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Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation

Leukemia volume 23, pages 804–806 (2009)Cite this article

The mother (I:2) presented with AML in 1989, at the age of 23 years. The hemogram showed a normal white blood cells count (6.5 G/l) including 72% of blasts. Bone marrow was infiltrated by 95% of myeloperoxidase-positive blasts, some of them containing an Auer rod, corresponding to a M1-AML in the French–American–British classification. Blast cells were positive for CD33, CD13, CD34, CD7 and HLA-DR. Cytogenetic evaluation revealed no abnormalities. She achieved complete remission (CR) after induction chemotherapy and received two consolidation courses. She was in persistent CR during 14 years and gave birth to two children after 4 and 9 years of CR. She had a relapse with the same morphological and phenotypical profile in 2003. She received chemotherapy to obtain second CR and had autologous bone marrow transplantation. During her treatment for relapse, her son, a 5-year-old-boy (II:2) was diagnosed with M1-AML as well. Blast cells were positive for CD33, CD13, CD65, CD34, CD45 and CD7, but HLA-DR negative. Cytogenetic analysis showed no abnormalities. Physical examination of both patients (I:2 and II:2) revealed no dysmorphic features. Patient II:2 achieved a CR after the first course of chemotherapy and received three consolidation courses. He had a bone marrow relapse after 13 months of CR. He entered a second CR and was allografted with umbilical cord blood-derived stem cells in 2005. He is currently alive in second CR and is healthy. After 3 years of CR, his mother had a second relapse. She has presented a stable disease for 16 months.

Bone marrow cells collected at the time of AML diagnosis and peripheral blood cells collected during CR were available for patients I:2 and II:2. In addition, peripheral blood cells collected 2 years after allogeneic stem cell transplantation were available for patient II:2. The two other family members declined testing. Informed consent was obtained for both patients to use their samples for molecular analysis. Genomic DNA was extracted using standard procedures.

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Acknowledgements

This work was supported by the North West Canceropole (Onco-Hematology axis).

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Authors and Affiliations

  1. Laboratoire d'Hématologie, Centre de Biologie-Pathologie, CHRU de Lille, Lille, France

    A Renneville, N Philippe, V Biggio & C Preudhomme

  2. Institut d'Hématologie et Oncologie Pédiatrique, Hospices civils de Lyon, Lyon, France

    V Mialou & Y Bertrand

  3. Laboratoire d'Hématologie, Hôpital Edouard Herriot, Lyon, France

    S Kagialis-Girard

  4. Laboratoire de Biologie Cellulaire, Centre de Biologie Est, Lyon, France

    M-T Zabot

  5. Service d'Hématologie Clinique, Hôpital Edouard Herriot, Lyon, France

    X Thomas

  6. INSERM, Unité 837, Institut de Recherche sur le Cancer de Lille, Lille, France

    A Renneville & C Preudhomme

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  1. A Renneville
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Correspondence to C Preudhomme.

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Renneville, A., Mialou, V., Philippe, N. et al. Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation. Leukemia 23, 804–806 (2009). https://doi.org/10.1038/leu.2008.294

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