Literature DB >> 25705862

Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCL.

Sarah Bieser1, Martin Reis, Miguel Guzman, Karen Gauvain, Samer Elbabaa, Stephen R Braddock, Mohamed S Abdel-Baki.   

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with an unknown etiology. Since 1970, around 60 cases have been reported in English literature. ECCL is usually classified by cutaneous lesions and non-progressive intracranial or spinal lipomas; however three cases of ECCL associated with low grade glioma (LGG) have been described. We report on the fourth case of LGG in a patient with ECCL; a grade II pilocytic astrocytoma with pilomyxoid features in a 3-month-old male, the youngest in literature.
© 2015 Wiley Periodicals, Inc.

Entities:  

Keywords:  encephalocraniocutaneous; glioma; lipomatosis

Mesh：

Year:  2015        PMID： 25705862     DOI： 10.1002/ajmg.a.37017

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


  5 in total

1.  Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

Authors:  James T Bennett; Tiong Yang Tan; Diana Alcantara; Martine Tétrault; Andrew E Timms; Dana Jensen; Sarah Collins; Malgorzata J M Nowaczyk; Marjorie J Lindhurst; Katherine M Christensen; Stephen R Braddock; Heather Brandling-Bennett; Raoul C M Hennekam; Brian Chung; Anna Lehman; John Su; SuYuen Ng; David J Amor; Jacek Majewski; Les G Biesecker; Kym M Boycott; William B Dobyns; Mark O'Driscoll; Ute Moog; Laura M McDonell
Journal:  Am J Hum Genet       Date:  2016-03-03       Impact factor: 11.025

2.  Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: report of additional three cases.

Authors:  O Kocak; C Yarar; K B Carman
Journal:  Childs Nerv Syst       Date:  2015-08-01       Impact factor: 1.475

3.  Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies.

Authors:  Oscar F Chacon-Camacho; Daniel Lopez-Moreno; Martha A Morales-Sanchez; Enriqueta Hofmann; Michelle Pacheco-Quito; Ilse Wieland; Vianney Cortes-Gonzalez; Cristina Villanueva-Mendoza; Martin Zenker; Juan Carlos Zenteno
Journal:  Mol Genet Genomic Med       Date:  2019-03-19       Impact factor: 2.183

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

Authors:  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
Journal:  Acta Neuropathol       Date:  2018-08-24       Impact factor: 17.088

Review 5.  FGFR- gene family alterations in low-grade neuroepithelial tumors.

Authors:  Tejus A Bale
Journal:  Acta Neuropathol Commun       Date:  2020-02-21       Impact factor: 7.801
  5 in total

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