Gastrointestinal stromal tumor in an XYY/XY male.
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.
Limacher
Jean-Marc
JM
Département d'Hématologie et d'Oncologie, Hôpitaux Universitaires de Strasbourg, Strasbourg cedex, France. jean-marc.limacher@chru-strasbourg.fr
Girard-Lemaire
Françoise
F
Jeandidier
Eric
E
Chenard-Neu
Marie-Pierre
MP
Kassem
Maysoun
M
Flori
Elisabeth
E
Bergerat
Jean-Pierre
JP
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*
D018952:Antigens, CD34; D009363:Neoplasm Proteins; D019009:Proto-Oncogene Proteins c-kit