Related Experiment Video
Updated: Sep 13, 2025

Enhancing Tumor Content through Tumor Macrodissection
Published on: February 12, 2022
Diffuse Large B-Cell Lymphoma with t(1;22)(q21;q11.2) and t(6;18)(p25;q21): A Case Report
Toshiaki Nagaie1, Yasushi Kubota2, Ichiro Hanamura3
1Department of Internal Medicine, Karatsu Red Cross Hospital, Karatsu 847-8588, Japan.
Insights
This case report details a rare co-occurrence of two chromosomal translocations, t(1;22) and t(6;18), in diffuse large B-cell lymphoma (DLBCL). These genetic alterations were associated with primary refractory disease and poor prognosis.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Diffuse large B-cell lymphoma (DLBCL) is an aggressive non-Hodgkin lymphoma.
- Chromosomal translocations are common in DLBCL and can influence prognosis.
- This report focuses on a rare combination of translocations in a DLBCL patient.
Observation:
- A 72-year-old male with DLBCL presented with primary refractory disease after R-CHOP chemotherapy.
- The patient had documented chromosomal translocations t(1;22)(q21;q11.2) and t(6;18)(p25;q21).
- Fluorescence in situ hybridization (FISH) confirmed breakpoints involving the immunoglobulin lambda locus on chromosome 22 and BCL2 on chromosome 18.
Findings:
- This is the first documented case of co-occurring t(1;22)(q21;q11.2) and t(6;18)(p25;q21) in DLBCL.
- The patient experienced cardiac involvement and ultimately succumbed to the disease approximately 15 months post-diagnosis.
- The identified chromosomal translocations may be indicative of a poorer clinical outcome.
Implications:
- The co-occurrence of these specific translocations may represent a novel indicator for aggressive DLBCL.
- Further research is warranted to elucidate the pathobiology and clinical significance of this translocation combination.
- This case highlights the importance of comprehensive genetic analysis in DLBCL for personalized treatment strategies.
Abstract:
Background and Clinical Significance: This should include a brief introduction about the general medical condition or relevant symptoms that will be discussed in the case report and should succinctly summarize the critical essential clinical information of the case report and emphasize its new and vital aspects. Case Presentation: A 72-year-old man diagnosed with DLBCL involving chromosomal translocations t(1;22)(q21;q11.2) and t(6;18)(p25;q21) showed primary refractory disease after the fourth cycle of R-CHOP. The patient ultimately experienced cardiac involvement due to the lymphoma and received salvage chemotherapy. He passed away about 15 months after the diagnosis of DLBCL. We conducted fluorescence in situ hybridization (FISH) for further analysis of the chromosomal translocations. The breakpoint of chromosome 1q21 was located at a distance of around 151 Mb from the telomeric end of chromosome 1p. The breakpoint in chromosome 22q11 contains the immunoglobulin lambda locus. Furthermore, the breakpoint of chromosome 6p was in the telomeric region of chromosome 6p21. The breakpoint of chromosome 18q21 contains BCL2. Conclusions: This case report presents the first documented co-occurrence of chromosomal translocations t(1;22)(q21;q11.2) and t(6;18)(p25;q21) in a patient with DLBCL. These chromosomal translocations may indicate a worse clinical outcome.

