Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas

Elvis Terci Valera; Melissa K McConechy; Tenzin Gayden; Barbara Rivera; David T W Jones; Andrea Wittmann; HyeRim Han; Eric Bareke; Hamid Nikbakht; Leonie Mikael; Rosane Gomes Queiroz; Veridiana Kiill Suazo; Ji Hoon Phi; Seung-Ki Kim; Sung-Hye Park; Raita Fukaya; Mi-Sun Yum; Tae-Sung Ko; Ricardo Santos de Oliveira; Helio Rubens Machado; María Sol Brassesco; Antonio Carlos do Santos; Gustavo Novelino Simão; Leandra Náira Zambelli Ramalho; Luciano Neder; Carlos Alberto Scrideli; Luiz Gonzaga Tone; Jacek Majewski; Nada Jabado

doi:10.1007/s00401-018-1898-8

Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas

Acta Neuropathol. 2018 Oct;136(4):657-660. doi: 10.1007/s00401-018-1898-8. Epub 2018 Aug 24.

Authors

Elvis Terci Valera^{1

2}, Melissa K McConechy³, Tenzin Gayden⁴, Barbara Rivera³, David T W Jones⁵, Andrea Wittmann⁵, HyeRim Han³, Eric Bareke⁶, Hamid Nikbakht⁶, Leonie Mikael⁴, Rosane Gomes Queiroz⁷, Veridiana Kiill Suazo⁷, Ji Hoon Phi⁸, Seung-Ki Kim⁸, Sung-Hye Park⁹, Raita Fukaya^{10

11}, Mi-Sun Yum¹², Tae-Sung Ko¹², Ricardo Santos de Oliveira¹³, Helio Rubens Machado¹³, María Sol Brassesco¹⁴, Antonio Carlos do Santos¹⁵, Gustavo Novelino Simão¹⁵, Leandra Náira Zambelli Ramalho¹⁶, Luciano Neder¹⁶, Carlos Alberto Scrideli⁷, Luiz Gonzaga Tone⁷, Jacek Majewski^{3

6}, Nada Jabado^{3

4}

Affiliations

¹ Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, HC Criança-Av. Bandeirantes, 3900, Ribeirão Preto, SP, CEP 14048-900, Brazil. valeraet@gmail.com.
² Department of Human Genetics, McGill University, Montreal, QC, Canada. valeraet@gmail.com.
³ Department of Human Genetics, McGill University, Montreal, QC, Canada.
⁴ Department of Pediatrics, The Research Institute of the McGill University Health Center, McGill University, Montreal, QC, H4A 3J1, Canada.
⁵ Pediatric Glioma Research Group, Hopp Children's Cancer Center, NCT Heidelberg (KiTZ) and German Cancer Research Center (DKFZ), Heidelberg, Germany.
⁶ McGill University and Genome Quebec Innovation Center, Montreal, QC, Canada.
⁷ Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, HC Criança-Av. Bandeirantes, 3900, Ribeirão Preto, SP, CEP 14048-900, Brazil.
⁸ Division of Pediatric Neurosurgery, Seoul National University Children's Hospital, Seoul, Republic of Korea.
⁹ Department of Pathology, Seoul National University Children's Hospital, Seoul, Republic of Korea.
¹⁰ Department of Neurosurgery, Shizuoka City Shimizu Hospital, Shizuoka, Japan.
¹¹ Department of Neurosurgery, Fuji Hospital, Aichi, Japan.
¹² Division of Pediatric Neurology, Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.
¹³ Division of Pediatric Neurosurgery, Department of Surgery and Anatomy, University Hospital, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, SP, Brazil.
¹⁴ Department of Biology, Faculty of Philosophy, Sciences and Letters at Ribeirão Preto, University of São Paulo, Ribeirão Preto, SP, Brazil.
¹⁵ Department of Image Science and Medical Physics Center, Internal Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil.
¹⁶ Department of Pathology, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.

No abstract available

Keywords: Children; Encephalocraniocutaneous lipomatosis; FGFR1; RASopathies, genetics, brain tumors.

Publication types

Letter
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Astrocytoma / genetics*
Astrocytoma / pathology*
Brain Neoplasms / genetics*
Brain Neoplasms / pathology*
Child
Child, Preschool
DNA Methylation / genetics*
Exome / genetics*
Exome Sequencing
Eye Diseases / genetics*
Eye Diseases / pathology*
Female
Gene Duplication
Genes, ras / genetics
High-Throughput Nucleotide Sequencing
Humans
Lipomatosis / genetics*
Lipomatosis / pathology*
Male
Neoplasm Proteins / genetics
Neurocutaneous Syndromes / genetics*
Neurocutaneous Syndromes / pathology*
Receptor, Fibroblast Growth Factor, Type 1 / genetics

Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas

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