Chromosome Abnormalities in Down’s Syndrome Patients With Acute Leukemia

• Published in: Blood Vol. 58; no. 3; pp. 459 - 466
• Main Authors: Kaneko, Yasuhiko, Rowley, Janet D., Variakojis, Daina, Chilcote, Robert R., Moohr, John W., Patel, Daksha
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.09.1981
• Subjects: Acid Phosphatase; Acute Disease; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Down Syndrome - complications; Female; Humans; Infant; Karyotyping; Leukemia - blood; Leukemia - complications; Leukemia - diagnosis; Male; Naphthol AS D Esterase; Periodic Acid-Schiff Reaction; Receptors, Antigen, B-Cell; Rosette Formation
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V58.3.459.459

Chromosome and cytologic studies were performed on three Down’s syndrome (DS) patients with acute nonlymphocytic leukemia (ANLL). All three patients had an aneuploid clone in their leukemic cells: 50,XX,+ 6, + 19, + 21, + 22, 48,XX, + 8, + 21, and 47,XY, + 8,221, + dic(21;21)(p13;p11). Every patient appeared to have acute undifferentiated leukemia when the blast cells were examined with Wright-Giemsa stain; cytochemistry studies, however, showed that the leukemic blasts were in an early stage of myeloid differentiation. The two patients with +8 had a preleukemic phase; the blast cells of the patient with an extra no. 19 and no. 22 could not be differentiated morphologically from those of the two patients with an extra no. 8. Our findings and a review of data on 40 other patients suggest that most DS children with ANLL have hyperdiploidy, which is usually related to gains of C, F, and/or G chromosomes, and that the abnormalities of +8 and of +19,+ 22 in DS children may be associated with acute leukemia (AL) in an early stage of myeloid differentiation.