Table 1. Genetic subtypes of JMML I.... | American Society of Hematology

Table 1.

Genetic subtypes of JMML

I. Somatic PTPN11 mutation

• Rapidly fatal without allogeneic HSCT

• High probability of relapse

• Frequent acquisition of NF1 haploinsufficiency

II. Somatic NRAS mutation

• Heterogeneous subtype

• Rapid progress with high relapse rate after HSCT, typically in older children with high levels of HbF

• Indolent course with spontaneous regression, typically in infants or in cases with G12S mutation

III. Somatic KRAS mutation

• Mostly infants

• Frequent association with monosomy 7

• Aggressive at presentation but low risk of relapse after allogeneic HSCT

IV. JMML in children with NF1

• Older age at diagnosis

• Higher platelet count

• Higher percentage of BM blasts

• Fatal without allogeneic HSCT

V. JMML in children with germline CBL mutation

• Loss of CBL heterozygosity in hematopoietic cells

• Absence of concomitant mutations

• Value of allogeneic HSCT uncertain

• Frequent occurrence of mixed chimerism after allogeneic HSCT