A Hartmann

Publications (2)1.34 Total impact

• Article: Hereditäre Tumoren des Kopf-Hals-Bereichs

  S. Schwarz-Furlan, C. Brase, P. Stockmann, I. Furlan, A. Hartmann
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  ABSTRACT: Zu den seltenen erblichen Tumorsyndromen, die sich im Kopf-Hals-Bereich manifestieren, zählen das hereditäre Paragangliom, das Gorlin-Goltz-Syndrom und die Fanconi-Anämie. Beim hereditären Paragangliom treten meist mehrere Tumoren am Glomus caroticum und/oder Glomus jugulotympanicum auf. Die korrespondierenden Gendefekte betreffen den mitochondrialen Succinat-Dehydrogenase-Komplex, der ein autonomes Tumorzellwachstum induziert. Das Gorlin-Goltz-Syndrom ist durch das Auftreten von multiplen Basalzellkarzinomen und keratozystischen odontogenen Tumoren charakterisiert. Die assoziierten Keimbahnmutationen sind im Patched-Gen lokalisiert, das einen Regulator des Zellzyklus darstellt. Bei der Fanconi-Anämie handelt es sich um ein Syndrom chromosomaler Instabilität mit primärem Knochenmarksversagen und sekundärer Entwicklung von Leukämien. Daneben treten Plattenepithelkarzinome im Kopf-Hals-Bereich, im Ösophagus und am äußeren Genitale auf. Es sind bislang 13 unterschiedliche Gendefekte bekannt, die zwei DNA-assoziierte Komplexe, welche die DNA-Reparatur steuern, betreffen. Hereditary paraganglioma, Gorlin-Goltz syndrome and Fanconi anemia are among the rare hereditary tumor syndromes of the head and neck. Patients with hereditary paraganglioma often develop multiple tumors of the glomus caroticum and glomus jugulotympanicum. The corresponding genetic defects of the mitochondrial succinate dehydrogenase complex induce autonomous tumor cell growth. In patients with Gorlin-Goltz syndrome basal cell carcinomas and keratocystic odontogenic tumors usually occur much earlier than in patients with sporadic tumors. The associated germline mutations are located in the patched gene which is a modulator of the cell cycle. Fanconi anemia represents a chromosomal instability syndrome which is characterized by early onset of pancytopenia, i.e. bone marrow failure and subsequent development of acute myeloid leukemia and/or squamous cell carcinomas, especially of the head and neck. A total of 13 different gene clusters have been identified in 2 DNA associated complexes which play an important role in DNA repair mechanisms. SchlüsselwörterHereditäres Paragangliom-Gorlin-Goltz-Syndrom-Keratozystischer odontogener Tumor-Fanconi-Anämie-Kopf-Hals-Tumor KeywordsHereditary paraganglioma-Gorlin-Goltz syndrome-Keratocystic odontogenic tumor-Fanconi anemia-Head and neck tumor
  Der Pathologe 04/2012; 31(6):477-484. · 0.67 Impact Factor
• Article: [Hereditary head and neck tumors].

  S Schwarz-Furlan, C Brase, P Stockmann, I Furlan, A Hartmann
  [show abstract] [hide abstract]
  ABSTRACT: Hereditary paraganglioma, Gorlin-Goltz syndrome and Fanconi anemia are among the rare hereditary tumor syndromes of the head and neck. Patients with hereditary paraganglioma often develop multiple tumors of the glomus caroticum and glomus jugulotympanicum. The corresponding genetic defects of the mitochondrial succinate dehydrogenase complex induce autonomous tumor cell growth. In patients with Gorlin-Goltz syndrome basal cell carcinomas and keratocystic odontogenic tumors usually occur much earlier than in patients with sporadic tumors. The associated germline mutations are located in the patched gene which is a modulator of the cell cycle. Fanconi anemia represents a chromosomal instability syndrome which is characterized by early onset of pancytopenia, i.e. bone marrow failure and subsequent development of acute myeloid leukemia and/or squamous cell carcinomas, especially of the head and neck. A total of 13 different gene clusters have been identified in 2 DNA associated complexes which play an important role in DNA repair mechanisms.
  Der Pathologe 10/2010; 31(6):477-84. · 0.67 Impact Factor