KMT2A - MLLT1 and the Novel SEC16A - KMT2A in a Cryptic 3-Way Translocation t(9;11;19) Present in an Infant With Acute Lymphoblastic Leukemia

• Published in: Journal of pediatric hematology/oncology Vol. 44; no. 3; pp. e719 - e722
• Main Authors: de Matos, Roberto R.C., Ferreira, Gerson M., Meyer, Claus, Marschalek, Rolf, Larghero, Patrizia, Ribeiro, Raul C., Liehr, Thomas, Othman, Moneeb, Bizarro, Mariana T. de S.M., Sobral da Costa, Elaine, Land, Marcelo G.P., Abdelhay, Eliana, Binato, Renata, Silva, Maria Luiza M.
• Format: Journal Article
• Language: English
• Published: United States Lippincott Williams & Wilkins 01-04-2022
• Subjects: Child; Endoplasmic Reticulum - metabolism; Golgi Apparatus - metabolism; Humans; Infant; Myeloid-Lymphoid Leukemia Protein - genetics; Myeloid-Lymphoid Leukemia Protein - metabolism; Neoplasm Proteins - genetics; Nuclear Proteins - genetics; Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics; Transcription Factors - genetics; Translocation, Genetic; Vesicular Transport Proteins
• ISSN: 1077-4114; 1536-3678
• DOI: 10.1097/MPH.0000000000002386

About 25% of the patients with the translocation t(11;19)(q23;p13.3)/
KMT2A
-
MLLT1
present three-way or more complex fusions, associated with a worse prognosis, suggesting that a particular mechanism creates functional
KMT2A
fusions for this condition. In this work, we show a cryptic three-way translocation t(9;11;19). Interestingly, long-distance inverse polymerase chain reaction sequencing revealed a
KMT2A
-
MLLT1
and the yet unreported out-of-frame
SEC16A
-
KMT2A
fusion, associated with low
SEC16A
expression and
KMT2A
overexpression, in an infant with B-acute lymphoblastic leukemia presenting a poor prognosis. Our case illustrates the importance of molecular cytogenetic tests in selecting cases for further investigations, which could open perspectives regarding novel therapeutic approaches for poor prognosis childhood leukemias.