Langerhans cell histiocytosis with BRAF p.N486_P490del or MAP2K1 p.K57_G61del treated by the MEK inhibitor trametinib.
Pediatr Blood Cancer
; 67(12): e28712, 2020 12.
Article
en En
| MEDLINE
| ID: mdl-32991018
ABSTRACT
Activating variants of the MAPK pathway have been found in some Langerhans cell histiocytosis (LCH) lesions. Inhibition of the MAPK pathway with trametinib (MEK inhibitor) has been shown to induce responses in LCH patients. Two adolescent males with LCH driven by BRAF p.N486_P490del have received trametinib for >1 year with no reactivation in one and partial response in another (including stable lung disease). A third male with neonatal LCH and MAP2K1p.K57_G61del had a complete response to trametinib with no active disease after 22 months. All patients continue on trametinib monotherapy with tolerable skin and creatine phosphokinase toxicity.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Piridonas
/
Pirimidinonas
/
Histiocitosis de Células de Langerhans
/
Eliminación de Gen
/
Proteínas Proto-Oncogénicas B-raf
/
MAP Quinasa Quinasa 1
/
Mutación
/
Antineoplásicos
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2020
Tipo del documento:
Article