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Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
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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.

Reports (MDPI)
|July 29, 2025
PubMed
Summary

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.

Keywords:
1q21BCL2diffuse large B-cell lymphomafluorescence in situ hybridizationimmunoglobulin lambda

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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.