Acute Lymphoblastic Leukemia in a Pediatric Patient With Turnpenny-Fry Syndrome.

Autor:	Patrício Rodrigues I; Pediatrics, Centro Hospitalar de Trás-os-Montes e Alto Douro, Vila Real, PRT., Teixeira B; Pediatrics, Centro Materno-Infantil do Norte, Centro Hospitalar e Universitário de Santo António, Porto, PRT., Capela AM; Medical Genetics, Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar Universitário de Santo António, Porto, PRT., Almeida M; Pediatric Oncology, Instituto Português de Oncologia do Porto Francisco Gentil, Porto, PRT., Falcão Reis C; Medical Genetics, Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar Universitário de Santo António, Porto, PRT.; Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Biomedical Sciences Institute, Porto University, Porto, PRT.; Life and Health Sciences Research Institute (ICVS), University of Minho, Campus de Gualtar, Braga, PRT.; ICVS/3B's, PT Government Associated Laboratory, Braga/Guimarães, PRT.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2024 Jan 28; Vol. 16 (1), pp. e53099. Date of Electronic Publication: 2024 Jan 28 (Print Publication: 2024).
DOI:	10.7759/cureus.53099
Abstrakt:	Turnpenny-Fry Syndrome (TPFS) is a rare genetic disorder characterized by a severe developmental delay and a distinctive facial gestalt. It is caused by mutations in the Polycomb Group Ring Finger Protein 2 (PCGF2) gene, which is also known to play a role in numerous tumor types. Up to date, there have been no published case reports of patients with TPFS and concomitant malignancies. The present case describes the clinical evaluation and follow-up of a male infant with severe global developmental delay (GDD) and a distinctive phenotype. At 4 years of age, clinical exome sequencing confirmed the diagnosis of TPFS. Posteriorly, at 5 years of age, the patient was also diagnosed with T-cell acute lymphoblastic leukemia (ALL). Given the scarce literature regarding this syndrome, the authors expect that this case report will provide valuable information that could improve the follow-up of patients with TPFS. Furthermore, this case highlights the necessity for the appropriate diagnosis of developmental disorders, to ensure adequate care, surveillance of comorbidities and proper genetic counselling. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2024, Patrício Rodrigues et al.)
Databáze:	MEDLINE
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