RAR-ά Gene Rearrangements as a Genetic Marker for Diagnosis and Monitoring in Acute Promyelocytic Leukemia

• Published in: Blood Vol. 77; no. 7; pp. 1418 - 1422
• Main Authors: Biondi, Andrea, Rambaldi, Alessandro, Alcalay, Myriam, Pandolfi, Pier Paolo, Coco, Francesco Lo, Diverio, Daniela, Rossi, Vincenzo, Mencarelli, Amedea, Longo, Letizia, Zangrilli, Daniela, Masera, Giuseppe, Barbui, Tiziano, Mandelli, Franco, Grignani, Fausto, Pelicci, Pier Giuseppe
• Format: Journal Article
• Language: English
• Published: Washington, DC Elsevier Inc 01.04.1991; The Americain Society of Hematology
• Subjects: Adolescent; Adult; Biological and medical sciences; Blotting, Southern; Bone Marrow - pathology; Carrier Proteins - genetics; Cells, Cultured; Child; Child, Preschool; Chromosome Banding; Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 17; DNA, Neoplasm - genetics; DNA, Neoplasm - isolation & purification; Female; Gene Rearrangement; Genetic Markers; Hematologic and hematopoietic diseases; Humans; Leukemia, Promyelocytic, Acute - diagnosis; Leukemia, Promyelocytic, Acute - genetics; Leukemia, Promyelocytic, Acute - pathology; Male; Medical sciences; Middle Aged; Prognosis; Receptors, Retinoic Acid; Restriction Mapping; Translocation, Genetic; Tretinoin - metabolism; Human; Promyelocytic leukemia; Myeloproliferative syndrome; Cytogenetics; Exploration; Malignant hemopathy; Diagnosis
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.V77.7.1418.1418

Acute promyelocytic leukemias (APLs) are characterized by a translocation that involves chromosomes 15 and 17. The translocation breakpoints have recently been identified and shown to involve the RAR-ά gene on 17 and myl on 15. Here we report Southern blotting analysis of 26 APLs, including cases with normal karyotypes and atypical morphology, which showed RAR-ά rearrangements in 92% cases, myl rearrangements in 73%, and either RAR-ά or myl rearrangeents in 100%. Despite a negative clinical and morphologic picture, DNA rearrangement analysis showed that neoplastic promyelocytes persisted in the bone marrow of two patients sampled after induction chemotherapy. Therefore, the RAR-ά and myl rearrangements provide molecular markers for accurately diagnosing APLs and monitoring the course of the disease during and after chemotherapy.