Bone marrow trephine H&E (10 x hpf)

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Bone marrow trephine H&E (10 x hpf)

#00065621

Author: Rosslyn de Wet MBBCh FRACP FRCPA; Jill Finlayson MBCHB FRCPA; Tina Carter MBBS FRACP FRCPA; Carly George MBBS FRACP FRCPA
Category: Bone marrow failure > Severe Congenital Neutropenia including Kostmann Syndrome
Published Date: 05/06/2025

This is the bone marrow trephine of a 4-year-old girl with severe congenital neutropenia and confirmed heterozygous pathogenic ELANE variant (ELANE exon 5 c.659G>A p.Arg220Gln). She had been on G-CSF for 2 years when she presented to our hospital.

The neutrophil count was 0.8 x 10⁹/L at the time of the bone marrow biopsy. The trephine showed hypocellular granulopoiesis with an expanded paratrabecular population of immature granulocytes (as demonstrated by the myeloperoxidase stain) and reduced segmented forms.

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