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Transformation of severe congenital neutropenia to early acute lymphoblastic leukemia in a patient with HAX1 mutation and without G-CSF administration or receptor mutation

Leukemia volume 22, page 1797 (2008)Cite this article

The diagnosis of severe congenital neutropenia (SCN) is clinically based on profound persistent neutropenia (absolute neutrophil count (ANC). We previously reported on an SCN patient who transformed to CALLA+ B-cell acute lymphoblastic leukemia (ALL). No constitutive mutation in the ELA2 gene or acquired mutation in the G-CSFR gene could be detected.1

The female patient was the first-born child of parents who were second-degree relatives and she was diagnosed at the age of 5 months. There was no family history for an increased susceptibility to infection. The patient had a history of early onset of potentially life-threatening bacterial infection. Her white blood cell count was 6.3 × 109 l−1 and differential count was 1% neutrophils (ANC: 0.063 × 109 l−1), 30% monocytes, 63% lymphocytes and 6% eosinophils. Her bone marrow aspiration smear revealed apparent maturation arrest at promyelocyte stage. At 7 months of age, before initiation of granulocyte-colony stimulating factor (G-CSF) treatment, her peripheral blood revealed 20% lymphoblasts. Immunological and viral markers were normal and negative, respectively. Bone marrow and flow cytometric examination revealed 40–50% lymphoblasts, consistent with CALLA+ B-cell ALL (pre-B). The patient attained remission following induction therapy (St Jude Total XI study ALL protocol). She responded to G-CSF treatment but died due to septicemia during maintenance chemotherapy.

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References

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Authors and Affiliations

  1. Department of Pediatric Hematology, Hacettepe University Medical Center, Ankara, Turkey

    S Yetgin

  2. Oncology State Hospital, Demet Evler, Ankara, Turkey

    L Olcay

  3. Department of Pediatric Hematology, Harran University Urfa, Sanliurfa, Turkey

    A Koç

  4. Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany

    M Germeshausen

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  1. S Yetgin
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  2. L Olcay
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  3. A Koç
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  4. M Germeshausen
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Correspondence to S Yetgin.

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Yetgin, S., Olcay, L., Koç, A. et al. Transformation of severe congenital neutropenia to early acute lymphoblastic leukemia in a patient with HAX1 mutation and without G-CSF administration or receptor mutation. Leukemia 22, 1797 (2008). https://doi.org/10.1038/leu.2008.64

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