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Objectives: Acute myeloid leukemia (AML) is a heterogeneous disease, indicated by its many conceivable cytogenetic mutations. Hyperdiploidy is a rare abnormality in AML, more prevalent in children than adults, with few other distinguishing associations. Chromosome totals above 49 in AML are very rare (2%). AML with hyperdiploidy can first be categorized as low or high hyperdiploidy (HH) based on modal chromosome number. High hyperdiploidy is then subcategorized into adverse, structural, or numerical HH. Across all three subtypes of HH, gains of chromosomes 8, 13, and 21 are the most frequent. Although the general survival outcomes of HH AML have remained inconsistent across several different studies, prognosis often relies on the modal chromosome number of the patient, with higher numbers having significantly poorer overall survival rates (OS). Here, we present an 80-year-old male patient with AML showing an abnormal karyotype presenting 78 to 81 chromosomes., (Copyright© by the Association of Genetic Technologists.)

Objectives: Identifying therapy-related AML (t-AML) of newly diagnosed acute leukemias is of great interest. Development of t-AML can occur after cytotoxic chemotherapy and/or radiation. We report a case of t-AML with CBFB::MYH11 fusion in a patient with a distant history of treated stage IIIB nodular sclerosing Hodgkin's lymphoma. We present the clinical course of the patient and the methods used to detect and monitor the rearrangement. Core binding factor AML (CBF-AML) after exposure to treatment is considered to be a good prognostic marker. The identification of these favorable AML subtypes such as CBF-AML highlights the importance of identifying genetic alterations, especially with increasing incidences of t-AML due to changes in choice of treatment and prognosis., (Copyright© by the Association of Genetic Technologists.)

Objectives: B-cell acute lymphoblastic leukemia (B-ALL) is one of the most common leukemias affecting the pediatric population. It represents ~25% of cancer diagnoses among children. Specific genetic changes predict the prognosis in B-ALL with recurrent genetic changes. Here we present a case report of a 20-year-old male with B-ALL. The patient presented with acute onset worsening upper extremity pain with pallor, weight loss, dizziness, fatigue, and abnormal complete blood count (CBC). Conventional cytogenetics showed a karyotype of 46,XY,add(9)(q13),i(9)(q10)[19]. DNA FISH analysis performed on the bone marrow showed hemizygous deletion of the 9p21(CDKN2A) in 15.5% of the nuclei examined. The presence of an isochromosome 9q [i(9)(q10) is a rare event in pediatric B-ALL. An isochromosome 9q occurs in 0.6% of the patients studied in the literature. The significance of this abnormality in pediatric B-ALL is not clear. Profiling cases like this to understand the molecular mechanisms of rare chromosomal abnormalities and rare mutations in children with B-ALL could help us to better treat them., (Copyright© by the Association of Genetic Technologists.)