Trisomy 6 Is the Hallmark of a Dysplastic Clone in Bone Marrow Aplasia

• Published in: Cancer genetics and cytogenetics 1998-08, Vol.105 (1), p.55-59
• Main Authors: La Starza, Roberta, Matteucci, Caterina, Crescenzi, Barbara, Criel, Arnold, Selleslag, Dominik, Martelli, Massimo F, Van den Berghe, Herman, Mecucci, Cristina
• Format: Article
• Language: English
• Subjects: Anemia, Aplastic - genetics; Anemia, Aplastic - pathology; Biological and medical sciences; Bone Marrow Cells - pathology; Chromosomes, Human, Pair 6 - genetics; Clone Cells - pathology; Female; Hematologic and hematopoietic diseases; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Medical sciences; Middle Aged; Other diseases. Hematologic involvement in other diseases; Trisomy - genetics; Trisomy - pathology
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/S0165-4608(97)00476-7

Clonal hematopoiesis with trisomy 6 as the sole karyotypic change was revealed by cytogenetics in two cases of aplastic anemia. In both patients, dyserythropoiesis was characterized by asynchrony of maturation between nucleus and cytoplasm, binucleated elements, and intercytoplasmic connections. In addition to conventional cytogenetics, the size of the trisomic clone was evaluated by fluorescence in situ hybridization on fixed cells at diagnosis and in the course of the disease by using an α-satellite centromeric probe for chromosome 6. Moreover, in situ hybridization on bone marrow smears showed that dysplastic erythrocytes as well as myeloid cells belonged to the trisomic clone. Trisomy 6 identifies a subgroup of hematologic disorders with bone marrow hypo-aplasia and dyserythropoiesis.