Reports of Rare Translocation in Chinese Patients With CLL
Posted: Thursday, February 4, 2021
A study conducted in China reported three cases of chronic lymphocytic leukemia (CLL) with a rare translocation between chromosomes 14q32 and 19q13, leading to a fusion between immunoglobulin heavy chain (IGH) and BCL3. This fusion protein was also associated with complex karyotypes, a novel negative prognostic marker. Li et al, of Tongji Medical College in Wuhan, China, published their findings in Frontiers in Oncology.
“Early identification of this abnormality in CLL patients is so important that patients can benefit from the more aggressive treatments at the onset of the disease,” concluded the authors.
The researchers identified three cases of t(14;19) translocation from a population of 200 patients with CLL who presented to their hospital between 2017 and 2019. All three patients were relatively young, with an average age of 50 years. They all had evidence of atypical cellular morphology with either cleaved nuclei or lymphocytoplasmacytic features. These patients were evaluated for various clinicopathologic features using cytogenetic analysis, histopathologic features, and next-generation sequencing technology. Li et al then compared these three patients to patients previously identified to have the same translocation in Western countries.
The three patients exhibited similar atypical morphologic features, immunophenotypes, and a progressive disease process comparable to patients with the same mutation in Western countries. Patients also had low CLL scores as detected by flow cytometry. Two of these patients had highly complex karyotypes, defined as five or more abnormalities. When this new information was combined with previously reported cases of CLL with t(14;19), highly complex karyotypes were seen in 25.3% of cases.
Next-generation sequencing identified a mutation in both TP53 and FBXW7 in one of the patients. The TP53 mutation was an independent negative prognostic indicator.
Disclosure: The authors reported no conflicts of interest.