ELSEV lER LETTERS TO THE EDITOR Translocation(l5;17)(q22;q21) in a Patient with Klinefelter Syndrome Some constitutional chromosome abnormalities are as- sociated with an increased risk of malignancy. Klinefelter syndrome (47,XXY) is associated with certain solid tumors, i.e., breast cancer and extragonadal germ cell tumors [l]. However, the relationship between Klinefelter syndrome (KS) and leukemia is unclear. Only a few cases of acute lyphoblastic leukemia (ALL) [l], acute non-lymphoblastic leukemia (ANLL) 11, 21, chronic myelogenous leukemia [3], or myelodysplastic syndrome [4] have been described, but to the best of our knowledge, occurrence of t(15;17) promye- locytic leukemia in a KS has not been previously described. An 18-year-old man with KS was admitted because of bleeding and anemic syndrome. A blood count showed he- moglobin 7.7 g/ dL, white blood cells 37.7 x log/ L, and plate- lets 75 x log/ L. Bone marrow aspirate displayed 96% of promyelocytes with bilobulated nuclei and fine azurophilic granules in the cytoplasm. Blastic cells expressed CD45, CD33, CD13, and CD71 antigens, but were lacking in HLA- DR, CD34, CD14, CDl5, CDllb, and CD61 expression. Karyo- typic analysis showed 47,XXYc,t(l5;17)(q22;q21) in all metaphases analyzed. PML/ RARa gene rearrangement w as detected by RT-PCR. A diagnosis of acute non-lymphoblastic leukemia M-3 variant was made. The patient was treated with all-tmns-retinoic acid (ATRA), doxorubicine, and Am-C. Complete remission was achieved after the first course of ther- apy and cytogenetic analysis showed 47,XXYc. RT-PCR for PML/ RARa gene was negative. The patient is still in com- plete remission, on maintenance chemotherapy with ATRA, methotrexate, and mercaptopurine. Different FAB subtypes of ANLL have been found in as- sociation with KS [l, 5, 61, but generally these reports did not include information on chromosome abnormalities pres- ent in the leukemic cells [5]. Moreover, to our knowledge no cases of ANLL M3 with t(15;17) and KS have been reported previously. In spite of the suggestion of a possible relation- ship between KS and leukemia [2], according to the epidemi- ologic data, this association is probably coincidental [l, 31. JUAN LUIS GARCiA Servicio de Hematologia JESirS MARiA HERNANDEZ Hospital Universitario MARCOS GONtiLEZ de Salamanca JEStiS F. SAN MIGUEL Salamanca, Spain PAOLA DAL CIN Center of Human Genetics HERMAN VAN DEN BERGHE KUL Leuven, Belgium REFERENCES 1. 2. 3. 4. 5. 6. Sandberg AA (1990): The Chromosomes in Human Cancer and Leukemia, 2nd Edition. Elsevier, New York. Muts-Homsma SJM, Muller HP, Geraedts JPM (1982): Klinefelter’s syndrome and acute non-lymphocytic leukemia. Blut 44:15-X1. Alimena G, Billstim R, Casalone R, Gallo E, Mitelman F, Pasquali F (1985): Cytogenetic pattern in leukemic cells of patients with constitutional chromosome abnormalities. Cancer Genet Cytoge- net 16:207-218. Dow G, Reid GD, Horsman DE, Barn&t MJ (1993): Unusual rheu- matological and cardiological manifestations of acute myeloge- nous leukemia in a patient with Klinefelter’s syndrome. L.euk Lym- phoma 9:419-421. Foot ABM, Oakhill A, Kitchen C (1992): Acute monoblastic leuke- mia of infancy in Klinefelter’s syndrome. Cancer Genet Cytoge- net 61:99-100. Horsman DE, Pantzar JP, Dill FJ, Kalousek DK (1987): Klinefelter’s syndrome and acute leukemia. Cancer Genet Cytogenet 26: 375-376. Cancer Genet Cytogenet 86:86 (1996) 0 Elsevier Science Inc.. 1996 655 Avenue of the Americas, New York, NY 10010 0165.4608/96/$15.00 SSDI 0165-4608(95)00108-Z