1.
J Pediatr
; 162(6): 1285-8, 1288.e1, 2013 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23403250
RESUMO
A small fraction of cases of juvenile myelomonocytic leukemia (JMML) develop massive disease activation. Through genomic analysis of JMML, which developed in an individual with mosaicism for oncogenic KRAS mutation with rapid progression, we identified acquired uniparental disomy at 12p. We demonstrated that duplication of oncogenic KRAS is associated with rapid JMML progression.
Assuntos
Leucemia Mielomonocítica Juvenil/genética , Leucemia Mielomonocítica Juvenil/patologia , Vírus Oncogênicos/genética , Proteínas Proto-Oncogênicas/genética , Dissomia Uniparental/genética , Proteínas ras/genética , Humanos , Lactente , Masculino , Mosaicismo , Mutação , Proteínas Proto-Oncogênicas p21(ras)
2.
J Pediatr
; 155(6): 937-9, 2009 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19914434
RESUMO
We report a case of hepatoblastoma that developed in a child with Sotos syndrome, an overgrowth syndrome with an increased risk of neoplasms. Genome-wide analysis of copy number alterations showed a gain of chromosome 2, uniparental disomy of 18q, and microdeletion of 5q35.