Article
Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
Pediatric blood & cancer - 1 Jan 2016
Heide Solveig, Masliah-Planchon Julien, Isidor Bertrand, Guimier Anne, Bodet Damien, Coze Carole, Deville Anne, Thebault Estelle, Pasquier Corinne Jeanne, Cassagnau Elisabeth, Pierron Gaelle, Clément Nathalie, Schleiermacher Gudrun, Amiel Jeanne, Delattre Olivier, Peuchmaur Michel, Bourdeaut Franck
Abstract excerpt
BACKGROUND: Germline non-polyalanine repeat expansion mutations in PHOX2B (PHOX2B NPARM) predispose to peripheral neuroblastic tumors (PNT), frequently in association with other neurocristopathies: Hirschsprung disease (HSCR) or congenital central hypoventilation syndrome (CCHS). Although PHOX2B polyalanine repeat expansions predispose to a low incidence of benign PNTs, the oncologic phenotype associated with...
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