HEREDITARY MULTIPLE EXOSTOSES AND ACUTE MYELOID LEUKEMIA: An Unusual Association

• Published in: Pediatric hematology and oncology Vol. 17; no. 8; pp. 707 - 711
• Main Authors: Gözda o lu, Sevgi, Uysal, Zümrüt, Kürekçi, A. Emin, Akarsu, Saadet, Ertem, Mehmet, Fitöz, Suat, kincio ullarí, Aydan, Cin, ükrü
• Format: Journal Article
• Language: English
• Published: Philadelphia, PA Informa UK Ltd 2000; Taylor & Francis
• Subjects: Acute Disease; Biological and medical sciences; Child; Exostoses, Multiple Hereditary - complications; Exostoses, Multiple Hereditary - diagnostic imaging; Exostoses, Multiple Hereditary - genetics; Female; Hematologic and hematopoietic diseases; Hereditary; Humans; Leukemia; Leukemia, Myeloid - complications; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Medical sciences; Multiple Exostoses; Pedigree; Radiography; Human; Acute; Diseases of the osteoarticular system; Malignant hemopathy; Genetic disease; Case study; Concomitant disease; Treatment; Diagnosis; Osteochondrodysplasia; Child; Multiple cartilaginous exostosis; Acute myelocytic leukemia
• ISSN: 0888-0018; 1521-0669
• DOI: 10.1080/08880010050211439

Hereditary multiple exostoses (HME) is an autosomal dominant disorder characterized by the presence of multiple exostoses. Threegenetic loci have been identified, of which two (EXT1 and EXT2) have tumor suppressor activity. HME greatly increases the risk to develop sarcoma in the dysplastic tissue. The authors report an 8-year-old girl with HME who developed acute myeloblastic leukemia.