PMID- 31433838 OWN - NLM STAT- MEDLINE DCOM- 20200511 LR - 20200511 IS - 1943-7722 (Electronic) IS - 0002-9173 (Linking) VI - 153 IP - 1 DP - 2020 Jan 1 TI - An Uncommon Case of Double-Hit Mantle Cell Lymphoma That Demonstrates a Transformation Process. PG - 49-57 LID - 10.1093/ajcp/aqz133 [doi] AB - OBJECTIVES: Mantle cell lymphoma (MCL) is a mature B-cell lymphoma characterized by CCND1/IGH rearrangement. We reported a case of MCL harboring both CCND1/IGH and MYC/IGH rearrangements that also presented with an aggressive clinical course. METHODS: Biopsy specimens were evaluated by morphological staining, immunohistochemistry, flow cytometry, conventional cytogenetics, fluorescence in situ hybridization (FISH), and next-generation sequencing (NGS). RESULTS: Morphological and immunohistochemical staining of gallbladder samples demonstrated blastoid variant MCL. However, in the bone marrow sample, FISH indicated rearrangements in CCND1/IGH and MYC/IGH. Flow cytometry identified two groups of malignant lymphocytes. We sorted these two groups of cells. NGS then revealed that both cell types carried CCND1/IGH rearrangements and TP53 mutations. Furthermore, the CD19+/CD10+ cells carried additional MYC/IGH rearrangement and NOTCH2 mutation. CONCLUSIONS: The rearrangement of MYC and a mutation in NOTCH2 probably induced the transformation of MCL cells in this patient. This uncommon double-hit MCL case clearly demonstrates a transformation process. CI - (c) American Society for Clinical Pathology, 2019. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. FAU - Zhou, Jihao AU - Zhou J AD - Department of Hematology, Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, China. FAU - Hu, Lina AU - Hu L AD - Department of Hematology, Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, China. FAU - Zuo, Min AU - Zuo M AD - Department of Pathology, Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, China. FAU - Zhou, Yaying AU - Zhou Y AD - Clinical Medicine Research Center, First Affiliated Hospital of Southern University of Science and Technology, Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, China. FAU - Li, Guoqiang AU - Li G AD - Department of Hematology, Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, China. FAU - Zhang, Xinyou AU - Zhang X AD - Department of Hematology, Second Clinical Medical College of Jinan University, Shenzhen People's Hospital, Shenzhen, China. LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Am J Clin Pathol JT - American journal of clinical pathology JID - 0370470 RN - 0 (CCND1 protein, human) RN - 0 (IGH-CCND1 fusion protein, human) RN - 0 (MYC protein, human) RN - 0 (Oncogene Proteins, Fusion) RN - 0 (Proto-Oncogene Proteins c-myc) RN - 136601-57-5 (Cyclin D1) SB - IM MH - Cell Transformation, Neoplastic MH - Cyclin D1/*genetics MH - Cytogenetics MH - Fatal Outcome MH - Female MH - Gene Rearrangement MH - Humans MH - Immunohistochemistry MH - In Situ Hybridization, Fluorescence MH - Lymphoma, B-Cell/diagnostic imaging/genetics/*pathology MH - Lymphoma, Mantle-Cell/diagnostic imaging/genetics/*pathology/therapy MH - Middle Aged MH - Mutation MH - Oncogene Proteins, Fusion/*genetics MH - Proto-Oncogene Proteins c-myc/*genetics OTO - NOTNLM OT - Double-hit OT - Mantle cell lymphoma OT - Transformation EDAT- 2019/08/23 06:00 MHDA- 2020/05/12 06:00 CRDT- 2019/08/22 06:00 PHST- 2019/08/23 06:00 [pubmed] PHST- 2020/05/12 06:00 [medline] PHST- 2019/08/22 06:00 [entrez] AID - 5552734 [pii] AID - 10.1093/ajcp/aqz133 [doi] PST - ppublish SO - Am J Clin Pathol. 2020 Jan 1;153(1):49-57. doi: 10.1093/ajcp/aqz133.