PMID- 26261659 OWN - NLM STAT- MEDLINE DCOM- 20160516 LR - 20181113 IS - 1936-2625 (Electronic) IS - 1936-2625 (Linking) VI - 8 IP - 6 DP - 2015 TI - Detection of t(12;14)(p13;q32) in a patient with IGH-CCND1 negative mantle cell lymphoma resembling ultra-high risk chronic lymphocytic leukemia. PG - 7494-8 AB - 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. FAU - Miao, Yi AU - Miao Y AD - Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital Nanjing 210029, China. FAU - Wang, Rong AU - Wang R AD - Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital Nanjing 210029, China. FAU - Fan, Lei AU - Fan L AD - Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital Nanjing 210029, China. FAU - Qiu, Hairong AU - Qiu H AD - Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital Nanjing 210029, China. FAU - Wu, Yujie AU - Wu Y AD - Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital Nanjing 210029, China. FAU - Chen, Yaoyu AU - Chen Y AD - Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital Nanjing 210029, China. FAU - Xu, Wei AU - Xu W AD - Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital Nanjing 210029, China. FAU - Li, Jianyong AU - Li J AD - Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital Nanjing 210029, China. LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20150601 PL - United States TA - Int J Clin Exp Pathol JT - International journal of clinical and experimental pathology JID - 101480565 RN - 0 (Biomarkers, Tumor) RN - 0 (CCND1 protein, human) RN - 136601-57-5 (Cyclin D1) SB - IM MH - Antineoplastic Combined Chemotherapy Protocols/therapeutic use MH - Biomarkers, Tumor/analysis/*genetics MH - Bone Marrow Examination MH - *Chromosomes, Human, Pair 12 MH - *Chromosomes, Human, Pair 14 MH - Cyclin D1/*genetics MH - Diagnosis, Differential MH - Diagnostic Errors MH - Disease Progression MH - Fatal Outcome MH - *Genes, Immunoglobulin Heavy Chain MH - Humans MH - Immunohistochemistry MH - Immunophenotyping MH - In Situ Hybridization, Fluorescence MH - Leukemia, Lymphocytic, Chronic, B-Cell/*genetics/immunology/pathology MH - Lymphoma, Mantle-Cell/chemistry/drug therapy/*genetics/immunology/pathology MH - Male MH - Middle Aged MH - Predictive Value of Tests MH - Risk Factors MH - Time Factors MH - *Translocation, Genetic MH - Treatment Outcome PMC - PMC4525993 OTO - NOTNLM OT - CD148 OT - SOX11 OT - cyclin D2 OT - mantle cell lymphoma OT - t(12;14) EDAT- 2015/08/12 06:00 MHDA- 2016/05/18 06:00 PMCR- 2015/06/01 CRDT- 2015/08/12 06:00 PHST- 2015/03/17 00:00 [received] PHST- 2015/05/17 00:00 [accepted] PHST- 2015/08/12 06:00 [entrez] PHST- 2015/08/12 06:00 [pubmed] PHST- 2016/05/18 06:00 [medline] PHST- 2015/06/01 00:00 [pmc-release] PST - epublish SO - Int J Clin Exp Pathol. 2015 Jun 1;8(6):7494-8. eCollection 2015.