17p− Syndrome Arising from a Novel Dicentric Translocation in a Patient with Acute Myeloid Leukemia

• Published in: Cancer genetics and cytogenetics 2000-04, Vol.118 (2), p.159-162
• Main Authors: Watson, Neville, Dunlop, Lindsay, Robson, Lisa, Sharma, Praveen, Smith, Arabella
• Format: Article
• Language: English
• Subjects: Aged; Antineoplastic Combined Chemotherapy Protocols - therapeutic use; Biological and medical sciences; Chromosomes, Human, Pair 17; Chromosomes, Human, Pair 20; Follow-Up Studies; Hematologic and hematopoietic diseases; Humans; Karyotyping; Leukemia, Myeloid, Acute - drug therapy; Leukemia, Myeloid, Acute - genetics; Leukemia, Myeloid, Acute - pathology; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical sciences; Syndrome; Translocation, Genetic; Tropical medicine
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/S0165-4608(99)00188-0

The cytogenetic contribution to the poor prognosis when myelodysplastic syndrome (MDS) progresses to acute myeloid leukemia (AML) is not well understood. We present a 66-year-old male who had thrombocytopenia with dysplastic features in peripheral blood neutrophils (hypogranular, hyposegmented neutrophils) comprising the Pelger-Huet anomaly, increased blasts in the marrow, and markers consistent with AML. Diagnostic marrow cytogenetics showed a complex karyotype including del(5q), a novel unbalanced dicentric translocation, t(17;20), resulting in both del(20q) and del(17p). Fluorescence in situ hybridization (with probe TP53) showed deletion of 17p13 on the dicentric chromosome, completing the criteria for the 17p − syndrome. Fluorescence in situ hybridization with probes for two tumor suppressor genes on chromosome 5q also showed deletion ( CSF1R [at 5(q33.2–q33.4) and EGR-1 [5(q31–q32)]). Remission was difficult to achieve and cytogenetic relapse occurred 6 months postdiagnosis, and clinical relapse approximately one month later. Our case provides a novel mechanism for the 17p − syndrome, and highlights the difficulty of attributing prognostic significance to a particular cytogenetic abnormality in AML.