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Translocation(15;17)(q22;q21) in a patient with Klinefelter syndrome
ELSEVlER
LETTERS TO THE EDITOR
Translocation(l5;17)(q22;q21)
in a Patient with
Klinefelter Syndrome
Some constitutional chromosome abnormalities are associated 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) promyelocytic 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 hemoglobin 7.7 g/dL, white blood cells 37.7 x log/L, and platelets 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 HLADR, CD34, CD14, CDl5, CDllb, and CD61 expression. Karyotypic analysis showed 47,XXYc,t(l5;17)(q22;q21) in all metaphases analyzed. PML/RARa gene rearrangement was 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 therapy and cytogenetic analysis showed 47,XXYc. RT-PCR for PML/RARa gene was negative. The patient is still in complete remission, on maintenance chemotherapy with ATRA, methotrexate, and mercaptopurine. Different FAB subtypes of ANLL have been found in association with KS [l, 5, 61, but generally these reports did not include information on chromosome abnormalities pres-
Cancer Genet Cytogenet 86:86 (1996) 0 Elsevier Science Inc.. 1996 655 Avenue of the Americas, New York, NY 10010
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 relationship between KS and leukemia [2], according to the epidemiologic data, this association is probably coincidental [l, 31. JUAN LUIS GARCiA JESirS MARiA HERNANDEZ MARCOS GONtiLEZ JEStiS
F. SAN MIGUEL
PAOLA DAL CIN HERMAN VAN DEN BERGHE
Servicio de Hematologia Hospital Universitario de Salamanca Salamanca, Spain Center of Human Genetics KUL Leuven, Belgium
REFERENCES 1. Sandberg AA (1990): The Chromosomes in Human Cancer and Leukemia, 2nd Edition. Elsevier, New York. 2.
Muts-Homsma SJM, Muller HP, Geraedts JPM (1982): Klinefelter’s syndrome and acute non-lymphocytic leukemia. Blut 44:15-X1.
3. 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 Cytogenet 16:207-218. 4.
Dow G, Reid GD, Horsman DE, Barn&t MJ (1993): Unusual rheumatological and cardiological manifestations of acute myelogenous leukemia in a patient with Klinefelter’s syndrome. L.euk Lymphoma 9:419-421.
5.
Foot ABM, Oakhill A, Kitchen C (1992): Acute monoblastic leukemia of infancy in Klinefelter’s syndrome. Cancer Genet Cytogenet 61:99-100.
6.
Horsman DE, Pantzar JP, Dill FJ, Kalousek DK (1987): Klinefelter’s syndrome and acute leukemia. Cancer Genet Cytogenet 26: 375-376.
0165.4608/96/$15.00
SSDI 0165-4608(95)00108-Z
LETTERS TO THE EDITOR
Translocation(l5;17)(q22;q21)
in a Patient with
Klinefelter Syndrome
Some constitutional chromosome abnormalities are associated 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) promyelocytic 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 hemoglobin 7.7 g/dL, white blood cells 37.7 x log/L, and platelets 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 HLADR, CD34, CD14, CDl5, CDllb, and CD61 expression. Karyotypic analysis showed 47,XXYc,t(l5;17)(q22;q21) in all metaphases analyzed. PML/RARa gene rearrangement was 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 therapy and cytogenetic analysis showed 47,XXYc. RT-PCR for PML/RARa gene was negative. The patient is still in complete remission, on maintenance chemotherapy with ATRA, methotrexate, and mercaptopurine. Different FAB subtypes of ANLL have been found in association with KS [l, 5, 61, but generally these reports did not include information on chromosome abnormalities pres-
Cancer Genet Cytogenet 86:86 (1996) 0 Elsevier Science Inc.. 1996 655 Avenue of the Americas, New York, NY 10010
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 relationship between KS and leukemia [2], according to the epidemiologic data, this association is probably coincidental [l, 31. JUAN LUIS GARCiA JESirS MARiA HERNANDEZ MARCOS GONtiLEZ JEStiS
F. SAN MIGUEL
PAOLA DAL CIN HERMAN VAN DEN BERGHE
Servicio de Hematologia Hospital Universitario de Salamanca Salamanca, Spain Center of Human Genetics KUL Leuven, Belgium
REFERENCES 1. Sandberg AA (1990): The Chromosomes in Human Cancer and Leukemia, 2nd Edition. Elsevier, New York. 2.
Muts-Homsma SJM, Muller HP, Geraedts JPM (1982): Klinefelter’s syndrome and acute non-lymphocytic leukemia. Blut 44:15-X1.
3. 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 Cytogenet 16:207-218. 4.
Dow G, Reid GD, Horsman DE, Barn&t MJ (1993): Unusual rheumatological and cardiological manifestations of acute myelogenous leukemia in a patient with Klinefelter’s syndrome. L.euk Lymphoma 9:419-421.
5.
Foot ABM, Oakhill A, Kitchen C (1992): Acute monoblastic leukemia of infancy in Klinefelter’s syndrome. Cancer Genet Cytogenet 61:99-100.
6.
Horsman DE, Pantzar JP, Dill FJ, Kalousek DK (1987): Klinefelter’s syndrome and acute leukemia. Cancer Genet Cytogenet 26: 375-376.
0165.4608/96/$15.00
SSDI 0165-4608(95)00108-Z