The clinical utility of genetic testing for t(8;16)(p11;p13) in congenital acute myeloid leukemia

• Published in: Journal of pediatric hematology/oncology Vol. 36; no. 5; p. e325
• Main Authors: Daifu, Tomoo, Kato, Itaru, Kozuki, Kagehiro, Umeda, Katsutsugu, Hiramatsu, Hidefumi, Watanabe, Ken-Ichiro, Kamiya, Ichiro, Taki, Tomohiko, Nakahata, Tatsutoshi, Heike, Toshio, Adachi, Souichi
• Format: Journal Article
• Language: English
• Published: United States 01.07.2014
• Subjects: Antineoplastic Combined Chemotherapy Protocols - therapeutic use; Chromosomes, Human, Pair 16 - genetics; Chromosomes, Human, Pair 8 - genetics; Female; Genetic Testing - utilization; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Leukemia, Myeloid, Acute - congenital; Leukemia, Myeloid, Acute - drug therapy; Leukemia, Myeloid, Acute - genetics; Oncogene Proteins, Fusion - genetics; Prognosis; Remission Induction; Reverse Transcriptase Polymerase Chain Reaction; RNA, Messenger - genetics; Translocation, Genetic - genetics
• ISSN: 1536-3678
• DOI: 10.1097/MPH.0000000000000099

Acute myeloid leukemia (AML) with t(8;16)(p11;p13) is known to have very poor prognosis in adults. In contrast, the prognosis is not clear in pediatric patients and chemotherapy is generally started immediately in cases of congenital leukemia because of its association with hyperleukocytosis and poor prognosis. This study reports a case of congenital AML where chemotherapy was discontinued after detection of a MOZ-CBP fusion, which remains in remission without additional treatment. This article stresses the importance of examination for the presence of the MOZ-CBP fusion at diagnosis to inform treatment decisions in congenital AML.