دورية أكاديمية
أعرض في EDS

PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.

التفاصيل البيبلوغرافية
العنوان: PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients.
المؤلفون: Martín-Valbuena J; Department of Pediatrics, University Hospital of Salamanca, Salamanca, Spain., Gestoso-Uzal N; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain.; Department of Medicine, University of Salamanca, Salamanca, Spain., Justel-Rodríguez M; Department of Pediatrics, University Hospital of Salamanca, Salamanca, Spain., Isidoro-García M; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain.; Clinical Biochemistry Department, University Hospital of Salamanca, Salamanca, Spain., Marcos-Vadillo E; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain.; Clinical Biochemistry Department, University Hospital of Salamanca, Salamanca, Spain., Lorenzo-Hernández SM; Clinical Biochemistry Department, University Hospital of Salamanca, Salamanca, Spain., Criado-Muriel MC; Department of Pediatrics, University Hospital of Salamanca, Salamanca, Spain. mccriado@saludcastillayleon.es.; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain. mccriado@saludcastillayleon.es.; Department of Biomedical and Diagnostic Sciences, University of Salamanca, Salamanca, Spain. mccriado@saludcastillayleon.es., Prieto-Matos P; Department of Pediatrics, University Hospital of Salamanca, Salamanca, Spain.; Institute for Biomedical Research of Salamanca, IBSAL, Salamanca, Spain.; Department of Biomedical and Diagnostic Sciences, University of Salamanca, Salamanca, Spain.
المصدر: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2024 Jun; Vol. 40 (6), pp. 1689-1697. Date of Electronic Publication: 2024 Feb 26.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Springer International Country of Publication: Germany NLM ID: 8503227 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-0350 (Electronic) Linking ISSN: 02567040 NLM ISO Abbreviation: Childs Nerv Syst Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Berlin : Springer International, c1985-
مواضيع طبية MeSH: PTEN Phosphohydrolase*/genetics , Hamartoma Syndrome, Multiple*/genetics , Hamartoma Syndrome, Multiple*/diagnostic imaging, Humans ; Female ; Male ; Child ; Child, Preschool ; Adolescent ; Retrospective Studies ; Infant ; Mutation/genetics ; Megalencephaly/genetics ; Megalencephaly/diagnostic imaging
مستخلص: Objective: The aim of this study was to provide a full characterization of a cohort of 11 pediatric patients diagnosed with PTEN hamartoma tumor syndrome (PHTS).
Patients and Methods: Eleven patients with genetic diagnostic of PHTS were recruited between February 2019 and April 2023. Clinical, imaging, demographic, and genetic data were retrospectively collected from their hospital medical history.
Results: Regarding clinical manifestations, macrocephaly was the leading sign, present in all patients. Frontal bossing was the most frequent dysmorphism. Neurological issues were present in most patients. Dental malformations were described for the first time, being present in 27% of the patients. Brain MRI showed anomalies in 57% of the patients. No tumoral lesions were present at the time of the study. Regarding genetics, 72% of the alterations were in the tensin-type C2 domain of PTEN protein. We identified four PTEN genetic alterations for the first time.
Conclusions: PTEN mutations appear with a wide variety of clinical signs and symptoms, sometimes associated with phenotypes which do not fit classical clinical diagnostic criteria for PHTS. We recommend carrying out a genetic study to establish an early diagnosis in children with significant macrocephaly. This facilitates personalized monitoring and enables anticipation of potential PHTS-related complications.
(© 2024. The Author(s).)
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فهرسة مساهمة: Keywords: Children; Cowden syndrome; Genetics; Macrocephaly
المشرفين على المادة: 0 (PTEN protein, human)
تواريخ الأحداث: Date Created: 20240226 Date Completed: 20240522 Latest Revision: 20240529
رمز التحديث: 20240529
مُعرف محوري في PubMed: PMC11111493
DOI: 10.1007/s00381-024-06301-2
PMID: 38407606
قاعدة البيانات: MEDLINE
الوصف
تدمد:1433-0350
DOI:10.1007/s00381-024-06301-2