An Isochromosome 9q: A Rare Event in Pediatric B-ALL

Babu Sruthi; Tahmeena Ahmed; Rodrigo Hurtado; Ann-Leslie Berger-Zaslav; Daniel Tully; Htien Lee; Gabriela Evans; Cynthia Poerio; Carlos A Tirado

An Isochromosome 9q: A Rare Event in Pediatric B-ALL

J Assoc Genet Technol. 2023;49(3):127-132.

Authors

Babu Sruthi¹, Tahmeena Ahmed^{2

1}, Rodrigo Hurtado³, Ann-Leslie Berger-Zaslav^{2

1}, Daniel Tully², Htien Lee², Gabriela Evans², Cynthia Poerio², Carlos A Tirado^{3

2

1}

Affiliations

¹ Department of Pathology, Renaissance School of Medicine, Stony Brook University.
² The Cytogenetics Lab at the Department of Pathology, Stony Brook University Hospital.
³ The International Circle of Genetics Studies, Stony Brook Chapter.

PMID: 37665723

Abstract

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.