A child with juvenile myelomonocytic leukemia possessing a concurrent germline CBL mutation and a NF1 variant of uncertain significance: A rare case with a common problem in the era of high-throughput sequencing.
J Formos Med Assoc
; 120(4): 1148-1152, 2021 Apr.
Article
en En
| MEDLINE
| ID: mdl-32933826
ABSTRACT
Genetic changes in juvenile myelomonocytic leukemia (JMML) determine distinct subtypes, treatments, and outcomes. JMML with germline CBL mutation and somatic NRAS mutation possibly achieves spontaneous remission, but hematopoietic stem cell transplantation is indicated for other subtypes of JMML. We hereby report a child with JMML harboring a germline CBL mutation (c.1111T>C) and an NF1 variant (c.3352A>G) concurrently. After evaluation, we considered that the NF1 variant was not the major contributor. After one year of observation, this case had no signs of disease progression. This case highlights the importance of combining available evidence and clinical findings in caring for patients with unusual genomic variations.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trasplante de Células Madre Hematopoyéticas
/
Leucemia Mielomonocítica Juvenil
Límite:
Child
/
Humans
Idioma:
En
Revista:
J Formos Med Assoc
Asunto de la revista:
MEDICINA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Taiwán