Molecular Defects in Mastocytosis : KIT and Beyond KIT - 17/04/14

Doi : 10.1016/j.iac.2014.01.009

Siham Bibi, PhD ^a, Florent Langenfeld, PhD ^a, Sylvie Jeanningros, MSc ^a, Fabienne Brenet, PhD ^b,^c,^d,^e, Erinn Soucie, PhD ^b,^c,^d,^e, Olivier Hermine, MD, PhD ^f,^g, Gandhi Damaj, MD ^g,^h, Patrice Dubreuil, PhD ^b,^c,^d,^e,^g, Michel Arock, PharmD, PhD ^a,^⁎
^a Molecular Oncology and Pharmacology, LBPA CNRS UMR8113, Ecole Normale Supérieure de Cachan, 61, Avenue du Président Wilson, Cachan 94235, France
^b Signaling, Hematopoiesis and Mechanism of Oncogenesis, Inserm U1068, CRCM, 27, Bd Leï Roure BP 30059, Marseille 13009, France
^c Institut Paoli-Calmettes, 232, Bd Sainte-Marguerite BP 156, Marseille 13009, France
^d Aix-Marseille University, UM 105, 27, Bd Leï Roure BP 30059, Marseille 13284, France
^e CNRS, UMR7258, CRCM, 27, Bd Leï Roure BP 30059, Marseille 13009, France
^f Clinical Hematology Department, Faculty of Medicine and AP-HP Necker-Enfants Malades, Paris Descartes University, 12, Rue de l'École de Médecine, 75006, Paris, France
^g Faculty of Medicine et AP-HP Necker-Enfants Malades, Mastocytosis Reference Center, 149, Rue de Sèvres, 75015 Paris, Paris Cedex 15 75743, France
^h Clinical Hematology Department, Hôpital Sud, CHU Amiens, Ave René Laënnec - Salouël, Amiens 80054, France

^∗Corresponding author.

Résumé

In all variants of mastocytosis, activating KIT mutations are frequently found. In adults, neoplastic mast cells (MCs) cells show the KIT mutation D816V, whereas in children, MCs invading the skin are frequently positive for non-KIT D816V mutations. The clinical course and prognosis of the disease vary among patients with systemic mastocytosis (SM). Additional KIT-independent molecular defects might cause progression. Additional oncogenic lesions have recently been identified in advanced SM. In advanced SM the presence of additional genetic lesions or altered signaling worsening the prognosis might lead to the use of alternative therapies such as combined antisignaling targeted treatments or stem cell transplantation.

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Keywords : Systemic mastocytosis, KIT, Mutation, Signaling, TET2, ASXL1, Spliceosome, Targeted therapy

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	Disclosure: O. Hermine and P. Dubreuil receive research funding and honorarium from AB Science. Other authors declare no competing financial interests.
	M. Arock is supported by Fondation de France; F. Langenfeld is supported by a fellowship from Ligue Nationale Contre le Cancer; P. Dubreuil is supported by La Ligue Nationale Contre le Cancer (équipe labellisée) and INCa; F. Brenet is supported by a fellowship from Fondation pour la Recherche Médicale and E. Soucie by a fellowship from Fondation de France.

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Vol 34 - N° 2

P. 239-262 - mai 2014 Retour au numéro

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Functional Deregulation of KIT : Link to Mast Cell Proliferative Diseases and Other Neoplasms
Glenn Cruse, Dean D. Metcalfe, Ana Olivera

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Molecular Defects in Mastocytosis : KIT and Beyond KIT - 17/04/14

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