title: [Loeys-Dietz syndrome with acute myeloid leukemia].
abstract: A 54-year-old man, who had been diagnosed with Loeys-Dietz syndrome based on his past history, family history, clinical findings, and the presence of a gene mutation, was referred to our hospital because of easy fatigability. Anemia, thrombocytopenia, and blasts in his peripheral blood were noted, and 31.4% blasts were found in a bone marrow aspiration. The blasts were positive for myeloperoxidase and esterase staining. Furthermore, karyotype analysis of bone marrow cells showed t(11;19)(q23;p13.1) and MLL abnormality was detected on RT-PCR A diagnosis of acute myeloid leukemia (M4) with 11q23 (MLL) abnormality was made. Loeys-Dietz syndrome is a Marfan-like congenital connective tissue disorder caused by a heterozygous missense mutation of a TGF-beta receptor I or II gene. The TGF-beta family inhibits the proliferation of normal epithelial cells and induces apoptosis, and is therefore known as a tumor suppressor factor. In this article, we discussed the association between Loeys-Dietz syndrome with a TGF-beta receptor gene mutation and cancer.
authors.affiliation: Division of Hematology, Department of Internal Medicine, Sumitomo Hospital.
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Togashi
authors.forename: Hiroto
authors.initials: H
authors.lastname: Sakoda
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Sugahara
authors.forename: Kosuke
authors.initials: K
authors.lastname: Asagoe
authors.forename: Yuji
authors.initials: Y
authors.lastname: Matsuzawa
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D003561:Cytarabine / Q000008:administration & dosage; D006801:Humans; D015255:Idarubicin / Q000008:administration & dosage; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D008297:Male; D008382:Marfan Syndrome / Q000150:complications* / Q000235:genetics*; D008875:Middle Aged; D020125:Mutation, Missense; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D012074:Remission Induction; D014178:Translocation, Genetic
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D003561:Cytarabine; D015255:Idarubicin