A Rare t(1;11)(q42;q23) Rearrangement with Trisomy 8 and Trisomy 21 in a Pediatric Acute Myeloid Leukemia Patient with Aberrant CD7 Expression and Jacob Syndrome: Diagnostic Value of Conventional Cytogenetics and Fluorescence in Situ Hybridization in a Rapidly Fatal Case.
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Acute myeloid leukemia (AML) with KMT2A gene rearrangements has been observed to demonstrate an aggressive biological behavior, especially in pediatric cases. Cytogenetic abnormalities that are extremely uncommon, such as t(1;11)(q21;q23), in addition to other chromosomal abnormalities, can further impact the clinical course of the disease. The aim of the study is to report on an uncommon case of pediatric AML with a t(1;11)(q42;q23) involving a KMT2A gene rearrangement together with other chromosomal abnormalities, emphasizing the importance of performing cytogenetics and FISH studies for hematopoietic workups and an accurate diagnosis. Cytogenetic evaluation was done using conventional karyotype analysis. FISH studies using the KMT2A break-apart probe were used to establish the existence of gene rearrangement. To determine the partner chromosome, whole chromosome FISH painting was performed. Immunophenotypic studies were also performed to determine antigen expression. A two-year-old child diagnosed with AML had multiple chromosomal abnormalities, including t(1;11)(q42;q23), trisomy 8, trisomy 21, and 47,XYYc karyotype. There were four fusion signals for KMT2A obtained from FISH studies with two presenton chromosome 1. Whole chromosome painting provided confirmation for these results. Abnormal expression of CD7 antigen was demonstrated through immunophenotypic evaluation and indicated a poor prognosis. This case study shows that AML with a KMT2A gene rearrangement is associated with an aggressive clinical course and uncommon cytogenetics. It emphasizes the need to use FISH and cytogenetics together for the detection of gene fusions, partner chromosomes, and other cytogenetic aberrations.