/fonc.2023.1324013
Abstrakt:	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 ( SHDC) 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. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision. (Copyright © 2024 Fabozzi, Carrozzo, Lodi, Di Giannatale, Cipri, Rosignoli, Giovannoni, Stracuzzi, Rizza, Montante, Agolini, Di Nottia, Galaverna, Del Baldo, Del Bufalo, Mastronuzzi and De Ioris.)
Databáze:	MEDLINE
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