XYY Syndrome and Acute Myeloblastic Leukemia

Alina T. Midro, Marek Wojtukiewicz, Michal Bielawiec, and Anna Sawicka

ABSTRACT: A 69-year-old man with hypogonadism was found to have a 47, X Y Y karyotype. Clinical and laboratory data revealed acute nonlymphocyt ic leukemia (ANLL) of the M2 type. The association between the X Y Y and ANLL-M2 is most l ikely accidental coincidence.

INTRODUCTION

Certain associat ions are known between const i tut ional chromosome abnormali t ies and neoplasia. These associat ions inc lude Down's syndrome (trisomy 21) and leu- kemia [1], 13q- and ret inoblastoma [2], and 11p- and Wilms ' tumor [3]. The XYY syndrome is a sex chromosome anomaly, descr ibed for the first t ime by Sandberg et al. [4]. It occurs in about one in 1000 male births [5]. Almost nothing is known about the inc idence of neoplas ia in XYY men [6]. This is a single case report of an XYY male wi th acute non lymphocy t i c leukemia (ANLL) of M2 type.

CASE REPORT

Clinical and laboratory studies revealed a male, 69 years old, height 178 cm, weight 61 kg. Both parents were normal and heal thy at the t ime of his birth, mother pri- migravida 19 years old, father 27 years old; one of this three younger brothers suf- fered from bone deformations and died at prepuberty. Physical examinat ion of the pat ient revealed polydipsia , polyuria , eunuchoid ism, bilateral gynecomastia, mi ld facial asymmetry, long ears, bony chin, long legs, broad hips, short IV and V meta- carpals, osteoporosis; hypogeni ta l i sm (small penis, 3 cm), extremely small testes wi th in small scrotum, no facial, axi l lary and pubical hair, skin with features of moderate hemorrhagic diathesis; hepatosplenomegaly , moderate mental retardation (education on the level of 4th grade in pr imary school), and aggressive behavior in his youth.

Endocrinologic findings showed elevated LH levels (24.5 mU/ml), decreased level of testosterone (0.31 ng/ml), and normal level of prolact in (24 ng/ml).

Hemoglobin was 8.6 g/dl, RBC 2.8 × 1012/L, thrombocytes 19.8 × 109/L, WBC 79.1 × 109/L with 95% blasts (myeloblast type). The bone marrow was hypercel lu- lar with 83% blasts classified as myeloblasts (FAB, M2).

From the Institute of Obstetrics and Gynecology, Department of Clinical Genetics (A.T.M., A.S.), and the Department of Hematology (M.W., M.B.), Medical School, Bialystok, Poland.

Address requests for reprints to Dr. Alina T. Midro, Institute of Obstetrics and Gynecology, Department of Clinical Genetics, Medical School, 15-062 Bialystok, Warszawska 15, Poland,

Received May 19, 1986; accepted July 10, 1986.

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© 1987 Elsevier Science Publishing Co., Inc. Cancer Genet Cytogenet 24:363-365(1987) 52 Vanderbilt Ave., New York, NY 10017 0165-4608/87/$03.50

364 A.T. Midro e ta | .

The dehydration-vasopressin test was performed by using ADH-analog (1-desa- mino-8-D-arginino-vasopressin) s t imulat ion and an increase of total urine osmolal- ity from 230 mOsm/kg to 545 mOsm/kg was observed. Chromosome studies by means of a GTG banding method according to Seabright [7] on peripheral blood cells stimulated by phytohemagglut inin revealed the presence of two Y chromo- somes in all studied metaphase cells and a consti tutional karyotype 47,XYY was established. Polymorphic variant 9qh+ was found.

Clinical, endocrinologic, and cytogenetic findings indicated an XYY syndrome. The diagnosis of ANLL-M2 was based on clinical symptoms, blood and bone mar- row examinations confirmed by histopathologic data after death. Furthermore, dia- betes insipidus of hypothalamic type was diagnosed.

COMMENT

Up to now the coincidence of the XYY syndrome and acute myeloblastic leukemia (AML) has not been reported. However, Al imena et al. [81 recently described two cases of XYY syndrome with ANLL-M3 and M5. Furthermore, Moore et ah [9] de- scribed a case of CML in a patient with 46,XY/47,XYY mosaicism. Only two cases with CML and the 47,XYY karyotype have been reported [10, 11]. One case of XYY with medulloblastoma has been described by Rosano et al. [12].

The critical question is whether different chromosome abnormalities are associ- ated with specific types of leukemia or with unique features of the disease. Unfor- tunately, chromosome studies on leukemic cells were not done in our case. Lym- phocytes cultured with phytohemagglut inin may be anticipated in ANLL to show only the consti tutional karyotype and not the chromosome changes associated with ANLL-M2 [13].

The current tally includes only five cases of XYY males with ANLL and CML. Thus, the association of XYY and ANLL-M2 reported here is most likely a coinci- dence, Prospective epidemiologic studies concerning the occurrence of leukemia in XYY males would be helpful to draw a definite conclusion.

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