Abstract
Background: Multiple myeloma (MM) is a genetically heterogeneous plasma cell malignancy with cytogenetic abnormalities influencing prognosis and treatment outcomes. Fluorescence in situ hybridization (FISH) is crucial for detecting clinically significant abnormalities, including IGH translocations and deletions (e.g., del(17p)), particularly in non-dividing plasma cells. However, cost and accessibility challenges limit comprehensive testing in resource-constrained settings like Thailand. Objectives: To investigate the incidence of cytogenetic abnormalities detected by FISH in MM cases over seven years in a Thai population, highlighting regional trends and barriers to comprehensive testing. Methods: A retrospective analysis was conducted on 360 bone marrow samples from MM patients between 2018 and 2024. FISH analysis targeted key abnormalities using specific probes: t(4;14), t(11;14), t(14;16), del(17p), and 1q21 amplification. Demographic data and testing frequencies were analyzed, and prevalence rates of abnormalities were reported. Results: Among 360 cases, 47.4% exhibited abnormalities. The most common were del(17p) (30.6%), del(13q) (16.9%), and t(4;14) (6.9%). Testing limitations led to selective probe usage, with del(17p) probes ordered in 96.7% of cases, while 1q21 amplification probes were ordered in only 3.3%. Regional trends revealed lower frequencies of t(11;14) compared to Western cohorts, suggesting ethnic influences. Conclusions: FISH analysis revealed critical cytogenetic abnormalities in Thai MM patients. However, financial constraints limited comprehensive testing, potentially hindering optimal risk stratification and treatment. Expanding diagnostic accessibility and integrating advanced technologies like next-generation sequencing could address these barriers and improve outcomes.
DOI
10.56808/2673-060X.5594
First Page
Introduction Multiple myeloma (MM) is a plasma cell malignancy characterized by clonal proliferation in the bone marrow, leading to organ damage such as hypercalcemia, renal dysfunction, anemia, and bone lesions (CRAB criteria). It is a genetically heterogeneous disease with various cytogenetic and molecular abnormalities that influence its clinical presentation, prognosis, and treatment response (1, 2). Key genetic alterations include chromosomal translocations involving the immunoglobulin heavy chain (IGH) locus on chromosome 14q32, such as t(4;14), t(11;14), and t(14;16), as well as chromosomal gains (e.g., trisomies) and deletions (e.g., del(17p), del(13q)) (3). These changes contribute to MM pathogenesis by deregulating oncogenes and tumor suppressor genes. MM is further classified into hyperdiploid (characterized by trisomies) and non-hyperdiploid (harboring translocations) subtypes. This genetic heterogeneity underpins the disease’s diverse clinical behavior, necessitating personalized treatment strategies based on cytogenetic and molecular profiling to improve patient outcomes (3).
Last Page
Targeted Genomics Panel for Molecular Profiling of Patients with Multiple Myeloma. Clin Cancer Res. 2022;28(13):2854-64.
Recommended Citation
Tansatit, Montakarn; Jongpornchai, Nutcharee; Songchart, Suwannee; Krajokpap, Kittipornpan; and Da-oh, Hudadini
(2025)
"Incidence of Cytogenetic Abnormalities Detected by FISH Analysis in Multiple Myeloma Cases: A Seven-Year Study from a Cytogenetic Laboratory in King Chulalongkorn Memorial Hospital, Thailand (2018–2024),"
Chulalongkorn Medical Journal: Vol. 69:
Iss.
4, Article 1.
DOI: https://doi.org/10.56808/2673-060X.5594
Available at:
https://digital.car.chula.ac.th/clmjournal/vol69/iss4/1
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