What question did this study set out to answer?

To describe the clinical course, cytogenetic evolution, and therapeutic response to G-CSF withdrawal in an adolescent with severe congenital neutropenia who developed acute myeloid leukemia.

February 1, 2026eJHaemOpen Access

Leukemic Regression After G‐CSF Withdrawal in Severe Congenital Neutropenia

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Authors

ARAgnese RovetaMeyer Children's Hospital ITIrene TrambustiMeyer Children's Hospital MTMarco TelliniMeyer Children's Hospital

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Implication

Case report reveals peripheral blast clearance after G-CSF withdrawal in severe congenital neutropenia, indicating drug cessation may stabilize patients prior to stem cell transplantation.

Key Points

To describe the clinical course, cytogenetic evolution, and therapeutic response to G-CSF withdrawal in an adolescent with severe congenital neutropenia who developed acute myeloid leukemia.
Monitored an SCN patient harboring an ELANE mutation (c.1851 G>A) receiving long-term G-CSF (1 to 4.45 µg/kg/day) from age 3 to 16.
Performed serial bone marrow evaluations, cytogenetic karyotyping, FISH for RUNX1 rearrangements, and next-generation amplicon sequencing of CSF3R exon 7.
Assessed hematologic response after G-CSF withdrawal followed by T-cell-depleted haploidentical allogeneic hematopoietic stem cell transplantation.
Following G-CSF dose escalation to 4.45 µg/kg/day, the patient acquired a 7q deletion, transient t(4p;21q) involving RUNX1, an expanded CSF3R mutant clone (16%), and acute myeloid transformation with 50% bone marrow blasts and 45% peripheral blasts.
Discontinuation of G-CSF resulted in total peripheral blast clearance within two weeks and a rapid reduction of bone marrow blasts from 50% to 20% at three weeks.
Haploidentical stem cell transplantation following blast reduction established full donor chimerism with sustained normal neutrophil counts through four years of follow-up.

Cite This Study

Roveta et al. (2026) studied this question.

synapsesocial.com/papers/6a9d59478abc1d8b83a4bac2 https://doi.org/10.1002/jha2.70238

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Implication

Case report reveals peripheral blast clearance after G-CSF withdrawal in severe congenital neutropenia, indicating drug cessation may stabilize patients prior to stem cell transplantation.

Leukemic Regression After G‐CSF Withdrawal in Severe Congenital Neutropenia

Discussion

Member takes

Implication

Key Points

Cite This Study

Leukemic Regression After G‐CSF Withdrawal in Severe Congenital Neutropenia

Discussion

Member takes

Implication

Key Points

Cite This Study

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