Duplication of Chromosome 1p in B-cell Chronic Lymphocytic Leukemia: A Gujarat Cancer and Research Institute Experience
Year: 2026
Type: article
Study design: Case Report
Abstract: Case DesCriptionA 68-year-old male presented in May 2025 with fatigue and generalized lymphadenopathy.Investigations showed anemia, marked lymphocytosis, and thrombocytopenia.A peripheral smear revealed smudge cells, and a bone marrow biopsy demonstrated over 70% infiltration by small mature lymphocytes.Flow cytometry confirmed B-cell chronic lymphocytic leukemia (B-CLL), with cells positive for CD200, CD20, CD5, dim CD23, and kappa light chain, and negative for CD10, FMC7, and lambda.Imaging indicated diffuse lymphadenopathy and hepatosplenomegaly.Biochemical tests showed mild hypercalcemia, elevated uric acid, and raised lactate dehydrogenase (LDH), suggesting a high tumor burden.Serology introDuCtion Chronic lymphocytic leukemia (CLL) is a monoclonal B-cell malignancy and the most common adult leukemia in the West, accounting for about 25% of all cases.It mainly affects older men, with a median diagnosis age of around 70 years.1 The disease features the slow buildup of defective CD5+ B cells in blood, marrow, and lymphoid organs. 2 These cells survive due to defective apoptosis, causing marrow failure and immune dysfunction.3 CLL shows variable progression, from indolent to aggressive forms.The Rai and Binet staging systems help classify risk but are inadequate for targeted therapy decisions.Cytogenetic and molecular testing are now central to diagnosis and prognosis.4 Deletion 13q14 suggests a good prognosis, while del(11q22-23) and del(17p13) predict poor outcomes.Trisomy 12 indicates intermediate risk and atypical features.5,6 Rare 1p abnormalities may hold prognostic value, affecting genes such as CDKN2C and RAD54, which are related to apoptosis and deoxyribonucleic acid (DNA) repair.Gains or translocations of 1p disrupt expression and promote genomic instability.Such chromosome 1 lesions across lymphoid cancers indicate shared oncogenic pathways and potential DNA repair-based therapeutic targets. 1 Although rare in CLL, 1p duplication represents a significant genetic event associated with genomic instability, disease progression, and possible treatment resistance.Combining conventional karyotyping with FISH, especially with mitogen stimulation, enhances the detection of such abnormalities.This approach is valuable in atypical cases or refractory disease.Further research on 1p and other uncommon alterations may refine risk stratification and reveal novel therapeutic targets (Fig. 1).
Institution: Gujarat Cancer & Research Institute
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
OpenAlex ID: W7166864819