Pediatric acute myeloid leukemia with t(8;16)(p11;p13), a distinct clinical and biological entity: a collaborative study by the International-Berlin-Frankfurt-Münster AML-study group

• Published in: Blood Vol. 122; no. 15; pp. 2704 - 2713
• Main Authors: Coenen, Eva A., Zwaan, C. Michel, Reinhardt, Dirk, Harrison, Christine J., Haas, Oskar A., de Haas, Valerie, Mihál, Vladimir, De Moerloose, Barbara, Jeison, Marta, Rubnitz, Jeffrey E., Tomizawa, Daisuke, Johnston, Donna, Alonzo, Todd A., Hasle, Henrik, Auvrignon, Anne, Dworzak, Michael, Pession, Andrea, van der Velden, Vincent H.J., Swansbury, John, Wong, Kit-fai, Terui, Kiminori, Savasan, Sureyya, Winstanley, Mark, Vaitkeviciene, Goda, Zimmermann, Martin, Pieters, Rob, van den Heuvel-Eibrink, Marry M.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 10-10-2013; American Society of Hematology
• Subjects: Adolescent; Child; Child, Preschool; Chromosomes, Human, Pair 16; Chromosomes, Human, Pair 8; Cooperative Behavior; Female; Gene Expression Regulation, Leukemic; Germany - epidemiology; Humans; Infant; Infant, Newborn; Leukemia, Myeloid, Acute - genetics; Leukemia, Myeloid, Acute - mortality; Leukemia, Myeloid, Acute - therapy; Male; Myeloid Neoplasia; Prognosis; Remission, Spontaneous; Transcriptome; Translocation, Genetic - genetics; Germany
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood-2013-02-485524

In pediatric acute myeloid leukemia (AML), cytogenetic abnormalities are strong indicators of prognosis. Some recurrent cytogenetic abnormalities, such as t(8;16)(p11;p13), are so rare that collaborative studies are required to define their prognostic impact. We collected the clinical characteristics, morphology, and immunophenotypes of 62 pediatric AML patients with t(8;16)(p11;p13) from 18 countries participating in the International Berlin-Frankfurt-Münster (I-BFM) AML study group. We used the AML-BFM cohort diagnosed from 1995-2005 (n = 543) as a reference cohort. Median age of the pediatric t(8;16)(p11;p13) AML patients was significantly lower (1.2 years). The majority (97%) had M4-M5 French-American-British type, significantly different from the reference cohort. Erythrophagocytosis (70%), leukemia cutis (58%), and disseminated intravascular coagulation (39%) occurred frequently. Strikingly, spontaneous remissions occurred in 7 neonates with t(8;16)(p11;p13), of whom 3 remain in continuous remission. The 5-year overall survival of patients diagnosed after 1993 was 59%, similar to the reference cohort (P = .14). Gene expression profiles of t(8;16)(p11;p13) pediatric AML cases clustered close to, but distinct from, MLL-rearranged AML. Highly expressed genes included HOXA11, HOXA10, RET, PERP, and GGA2. In conclusion, pediatric t(8;16)(p11;p13) AML is a rare entity defined by a unique gene expression signature and distinct clinical features in whom spontaneous remissions occur in a subset of neonatal cases.
•Pediatric t(8;16)(p11;p13) AML is a rare entity defined by a unique gene expression signature and distinct clinical features.•Spontaneous remissions occur in a subset of neonatal t(8;16)(p11;p13) AML cases.