title: Maffucci syndrome and neoplasms: a case report and review of the literature.
abstract: BACKGROUND
  Maffucci syndrome is characterized by the sporadic occurrence of multiple enchondromas together with multiple hemangiomas. Patients with Maffucci syndrome are at increased risk of developing different kinds of malignant tumors.
  
  
  METHODS
  We report on a 39-year-old woman who was diagnosed with Maffucci syndrome together with intrahepatic cholangiocarcinoma (IHCC). Heterozygous somatic mutations in the isocitrate dehydrogenase 1 and 2 (IDH1/IDH2) genes are associated with a number of different tumor types (e.g. IHCC) and also with Maffucci syndrome. For IHCC, mutations in IDH1/IDH2 are associated with higher survival rates. IHCC tissue as well as normal liver tissue and peripheral blood were analyzed for IDH1/IDH2-mutations in our patient. In the tumor sample, we identified a recurrent somatic IDH1-mutation affecting Arg132, while in normal liver tissue and peripheral blood, no variants were detected, as expected.
  
  
  CONCLUSIONS
  This case report presents the second patient in the literature exhibiting the features of Maffucci syndrome along with cholangiocarcinoma. This supports the hypothesis that IDH1/2-mutations, which can be present in different types of tumor tissue simultaneously, arise during embryonic development in a mosaic pattern; as a result, a more aggressive follow-up is proposed in patients with Maffucci syndrome to exclude neoplasms.
authors.affiliation: Department of Surgery, Klinikum rechts der Isar, Technical University, Ismaningerstrasse 22, 81675, Munich, Germany. olga.prokopchuk@gmx.de.
authors.forename: Olga
authors.initials: O
authors.lastname: Prokopchuk
authors.affiliation: Institute of Human Genetics, Technical University, Munich, Germany. Stephanie.Andres@humangenetik.med.tum.de.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Andres
authors.affiliation: Institute of General Pathology and Pathological Anatomy, Technical University, Munich, Germany. karen.becker@lrz.tu-muenchen.de.
authors.forename: Karen
authors.initials: K
authors.lastname: Becker
authors.affiliation: Institute of Radiology, Technical University, Munich, Germany. koholzapfel@gmx.de.
authors.forename: Konstantin
authors.initials: K
authors.lastname: Holzapfel
authors.affiliation: Department of Surgery, Klinikum rechts der Isar, Technical University, Ismaningerstrasse 22, 81675, Munich, Germany. daniel.hartmann@tum.de.
authors.forename: Daniel
authors.initials: D
authors.lastname: Hartmann
authors.affiliation: Department of Surgery, Klinikum rechts der Isar, Technical University, Ismaningerstrasse 22, 81675, Munich, Germany. Helmut.Friess@mri.tum.de.
authors.forename: Helmut
authors.initials: H
authors.lastname: Friess
mesh_terms: D000328:Adult; D018281:Cholangiocarcinoma / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004687:Enchondromatosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D015870:Gene Expression; D006391:Hemangioma / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000235:genetics*; D008113:Liver Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009154:Mutation
chemical_list: C538784:IDH2 protein, human; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human