title: Gastrointestinal stromal tumor in an XYY/XY male.
abstract: A 32-year-old patient was diagnosed with a gastrointestinal stromal tumor of the small bowel. The pathologic diagnosis was confirmed by positive immunochemistry against CD34, and against CD117, the tyrosine-kinase c-kit. We performed a karyotypic analysis on the basis of the patient's tall stature and speech difficulties. One hundred thirty-two metaphases were obtained on PHA-stimulated peripheral blood; 123 of them presented an extra chromosome Y. Fluorescence in situ hybridization using a Y satellite III probe showed the presence of a sole copy of chromosome Y in the tumor cells precluding a direct relationship between the extra chromosome Y and the initiation of the tumor. This is, to our knowledge, the second occurrence of a nonhematologic malignancy reported in this genetic disorder. A review of the malignancies observed in men with the XYY constitution is presented.
authors.affiliation: Département d'Hématologie et d'Oncologie, Hôpitaux Universitaires de Strasbourg, Strasbourg cedex, France. jean-marc.limacher@chru-strasbourg.fr
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Limacher
authors.forename: Françoise
authors.initials: F
authors.lastname: Girard-Lemaire
authors.forename: Eric
authors.initials: E
authors.lastname: Jeandidier
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Chenard-Neu
authors.forename: Maysoun
authors.initials: M
authors.lastname: Kassem
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Flori
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Bergerat
mesh_terms: D000328:Adult; D018952:Antigens, CD34 / Q000032:analysis; D005770:Gastrointestinal Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009363:Neoplasm Proteins / Q000032:analysis; D019009:Proto-Oncogene Proteins c-kit / Q000032:analysis; D017154:Stromal Cells / Q000473:pathology; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
chemical_list: D018952:Antigens, CD34; D009363:Neoplasm Proteins; D019009:Proto-Oncogene Proteins c-kit