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JAMA Oncology Diagnostic Test Interpretation
August 2015

IGHV and Interphase Cytogenetics in a Patient With Chronic Lymphocytic Leukemia

Author Affiliations
  • 1Division of Hematology, Department of Internal Medicine, The Ohio State University, Columbus
JAMA Oncol. 2015;1(5):681-682. doi:10.1001/jamaoncol.2015.1297

Six years ago, a white woman in her 60s was incidentally found to have chronic lymphocytic leukemia (CLL) after being noticed to have lymphocytosis during treatment for diverticulitis. Immunophenotyping was typical for CLL, showing expression of CD 5, CD 19, CD 23, CD 38, and dim κ light chain restriction. Fluorescence in situ hybridization was positive for del (13)(q14) in 63% of her cells. Lymphadenopathy was noticed during the initial physical examination and imaging studies. Owing to progressive disease, she was started on therapy with fludarabine and rituximab (FR) 6 months later for 4 cycles, and clinical complete remission was achieved (bone marrow assessment was not done). However, 2.5 years later she experienced disease relapse. Repeated cytogenetic tests showed complex karyotype with del(17)(p13.1) in 35% of her cells as a new abnormality. The immunoglobulin heavy chain (IgHV) gene mutational status was studied at this time and found to be unmutated, with somatic mutation rate of 0%. Owing to developed worsening fatigue and lymphadenopathy, she wanted to discuss treatment options.

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