Acute Lymphoblastic Leukemia in an XYY Male Jaime Perez de Oteyza, Ana Sureda, Teresa Ferro, Jose G. Larafm, Jesfm Odriozola, Luis Escribano, and Jose L. Navarro

ABSTRACT: A ease aj acute lymphablastic leukemia (ALL) in a 16-ve(lr-old mole with a 47,XYY k(lrvatype is reported. This chr~nnosome aneuplakty was Jou~d in both bone marrow IBM) c~lls and mitogen-stimulated lymphoc~'tes. Immunologic profile o] leukemic cells showed a l~ull phenotype. To otJr kmmledge, this is the fifth case reported in the literature. INTRODUCTION

Children with certain constitutional chromosomal abnormalities such as trisomy 21 are generally considered to have a higher risk of developing acute leukemia than children with a normal karyotype [1]. Simultaneous occurrence of other constitutional aberrations involving sex chromosomes and cancer, has only occasionally been described, but the actual association of the two entities has not yet been established (2]. Several patients with constitutional XYY karyotype and acute leukemia have been reported in the literature, but whether they represent a random event is not well defined [3, 4]. In most such cases, the presenting neoplasia was acute n o n l y m p h o c y t i c leukemia [5, 6]. In contrast, we describe a patient with XYY syndrome who developed acute lymphoblastic leukemia {ALL), which, to our knowledge, is the fifth case reported in the literature. CASE REPORT

A 16-year-old boy was admitted to the hospital because of cervical l y m p h node enlargement. The patient had no history of psychological alterations or antisocial behavior. Physical examination showed no anatomical abnormalities. Spleen and liver were not palpable. Chest and a b d o m e n roentgenograms were normal. A lymph node biopsy and a BM aspirate were performed; the results are shown below. Comb i n e d chemotherapy was administered, and the patient achieved complete remission. MATERIALS A N D METHODS

Cytologic studies were performed in BM smears stained with May-Gr~inwald-Giemsa. Morphological patterns were classified according to criteria of the French-AmericanBritish (FAB) group [7]. From the Departments of Hematologyand Genetics,Hospital Ramony Cajal. Madrid. Spain. Address reprint requests to: Dr. J. Perez de Oteyza, Servicio de Hematalogfa, Hospital Ramon y Cajal, Ctra. de Cohnenar km 9, 28034 Madrid, Spain. Received August 3, •989; accepted February 21, 1990.

225 © 1990 ElsevierScience PublishingCo., Inc. 655 Aw~.nueof the Americas, New York, NY 10010

Cancer Genet Cytogenet39:225 227 (1990) 0165-4608/90/$03.50

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I.P. de Oteyza et al. Cytogenetic analysis was performed at the time of diagnosis in direct BM preparations after short-term (24-48 hours) and long-term cultures without stimulation, as well as in pokeweed mitogen (PWM)- and phytohemaglutinin (PHA)-stimulated l y m p h o c y t e cultures. Chromosomes were stained by trypsin-Giemsa (GTG)- and quinacrine fluorescence (QFQJ-banding techniques. Karyotype analysis was made by photography, and the c h r o m o s o m e s were classified according to the International System for Human Cytogenetic Nomenclature [81. ln:nnunohistochemical studies were performed on lymph node frozen sections, using m o n o c l o n a l antibodies against different surface antigens. Antibodies are referred according to their cluster of differentiation (CD) as internationally defined [9[.

RESULTS Bone marrow exalnination showed infiltration by medium-sized, round-shaped blasts with scanty cytoplasm, sparse chromatin, and one or two prominent nucleoli. The morphological pattern was considered to meet the criteria of ALL L2 type according to the FAB classification. Cytogenetic analysis showed a 47,XYY karyotype in both short-term and long-term unstimulated marrow cultures. The extra Y chromosome was present in all 85 marrowderived metaphases studied. The same sex c h r o m o s o m e aneuploidy was found in each of the 30 metaphases obtained from PWM-stimulated B lymphocytes and PHAstimulated T ceils, thus (:onfirming its (:onstitutional origin. Surface marker analysis showed negative reaction with CD1, CD2, CD3, CD4, CD5, CDS, CDIO, CD30, and CD15 monoclonal antibodies, indicating non-T non-B phenotype.

DISCUSSION The association of Down's syndrome and acute leukemia is now widely accepted [1]. Nevertheless, certain discrepancies have been reported concerning the probability of developing leukemia in individuals who have other constitutional chromosomal abnormalities. As early as 1967, Gilgeukrantz et al. [10, 111 described two patients with acute leukemia and XYY karyotype, and a six other cases of acute m m l y m p h o c y t i c leukemia and three cases of ALL have been reporte(t since then [2 6. 12]. Considering the relatively low frequency of acute leukemia and XYY karyotype in the general population, further multicenter studies to determine the potential association between the two entities are needed.

REFERENCES 1. Miller RW {197{)}: Neoplasia and I)own's syndrome. Ann NY Acad Sci 171:1537-644. 2. A l i m e n a (;, Billstrom R, ('asalone R, Gallo E, Mitehnan F, Pasquali F (1985): Cytogenetic

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pattern in lm~kemi(:cells of patients with constitutional chromosomal a[mormalitie.s. Cancer (,enet Cytogenet 16:207-209. Midro AT, Wojtukiewicz M, Bielawiec M, Sawicka A (1987]: XYY Syndrome and acute myeloblasti(:leukemia. Cancer Genet (]ylogenet 24:363 365. Gilgenkrantz S {1988): XYY Males and leukemia. Can(:el: (;enet (;ytogenet 30:337-3'38. Atk:hartakarn V, Punyammalee B, Wongsasanl B, Jootar N. (1986): Acute nolflylnpho{:yli{: lmlkemia with a tral~slo(:alion (1:3){p36;q21] in an XYY mall Can(:er (]enel (]ytogenel 21:79-83. Ohyashiki JH, Ohyashiki K, lwabm:hi H, Lin KC, Toyama K (1987): Acute myelomono(:ytic leukemia with inv(16){p13q22) in an XYY male. Can(:er Genet (]ytogenet 29:331-332, Bennet ]M, Catovsky D, Daniel MT, Flandrin G, Galton DAG, (;ralnic HR, Sultan C (1976): Proposals for the classifi(:ation of the acute leuke,mias. Br 1 Haematol 33:451-458.

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8. ISCN (1978): An International System for Human Cytogenetic Nomenclature. Birth Defects: Original Article Series, Vol. XIV, No. 8 (The National Foundation. New York, 1978]: also in Cytogenet Cell Genet 21:309-404 (1978). 9. McMichael AJ (1987): Leukocyte Typing [II. White Cell Differentiation Antigens. Oxford University Press, Oxford, p. 1029. 10. Gilgenkrantz S, Streiff F, Peters A, Cunin Y (1967): Aberrations chromosnmiques c:onstitutionelles et h6mopaties. Soc Biol Nancy 161:1347-1355, 11. Gilgenkrantz S, Lederlin P, Streiff F, Guerci O, Thibaut G, Hnuplon M, Herbeuval R {19691: Leukose aigueet aberration chromosomique XYY. Ann Med Nancy 8:565 570, 12. Benitez I, Valcarcel E, Ramos C, Ayuso C, Sanchez Cascos A [19871: Frequency of constitutinnal chromosome alterations in patients with hematologic malignancies. Cancer Genet Cytogenet 24:345-354.

Acute lymphoblastic leukemia in an XYY male.

A case of acute lymphoblastic leukemia (ALL) in a 16-year-old male with a 47,XYY karyotype is reported. This chromosome aneuploidy was found in both b...
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