Mastocytosis is a clonal disorder characterized by the accumulation of mast cells in the skin and, less frequently, in other organs. The disease is limited to the skin in children and may occur in one of three cutaneous variants: maculopapular cutaneous mastocytosis (MPCM), diffuse cutaneous mastocytosis (DCM) and mastocytoma. Systemic mastocytosis (SM) typically occurs in adults with KIT D816V mutation (3). Additional genetic mutations (TET2, N-RAS, SF3B1, ASXL1, etc.) have been detected using NGS in adults with mastocytosis (4). Currently, there is no data concerning the use of NGS in pediatric mastocytosis.
P1006: NEXT GENERATION SEQUENCING (NGS) IN PEDIATRIC MASTOCYTOSIS / Angi, A.; Bianchi, Simona; Palumbo, Giona.; Filipponi, V.; Rousseau, M.; Moleti, M. L.; Giona, F.. - In: HEMASPHERE. - ISSN 2572-9241. - 6:(2022), pp. 896-897. [10.1097/01.HS9.0000846892.58976.c0]
P1006: NEXT GENERATION SEQUENCING (NGS) IN PEDIATRIC MASTOCYTOSIS
Angi, A.;Bianchi, Simona;Filipponi, V.;Rousseau, M.;Moleti, M. L.;Giona, F.
2022
Abstract
Mastocytosis is a clonal disorder characterized by the accumulation of mast cells in the skin and, less frequently, in other organs. The disease is limited to the skin in children and may occur in one of three cutaneous variants: maculopapular cutaneous mastocytosis (MPCM), diffuse cutaneous mastocytosis (DCM) and mastocytoma. Systemic mastocytosis (SM) typically occurs in adults with KIT D816V mutation (3). Additional genetic mutations (TET2, N-RAS, SF3B1, ASXL1, etc.) have been detected using NGS in adults with mastocytosis (4). Currently, there is no data concerning the use of NGS in pediatric mastocytosis.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
