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Detection of t(12;14)(p13;q32) in a patient with IGH-CCND1 negative mantle cell lymphoma resembling ultra-high risk chronic lymphocytic leukemia.
- Source :
-
International journal of clinical and experimental pathology [Int J Clin Exp Pathol] 2015 Jun 01; Vol. 8 (6), pp. 7494-8. Date of Electronic Publication: 2015 Jun 01 (Print Publication: 2015). - Publication Year :
- 2015
-
Abstract
- T(12;14)(p13;q32) is a rare recurrent chromosomal translocation, which has only been identified in a small subgroup of mantle cell lymphoma (MCL) without typical t(11;14)(q13;q32). This rearrangement causes aberrant over-expression of cyclin D2 (CCND2), which disrupts the normal cell cycle. Here we report a subtle case of MCL with t(12;14)(p13;q32) that was initially misdiagnosed as ultra-high risk chronic lymphocytic leukemia (CLL). A 60-year-old male patient presented with obvious leukocytosis and progressive weakness. Morphology of peripheral blood and immunophenotyping by flow cytometry pointed to a diagnosis of chronic lymphocytic leukemia. Fluorescence in situ hybridization (FISH) using IGH-CCND1 probe was negative for CCND1 abnormality, but demonstrated IGH breakapart signals. The initial diagnosis of CLL was established and the patient was treated with six courses of immunochemotherpy with fludarabine, cyclophosphamide and rituximab (FCR). Complete remission (CR) was achieved at the end of treatment, but disease relapsed quickly. The patient was transferred to our hospital, flow cytometry using additional markers showed that the clonal cells were CD200+(dim), CD148+(strong), and chromosome analysis revealed a complex karyotype, 47, XY, t(12;14)(p13;q32), +12, del(9p21), which indicated over-expression of CCND2, and immunostaining showed strong positivity of SOX11 further confirming the characteristics of CCND1-negtive MCL. The final diagnosis was revised to rare subtype of MCL with CCND2 translocation and intensive regimens were employed. This confusable MCL case illustrates the importance of cytogenetic analysis and clinicopathologic diagnosis of this rare category of MCL.
- Subjects :
- Antineoplastic Combined Chemotherapy Protocols therapeutic use
Biomarkers, Tumor analysis
Bone Marrow Examination
Diagnosis, Differential
Diagnostic Errors
Disease Progression
Fatal Outcome
Humans
Immunohistochemistry
Immunophenotyping
In Situ Hybridization, Fluorescence
Leukemia, Lymphocytic, Chronic, B-Cell immunology
Leukemia, Lymphocytic, Chronic, B-Cell pathology
Lymphoma, Mantle-Cell chemistry
Lymphoma, Mantle-Cell drug therapy
Lymphoma, Mantle-Cell immunology
Lymphoma, Mantle-Cell pathology
Male
Middle Aged
Predictive Value of Tests
Risk Factors
Time Factors
Treatment Outcome
Biomarkers, Tumor genetics
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 14
Cyclin D1 genetics
Genes, Immunoglobulin Heavy Chain
Leukemia, Lymphocytic, Chronic, B-Cell genetics
Lymphoma, Mantle-Cell genetics
Translocation, Genetic
Subjects
Details
- Language :
- English
- ISSN :
- 1936-2625
- Volume :
- 8
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- International journal of clinical and experimental pathology
- Publication Type :
- Academic Journal
- Accession number :
- 26261659