Blastoid variant mantle cell lymphoma with complex karyotype including 11q duplication

Area of Science:

• Hematology
• Oncology
• Cytogenetics

Background:

• Mantle cell lymphoma (MCL) is a mature B-cell neoplasm characterized by t(11;14).
• The blastoid variant of MCL is rare and associated with an aggressive clinical course.
• Complex karyotypes in MCL can indicate a poor prognosis.

Purpose of the Study:

• To report a case of blastoid mantle cell lymphoma with a complex karyotype.
• To investigate the genetic abnormalities contributing to the aggressive nature of the disease.
• To explore the correlation between cytogenetic findings and patient prognosis.

Main Methods:

• Conventional cytogenetic analysis.
• Fluorescence in situ hybridization (FISH) using a t(11;14) probe.

Main Results:

• The patient presented with blastoid mantle cell lymphoma and a complex karyotype.
• Structural abnormalities were found on chromosomes 2, 4, 6, 10, 13, 19, and 3 additional marker chromosomes.
• A novel translocation t(1p;11q) and an additional translocation involving 11q and chromosome 1 were identified, leading to 11q duplication and increased cyclin D1 expression.
• FISH confirmed clonal numerical abnormalities of chromosomes 11 and 14 in some cells.
• Multiple chromosomal aberrations were associated with a poor prognosis.

Conclusions:

• The presence of multiple chromosomal aberrations, in addition to the characteristic t(11;14), may negatively impact the clinical course and survival rate of mantle cell lymphoma patients.
• Cytogenetic analysis in MCL cases can reveal novel genetic alterations and provide insights into disease prognosis.
• This case highlights the importance of comprehensive cytogenetic evaluation for understanding aggressive lymphoma subtypes.