Long-term use of pegfilgrastim in children with severe congenital neutropenia: clinical and pharmacokinetic data

The genomics of inherited bone marrow failure: from mechanism to the clinic

“…Severe congenital neutropenia is managed through administration of granulocyte colony‐stimulating factor (G‐CSF) to increase neutrophil counts enough and prevent infection (Fioredda et al , ). Notably, acquired pathogenic variants in CSF3R, the gene encoding the G‐CSF receptor, have been identified in a subset of patients with SCN.…”

Diagnosis and management of neutropenia in children: The approach of the Study Group on Neutropenia and Marrow Failure Syndromes of the Pediatric Italian Hemato‐Oncology Association (Associazione Italiana Emato‐Oncologia Pediatrica ‐ AIEOP)

“…48,49 More recently, a form of filgrastim linked to polyethylene glycol, named pegfilgrastim, was introduced in clinical practice, mostly in oncological settings and for use in stem cell mobilization of stem cells. [50][51][52] Data on pegfilgrastim in noncancer-related neutropenia are scarce; however, it appears promising in some contexts, such as SCN, in which standard G-CSF is not effective or tolerated. 50 However, larger studies with longer follow-up are required to understand the impact of pegfilgrastim on leukemogenesis and other late effects.…”

“…[50][51][52] Data on pegfilgrastim in noncancer-related neutropenia are scarce; however, it appears promising in some contexts, such as SCN, in which standard G-CSF is not effective or tolerated. 50 However, larger studies with longer follow-up are required to understand the impact of pegfilgrastim on leukemogenesis and other late effects.…”

“…Some authors suggest [50][51][52] with an acceptable side effects profile, thus representing an alternative option in these patients. 50…”

Efficacy of Low-Dose rhGM-CSF Treatment in a Patient With Severe Congenital Neutropenia Due to CSF3R Deficiency: Case Report of a Novel Biallelic CSF3R Mutation and Literature Review

“…The major types of SCN (SCN types 1-8) are caused by mutations in the following genes: ELANE, GFI1, HAX1, G6PC3, VPS45, JAGN1, CSF3R, or SRP54 (1,3). Most patients with SCN can be effectively managed with injections of granulocyte colony-stimulating factor (G-CSF) injections, which stimulate cell proliferation and differentiation into mature neutrophilic granulocytes (4)(5)(6). However, a small proportion of SCN patients with G-CSF receptor deficiency (i.e., due to biallelic loss-of-function mutations in the CSF3R gene) are refractory to G-CSF but respond to granulocyte macrophage colony-stimulating factor (GM-CSF) treatment (7,8).…”