PMID- 32408254
OWN - NLM
STAT- MEDLINE
DCOM- 20210610
LR  - 20210610
IS  - 1532-8198 (Electronic)
IS  - 1092-9134 (Linking)
VI  - 46
DP  - 2020 Jun
TI  - Detection of cryptic CCND1 rearrangements in mantle cell lymphoma by next 
      generation sequencing.
PG  - 151533
LID - S1092-9134(20)30074-5 [pii]
LID - 10.1016/j.anndiagpath.2020.151533 [doi]
AB  - The accurate detection of recurrent genetic abnormalities for most hematologic 
      neoplasms is critical for diagnosis, prognosis and/or treatment. Rearrangements 
      involving CCND1 are observed in a subset of mature B-cell neoplasms and can be 
      reliably detected by fluorescence in situ hybridization (FISH) in most cases. 
      However, cryptic and complex chromosomal rearrangements may pose a technical 
      challenge for accurate diagnosis. Herein, we describe two patients with suspected 
      mantle cell lymphoma that lacked obvious CCND1 rearrangements by FISH studies. A 
      next generation sequencing (NGS) based assay, mate-pair sequencing (MPseq), was 
      utilized in each case to investigate potential cryptic CCND1 rearrangements and 
      revealed cryptic insertional events resulting in CCND1/IGH and CCND1/IGK 
      rearrangements. These cases demonstrate that NGS-based assays, including MPseq, 
      are a powerful approach to identify cryptic rearrangements of clinical importance 
      that are not detected by current clinical genomics evaluation.
CI  - Copyright (c) 2020 Elsevier Inc. All rights reserved.
FAU - Polonis, Katarzyna
AU  - Polonis K
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, MN, United States of America.
FAU - Schultz, Matthew J
AU  - Schultz MJ
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, MN, United States of America.
FAU - Olteanu, Horatiu
AU  - Olteanu H
AD  - Division of Hematopathology, Mayo Clinic, Rochester, MN, United States of 
      America.
FAU - Smadbeck, James B
AU  - Smadbeck JB
AD  - Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, 
      MN, United States of America.
FAU - Johnson, Sarah H
AU  - Johnson SH
AD  - Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, 
      MN, United States of America.
FAU - Vasmatzis, George
AU  - Vasmatzis G
AD  - Center for Individualized Medicine-Biomarker Discovery, Mayo Clinic, Rochester, 
      MN, United States of America.
FAU - Xu, Xinjie
AU  - Xu X
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, MN, United States of America.
FAU - Greipp, Patricia T
AU  - Greipp PT
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, MN, United States of America.
FAU - Ketterling, Rhett P
AU  - Ketterling RP
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, MN, United States of America; Division of 
      Hematopathology, Mayo Clinic, Rochester, MN, United States of America.
FAU - Hoppman, Nicole L
AU  - Hoppman NL
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, MN, United States of America.
FAU - Baughn, Linda B
AU  - Baughn LB
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, MN, United States of America.
FAU - Peterson, Jess F
AU  - Peterson JF
AD  - Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine 
      and Pathology, Mayo Clinic, Rochester, MN, United States of America. Electronic 
      address: peterson.jess@mayo.edu.
LA  - eng
PT  - Journal Article
DEP - 20200506
PL  - United States
TA  - Ann Diagn Pathol
JT  - Annals of diagnostic pathology
JID - 9800503
RN  - 0 (CCND1 protein, human)
RN  - 136601-57-5 (Cyclin D1)
SB  - IM
MH  - Aged
MH  - Aged, 80 and over
MH  - Cyclin D1/*genetics
MH  - Female
MH  - Gene Rearrangement/genetics
MH  - High-Throughput Nucleotide Sequencing/*methods
MH  - Humans
MH  - Lymphoma, Mantle-Cell/*genetics
MH  - Sequence Analysis, DNA/*methods
OTO - NOTNLM
OT  - CCND1
OT  - IGH
OT  - IGK
OT  - Mantle cell lymphoma (MCL)
OT  - Mate-pair sequencing (MPseq)
OT  - Next generation sequencing (NGS)
COIS- Declaration of competing interest GV: Algorithms described in this manuscript for 
      mate-pair sequencing are licensed to WholeGenome LLC owned by GV. The remaining 
      authors have no conflicts of interest to disclose.
EDAT- 2020/05/15 06:00
MHDA- 2021/06/11 06:00
CRDT- 2020/05/15 06:00
PHST- 2020/04/30 00:00 [received]
PHST- 2020/05/01 00:00 [accepted]
PHST- 2020/05/15 06:00 [pubmed]
PHST- 2021/06/11 06:00 [medline]
PHST- 2020/05/15 06:00 [entrez]
AID - S1092-9134(20)30074-5 [pii]
AID - 10.1016/j.anndiagpath.2020.151533 [doi]
PST - ppublish
SO  - Ann Diagn Pathol. 2020 Jun;46:151533. doi: 10.1016/j.anndiagpath.2020.151533. 
      Epub 2020 May 6.