Insights

This case study describes atypical chronic lymphocytic leukemia (CLL) presenting as a tonsillar mass. The diagnosis was confirmed despite unusual flow cytometry and cytogenetic findings, highlighting diagnostic challenges in rare CLL presentations.

Area of Science:

  • Hematology
  • Oncology
  • Immunology

Background:

  • Chronic lymphocytic leukemia (CLL) typically presents with specific immunophenotypic markers.
  • Atypical presentations of CLL can pose diagnostic challenges.

Observation:

  • An elderly male presented with a tonsillar mass, initially suspected as lymphoma.
  • Histology showed diffuse submucosal infiltration by small lymphocytes.
  • Flow cytometry revealed a monoclonal B-cell population expressing CD5, CD19, and lambda light chain, but lacking CD10, CD23, and FMC7.

Findings:

  • Molecular cytogenetics identified a t(11;14)(q13;q32) chromosomal translocation.
  • Further molecular studies ruled out bcl-1 gene rearrangement.
  • A diagnosis of CD23-negative CLL was established.

Implications:

  • This case underscores the importance of considering atypical CLL presentations, even with unusual immunophenotypes.
  • The t(11;14) translocation in the absence of bcl-1 rearrangement presents a diagnostic dilemma.
  • Accurate diagnosis requires comprehensive analysis including flow cytometry and molecular studies.