Literature DB >> 23930239

Chromothripsis in a Case of TP53-Deficient Chronic Lymphocytic Leukemia.

Jianming Pei1, Suresh C Jhanwar, Joseph R Testa.   

Abstract

We describe genomic findings in a case of CLL with del(17p13.1) by FISH, in which SNP array analysis revealed chromothripsis, a phenomenon by which regions of the cancer genome are shattered and recombined to generate frequent oscillations between two DNA copy number states. The findings illustrate the value of SNP arrays for precise whole genome profiling in CLL and for the detection of alterations that would be overlooked with a standard FISH panel. This second report of chromothripsis in CLL indicates that this phenomenon is a recurrent change in this disease.

Entities:  

Keywords:  Chronic lymphocytic leukemia; chromosome microarray analysis; chromothripsis; genomic imbalances; p53

Year:  2012        PMID: 23930239      PMCID: PMC3735199          DOI: 10.1016/j.lrr.2012.09.001

Source DB:  PubMed          Journal:  Leuk Res Rep        ISSN: 2213-0489


  10 in total

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Authors:  Ali Bazargan; Constantine S Tam; Michael J Keating
Journal:  Expert Rev Anticancer Ther       Date:  2012-03       Impact factor: 4.512

2.  Biological and clinical characterization of recurrent 14q deletions in CLL and other mature B-cell neoplasms.

Authors:  Lena Reindl; Ulrike Bacher; Frank Dicker; Tamara Alpermann; Wolfgang Kern; Susanne Schnittger; Torsten Haferlach; Claudia Haferlach
Journal:  Br J Haematol       Date:  2010-07-22       Impact factor: 6.998

3.  Clonal evolution in chronic lymphocytic leukemia: acquisition of high-risk genomic aberrations associated with unmutated VH, resistance to therapy, and short survival.

Authors:  Stephan Stilgenbauer; Sandrine Sander; Lars Bullinger; Axel Benner; Elke Leupolt; Dirk Winkler; Alexander Kröber; Dirk Kienle; Peter Lichter; Hartmut Döhner
Journal:  Haematologica       Date:  2007-08-01       Impact factor: 9.941

4.  Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia.

Authors:  Ankita Patel; Sung-Hae Kang; Patrick Alan Lennon; Yin Feng Li; P Nagesh Rao; Lynne Abruzzo; Chad Shaw; Alan Craig Chinault; Sau W Cheung
Journal:  Am J Hematol       Date:  2008-07       Impact factor: 10.047

Review 5.  Molecular diagnostics in chronic lymphocytic leukemia - pathogenetic and clinical implications.

Authors:  Thorsten Zenz; Daniel Mertens; Hartmut Döhner; Stephan Stilgenbauer
Journal:  Leuk Lymphoma       Date:  2008-05

6.  Clonal evolution including 14q32/IGH translocations in chronic lymphocytic leukemia: analysis of clinicobiologic correlations in 105 patients.

Authors:  Francesco Cavazzini; Lara Rizzotto; Olga Sofritti; Giulia Daghia; Francesca Cibien; Sara Martinelli; Maria Ciccone; Elena Saccenti; Melissa Dabusti; Abbas Awad Elkareem; Antonella Bardi; Elisa Tammiso; Antonio Cuneo; Gian Matteo Rigolin
Journal:  Leuk Lymphoma       Date:  2011-09-13

7.  Genomic aberrations and survival in chronic lymphocytic leukemia.

Authors:  H Döhner; S Stilgenbauer; A Benner; E Leupolt; A Kröber; L Bullinger; K Döhner; M Bentz; P Lichter
Journal:  N Engl J Med       Date:  2000-12-28       Impact factor: 91.245

8.  CD45-deficient severe combined immunodeficiency caused by uniparental disomy.

Authors:  Joseph L Roberts; Rebecca H Buckley; Biao Luo; Jianming Pei; Alla Lapidus; Suraj Peri; Qiong Wei; Jinwook Shin; Roberta E Parrott; Roland L Dunbrack; Joseph R Testa; Xiao-Ping Zhong; David L Wiest
Journal:  Proc Natl Acad Sci U S A       Date:  2012-06-11       Impact factor: 11.205

9.  De novo deletion 17p13.1 chronic lymphocytic leukemia shows significant clinical heterogeneity: the M. D. Anderson and Mayo Clinic experience.

Authors:  Constantine S Tam; Tait D Shanafelt; William G Wierda; Lynne V Abruzzo; Daniel L Van Dyke; Susan O'Brien; Alessandra Ferrajoli; Susan A Lerner; Alice Lynn; Neil E Kay; Michael J Keating
Journal:  Blood       Date:  2009-05-04       Impact factor: 22.113

10.  Massive genomic rearrangement acquired in a single catastrophic event during cancer development.

Authors:  Philip J Stephens; Chris D Greenman; Beiyuan Fu; Fengtang Yang; Graham R Bignell; Laura J Mudie; Erin D Pleasance; King Wai Lau; David Beare; Lucy A Stebbings; Stuart McLaren; Meng-Lay Lin; David J McBride; Ignacio Varela; Serena Nik-Zainal; Catherine Leroy; Mingming Jia; Andrew Menzies; Adam P Butler; Jon W Teague; Michael A Quail; John Burton; Harold Swerdlow; Nigel P Carter; Laura A Morsberger; Christine Iacobuzio-Donahue; George A Follows; Anthony R Green; Adrienne M Flanagan; Michael R Stratton; P Andrew Futreal; Peter J Campbell
Journal:  Cell       Date:  2011-01-07       Impact factor: 41.582

  10 in total
  9 in total

1.  Survival of Del17p CLL Depends on Genomic Complexity and Somatic Mutation.

Authors:  Sunita R Setlur; Jennifer R Brown; Lijian Yu; Haesook T Kim; Siddha Kasar; Parul Benien; Wei Du; Kevin Hoang; Andrew Aw; Bethany Tesar; Reina Improgo; Stacey Fernandes; Saranya Radhakrishnan; Josephine Klitgaard; Charles Lee; Gad Getz
Journal:  Clin Cancer Res       Date:  2016-08-08       Impact factor: 12.531

2.  Overall tumor genomic instability: an important predictor of recurrence-free survival in patients with localized clear cell renal cell carcinoma.

Authors:  Andres F Correa; Karen J Ruth; Tahseen Al-Saleem; Jianming Pei; Essel Dulaimi; Debra Kister; Michelle Collins; Phillip H Abbosh; Michael J Slifker; Eric Ross; Robert G Uzzo; Joseph R Testa
Journal:  Cancer Biol Ther       Date:  2020-03-01       Impact factor: 4.742

3.  Genomic Copy Number Alterations in Renal Cell Carcinoma with Sarcomatoid Features.

Authors:  Timothy Ito; Jianming Pei; Essel Dulaimi; Craig Menges; Philip H Abbosh; Marc C Smaldone; David Y T Chen; Richard E Greenberg; Alexander Kutikov; Rosalia Viterbo; Robert G Uzzo; Joseph R Testa
Journal:  J Urol       Date:  2015-11-18       Impact factor: 7.450

4.  De novo deletion 17p13.1 as a predictor for disease progression in chronic lymphocytic leukemia.

Authors:  Amro M S El-Ghammaz; Essam Abdelwahed; Nevine N Mostafa; Dina A Mansour
Journal:  Clin Exp Med       Date:  2014-10-10       Impact factor: 3.984

5.  Copy neutral loss of heterozygosity in 20q in chronic lymphocytic leukemia/small lymphocytic lymphoma.

Authors:  Jianming Pei; Valentin Robu; Madelyn Feder; Mitchell Cheung; Erin Neumann-Domer; Jacqueline Talarchek; Essel Dulaimi; Michael M Millenson; Joseph R Testa
Journal:  Cancer Genet       Date:  2014-02-15

6.  Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Authors:  P Richter-Pechańska; J B Kunz; J Hof; M Zimmermann; T Rausch; O R Bandapalli; E Orlova; G Scapinello; J C Sagi; M Stanulla; M Schrappe; G Cario; R Kirschner-Schwabe; C Eckert; V Benes; J O Korbel; M U Muckenthaler; A E Kulozik
Journal:  Blood Cancer J       Date:  2017-02-03       Impact factor: 11.037

Review 7.  Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability.

Authors:  Kristyna Zavacka; Karla Plevova
Journal:  Front Oncol       Date:  2021-11-26       Impact factor: 6.244

8.  TP53 Abnormalities Are Underlying the Poor Outcome Associated with Chromothripsis in Chronic Lymphocytic Leukemia Patients with Complex Karyotype.

Authors:  Silvia Ramos-Campoy; Anna Puiggros; Joanna Kamaso; Sílvia Beà; Sandrine Bougeon; María José Larráyoz; Dolors Costa; Helen Parker; Gian Matteo Rigolin; María Laura Blanco; Rosa Collado; Idoya Ancín; Rocío Salgado; Marco A Moro-García; Tycho Baumann; Eva Gimeno; Carol Moreno; Marta Salido; Xavier Calvo; María José Calasanz; Antonio Cuneo; Florence Nguyen-Khac; David Oscier; Claudia Haferlach; Jonathan C Strefford; Jacqueline Schoumans; Blanca Espinet
Journal:  Cancers (Basel)       Date:  2022-07-29       Impact factor: 6.575

9.  Immortalization of human primary prostate epithelial cells via CRISPR inactivation of the CDKN2A locus and expression of telomerase.

Authors:  Ziran Zhao; Holly Fowle; Henkel Valentine; Zemin Liu; Yinfei Tan; Jianming Pei; Simone Badal; Joseph R Testa; Xavier Graña
Journal:  Prostate Cancer Prostatic Dis       Date:  2020-09-01       Impact factor: 5.554

  9 in total

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