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An Aggressive Presentation of Mantle Cell Lymphoma With Unique Molecular Features
Arati A Inamdar1, Abraham Loo2, Nagy Mikhail3
1Pathology, RWJBarnabas Health, Livingston, USA.
Cureus
|October 14, 2021
Summary
Mantle cell lymphoma (MCL) is an aggressive cancer. New genetic mutations in FAT1, IKZF3, and TRAF2 were discovered in an MCL patient, offering potential new diagnostic and therapeutic targets.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Mantle cell lymphoma (MCL) is an aggressive non-Hodgkin lymphoma (NHL) with poor prognosis.
- MCL pathogenesis involves complex molecular alterations affecting cell cycle, DNA damage, and survival pathways.
- Current prognostic markers include MIPI score, TP53, and CDKN2A alterations.
Observation:
- A 74-year-old male presented with urinary complaints, leukocytosis, lymphocytosis, and lymphadenopathies.
- Diagnosis of MCL was confirmed in peripheral blood, bone marrow, and colon.
- Aggressive presentation prompted next-generation sequencing.
Findings:
- Next-generation sequencing identified novel mutations in FAT1, IKZF3, and TRAF2 in the MCL patient.
- These mutations have not been previously reported in MCL.
- These genetic aberrations may contribute to the aggressive clinical presentation.
Implications:
- Discovery of novel mutations (FAT1, IKZF3, TRAF2) in MCL.
- These findings could lead to new biomarkers for diagnosis and prognosis.
- Further research with in vitro and animal models is warranted to investigate pathogenicity and therapeutic potential.
