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Pineocytoma in a child with Pallister–Killian syndrome: a case report and review of the literature

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Abstract

Pallister–Killian syndrome (PKS; OMIM #601803) is a rare genetic disorder typically characterized by developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome 12p. Here, we report a 27-month-old girl with a prenatal diagnosis of PKS and a histopathological diagnosis of pineocytoma.

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Data availability

The data that support the findings of this study are available from the corresponding author upon reasonable request.

References

  1. Blyth M et al (2015) Pallister-Killian syndrome: a study of 22 British patients. J Med Genet 52(7):454–464

    Article  CAS  PubMed  Google Scholar 

  2. Pallister PD (1977) The Pallister mosaic syndrome. Birth Defects Orig Artic Ser 13(3B):103–110

    CAS  PubMed  Google Scholar 

  3. Teschler-Nicola M, Killian W (1981) Case report 72: mental retardation, unusual facial appearance, abnormal hair. Synd Ident 7:6–7

    Google Scholar 

  4. Arghir A et al (2021) Pallister-Killian syndrome versus trisomy 12p-a clinical study of 5 new cases and a literature review. Genes (Basel) 12(6):811

    Article  CAS  PubMed  Google Scholar 

  5. Mauceri L et al (2000) Pallister-Killian syndrome: case report with pineal tumor. Am J Med Genet 95(1):75–78

    Article  CAS  PubMed  Google Scholar 

  6. Izumi K et al (2023) Co-occurrence of Pallister-Killian syndrome and Burkitt lymphoma in a patient with near-normal neurocognitive development. Mol Syndromol 14(4):303–309

    Article  PubMed  PubMed Central  Google Scholar 

  7. Izumi K et al (2012) Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region. Am J Med Genet A 158A(12):3033–3045

    Article  PubMed  Google Scholar 

  8. Bohlander SK (2005) ETV6: a versatile player in leukemogenesis. Semin Cancer Biol 15(3):162–174

    Article  CAS  PubMed  Google Scholar 

  9. Haigis KM (2017) KRAS alleles: the devil is in the detail. Trends Cancer 3(10):686–697

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Lee M, Pellegeta NS (2013) Multiple endocrine neoplasia syndromes associated with mutation of p27. J Endocrinol Invest 36(9):781–787

    CAS  PubMed  Google Scholar 

  11. Höglund M et al (1996) Molecular characterization of 12p abnormalities in hematologic malignancies: deletion of KIP1, rearrangement of TEL, and amplification of CCND2. Blood 87(1):324–330

    Article  PubMed  Google Scholar 

  12. Teater M (2018) AICDA drives epigenetic heterogeneity and accelerates germinal center-derived lymphomagenesis. Nat Commun 9(1):222

    Article  PubMed  PubMed Central  Google Scholar 

  13. Freitag CE et al (2021) Assessment of isochromosome 12p and 12p abnormalities in germ cell tumors using fluorescence in situ hybridization, single-nucleotide polymorphism arrays, and next-generation sequencing/mate-pair sequencing. Hum Pathol 112:20–34

    Article  CAS  PubMed  Google Scholar 

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Acknowledgements

The authors would like to thank all the physicians, psychologists, and nurses involved in the clinical management of these children.

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Authors and Affiliations

  1. Neurooncology Unit, Department of Pediatric Oncology, Santobono-Pausilipon Children’s Hospital, Naples, Italy

    Lucia De Martino & Lucia Quaglietta

  2. Neuroradiology Unit, Department of Neurosciences, Santobono-Pausilipon Children’s Hospital, Naples, Italy

    Carmela Russo

  3. Patology Unit, Department of Pathology, Santobono-Pausilipon Children’s Hospital, Naples, Italy

    Delfina Bifano

  4. Pediatric Neurosurgery Unit, Department of Pediatric Neurosciences, Santobono-Pausilipon Children’s Hospital, Naples, Italy

    Pietro Spennato & Giuseppe Cinalli

Authors
  1. Lucia De Martino
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  2. Carmela Russo
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  3. Delfina Bifano
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  4. Lucia Quaglietta
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  5. Pietro Spennato
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  6. Giuseppe Cinalli
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Contributions

Conceptualization, L.D.M. and P.S.; data curation, L.D.M., L.Q., D.B., C.R., and P.S.; formal analysis, L.D.M. and D.B.; investigation, G.C., C.R., P.S., and D.B.; methodology, L.D.M. and P.S.; resources, G.C.; supervision, G.C. and P.S.; writing original draft, L.D.M., C. R., and D.B.; writing, review, and editing, S.P., L.Q., and G.C. All authors have read and agreed to the published version of the manuscript.

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Correspondence to Lucia De Martino.

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De Martino, L., Russo, C., Bifano, D. et al. Pineocytoma in a child with Pallister–Killian syndrome: a case report and review of the literature. Childs Nerv Syst (2024). https://doi.org/10.1007/s00381-024-06426-4

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  • DOI: https://doi.org/10.1007/s00381-024-06426-4

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