A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia AML bearing monosomy 7 and translocation t3;8q26;q24 after 14 years of treatment with granulocyte colony-stimulating factor G-CSF: A case reporReportar como inadecuado




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Journal of Medical Case Reports

, 2:319

First Online: 30 September 2008Received: 11 June 2008Accepted: 30 September 2008DOI: 10.1186-1752-1947-2-319

Cite this article as: Schroeder, T., Hildebrandt, B., Mayatepek, E. et al. J Med Case Reports 2008 2: 319. doi:10.1186-1752-1947-2-319

Abstract

IntroductionGlycogen storage disease type Ib is an autosomal recessive transmitted disorder of glycogen metabolism caused by mutations in the glucose-6-phosphate translocase gene on chromosome 11q23 and leads to disturbed glycogenolysis as well as gluconeogenesis. Besides hepatomegaly, growth retardation, hypoglycemia, hyperlactatemia, hyperuricemia and hyperlipidemia, patients suffer from neutropenia associated with functional defects predisposing for severe infections. In order to attenuate these complications, long-term treatment with granulocyte colony-stimulating factor is common but this is associated with an increased risk for acute myeloid leukemia or myelodysplastic syndromes in patients with inherited bone marrow failures such as severe congenital neutropenia. Onset of these myeloid malignancies is linked to cytogenetic aberrations involving chromosome 7. In addition, granulocyte colony-stimulating factor is known to stimulate proliferation of monosomy 7 cells in vitro. To our knowledge, we report for the first time a case report of a patient with glycogen storage disease type Ib, who developed acute myeloid leukemia with a classical monosomy 7 and acute myeloid leukemia-associated translocation t3;8q26;q24 after 14 years of continuous treatment with granulocyte colony-stimulating factor.

Case presentationA 28-year-old Turkish man with glycogen storage disease type Ib was admitted to our department because of dyspnea and increasing fatigue. He also presented with gum bleeding, bone pain in his legs, night sweats, recurrent episodes of fever with temperatures up to 39°C and hepatosplenomegaly.

A blood count taken on the day of admission showed pancytopenia and a differential count displayed 30% blasts. A bone marrow biopsy was taken which showed a hypercellular marrow with dysplastic features of all three cell lines, while blast count was 20%. Classical cytogenetic analyses as well as fluorescence in situ hybridization showed a monosomy 7 with a translocation t3;8q26;q24. Based on these findings, the diagnosis of acute myeloid leukemia was made.

ConclusionOur observations suggest that bone marrow examinations including cytogenetic analysis should be carried out on a regular basis in patients with glycogen storage disease type Ib who are on long-term treatment with granulocyte colony-stimulating factor for severe neutropenia, since this treatment might also contribute to an increased risk for acute myeloid leukemia or myelodysplastic syndromes.

Electronic supplementary materialThe online version of this article doi:10.1186-1752-1947-2-319 contains supplementary material, which is available to authorized users.

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Autor: Thomas Schroeder - Barbara Hildebrandt - Ertan Mayatepek - Ulrich Germing - Rainer Haas

Fuente: https://link.springer.com/







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