Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.

Autor:	Izumi K; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ganetzky RD; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Wertheim GBW; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Skraban CM; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Bedoukian EC; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wilkens A; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Fincher C; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Thomas NH; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ginsberg JP; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Divisions of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rheingold SR; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Divisions of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Conlin LK; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Deardorff MA; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Jazyk:	angličtina
Zdroj:	Molecular syndromology [Mol Syndromol] 2023 Aug; Vol. 14 (4), pp. 303-309. Date of Electronic Publication: 2023 May 05.
DOI:	10.1159/000530197
Abstrakt:	Background: Pallister-Killian syndrome (PKS) is typically recognized by its features that include developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome 12p. Case Presentation: Here, we report a patient with PKS who was subsequently diagnosed with Burkitt lymphoma. Following the successful treatment of lymphoma, this patient demonstrated very mild intellectual disability despite the diagnosis of PKS, which is usually associated with severe developmental delay. Discussion: This is the first reported patient with PKS and a hematologic malignancy. Although there is no significant reported association of tetrasomy 12p with cancer, the co-occurrence of two rare findings in this patient suggests a potential relationship. The localization of AICDA , a gene for which overexpression has been implicated in promoting t(8;14) noted in our patient's lymphoma, raises a potential mechanism of pathogenesis. In addition, this case indicates that children with PKS can demonstrate near-normal cognitive development. Competing Interests: The authors have no conflicts of interest to declare. (© 2023 S. Karger AG, Basel.)
Databáze:	MEDLINE
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