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Chromothripsis

MedGen UID:
908945
Concept ID:
C4277538
Cell or Molecular Dysfunction
Synonyms: Chromosome Shattering; Chromosome Shatterings; Chromothripses; Shattering, Chromosome

Definition

A cytogenetic abnormality characterized by the occurrence of a large number of chromosomal rearrangements that are restricted to sites in one or a few chromosomes. Chromothripsis may result from a single catastrophic event that causes multiple double-strand breaks, which are subsequently repaired or reassembled by error-prone DNA repair pathways or through aberrant DNA replication mechanisms. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChromothripsis

Professional guidelines

PubMed

Rosell R, Karachaliou N, Arrieta O
Curr Opin Oncol 2020 Jan;32(1):37-43. doi: 10.1097/CCO.0000000000000590. PMID: 31599770
Reece AS, Hulse GK
Mutat Res 2016 Jul;789:15-25. Epub 2016 May 4 doi: 10.1016/j.mrfmmm.2016.05.002. PMID: 27208973
Korbel JO, Campbell PJ
Cell 2013 Mar 14;152(6):1226-36. doi: 10.1016/j.cell.2013.02.023. PMID: 23498933

Recent clinical studies

Etiology

Steele CD, Abbasi A, Islam SMA, Bowes AL, Khandekar A, Haase K, Hames-Fathi S, Ajayi D, Verfaillie A, Dhami P, McLatchie A, Lechner M, Light N, Shlien A, Malkin D, Feber A, Proszek P, Lesluyes T, Mertens F, Flanagan AM, Tarabichi M, Van Loo P, Alexandrov LB, Pillay N
Nature 2022 Jun;606(7916):984-991. Epub 2022 Jun 15 doi: 10.1038/s41586-022-04738-6. PMID: 35705804Free PMC Article
Hayashi A, Hong J, Iacobuzio-Donahue CA
Nat Rev Gastroenterol Hepatol 2021 Jul;18(7):469-481. Epub 2021 Jun 4 doi: 10.1038/s41575-021-00463-z. PMID: 34089011
Neuse CJ, Lomas OC, Schliemann C, Shen YJ, Manier S, Bustoros M, Ghobrial IM
Leukemia 2020 Nov;34(11):2887-2897. Epub 2020 Jul 10 doi: 10.1038/s41375-020-0921-y. PMID: 32651540
Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, Johann PD, Balasubramanian GP, Segura-Wang M, Brabetz S, Bender S, Hutter B, Sturm D, Pfaff E, Hübschmann D, Zipprich G, Heinold M, Eils J, Lawerenz C, Erkek S, Lambo S, Waszak S, Blattmann C, Borkhardt A, Kuhlen M, Eggert A, Fulda S, Gessler M, Wegert J, Kappler R, Baumhoer D, Burdach S, Kirschner-Schwabe R, Kontny U, Kulozik AE, Lohmann D, Hettmer S, Eckert C, Bielack S, Nathrath M, Niemeyer C, Richter GH, Schulte J, Siebert R, Westermann F, Molenaar JJ, Vassal G, Witt H; ICGC PedBrain-Seq Project; ICGC MMML-Seq Project, Burkhardt B, Kratz CP, Witt O, van Tilburg CM, Kramm CM, Fleischhack G, Dirksen U, Rutkowski S, Frühwald M, von Hoff K, Wolf S, Klingebiel T, Koscielniak E, Landgraf P, Koster J, Resnick AC, Zhang J, Liu Y, Zhou X, Waanders AJ, Zwijnenburg DA, Raman P, Brors B, Weber UD, Northcott PA, Pajtler KW, Kool M, Piro RM, Korbel JO, Schlesner M, Eils R, Jones DTW, Lichter P, Chavez L, Zapatka M, Pfister SM
Nature 2018 Mar 15;555(7696):321-327. Epub 2018 Feb 28 doi: 10.1038/nature25480. PMID: 29489754
Weckselblatt B, Rudd MK
Trends Genet 2015 Oct;31(10):587-599. Epub 2015 Jul 22 doi: 10.1016/j.tig.2015.05.010. PMID: 26209074Free PMC Article

Diagnosis

Parry EM, Leshchiner I, Guièze R, Johnson C, Tausch E, Parikh SA, Lemvigh C, Broséus J, Hergalant S, Messer C, Utro F, Levovitz C, Rhrissorrakrai K, Li L, Rosebrock D, Yin S, Deng S, Slowik K, Jacobs R, Huang T, Li S, Fell G, Redd R, Lin Z, Knisbacher BA, Livitz D, Schneider C, Ruthen N, Elagina L, Taylor-Weiner A, Persaud B, Martinez A, Fernandes SM, Purroy N, Anandappa AJ, Ma J, Hess J, Rassenti LZ, Kipps TJ, Jain N, Wierda W, Cymbalista F, Feugier P, Kay NE, Livak KJ, Danysh BP, Stewart C, Neuberg D, Davids MS, Brown JR, Parida L, Stilgenbauer S, Getz G, Wu CJ
Nat Med 2023 Jan;29(1):158-169. Epub 2023 Jan 9 doi: 10.1038/s41591-022-02113-6. PMID: 36624313Free PMC Article
Herrington CS, Poulsom R, Pillay N, Bankhead P, Coates PJ
J Pathol 2022 Jul;257(4):379-382. doi: 10.1002/path.5972. PMID: 35635736
Vendramin R, Litchfield K, Swanton C
EMBO J 2021 Sep 15;40(18):e108389. Epub 2021 Aug 30 doi: 10.15252/embj.2021108389. PMID: 34459009Free PMC Article
Hayashi A, Hong J, Iacobuzio-Donahue CA
Nat Rev Gastroenterol Hepatol 2021 Jul;18(7):469-481. Epub 2021 Jun 4 doi: 10.1038/s41575-021-00463-z. PMID: 34089011
Carbone M, Adusumilli PS, Alexander HR Jr, Baas P, Bardelli F, Bononi A, Bueno R, Felley-Bosco E, Galateau-Salle F, Jablons D, Mansfield AS, Minaai M, de Perrot M, Pesavento P, Rusch V, Severson DT, Taioli E, Tsao A, Woodard G, Yang H, Zauderer MG, Pass HI
CA Cancer J Clin 2019 Sep;69(5):402-429. Epub 2019 Jul 8 doi: 10.3322/caac.21572. PMID: 31283845Free PMC Article

Therapy

Klaasen SJ, Truong MA, van Jaarsveld RH, Koprivec I, Štimac V, de Vries SG, Risteski P, Kodba S, Vukušić K, de Luca KL, Marques JF, Gerrits EM, Bakker B, Foijer F, Kind J, Tolić IM, Lens SMA, Kops GJPL
Nature 2022 Jul;607(7919):604-609. Epub 2022 Jul 13 doi: 10.1038/s41586-022-04938-0. PMID: 35831506Free PMC Article
Tsao AS, Pass HI, Rimner A, Mansfield AS
J Clin Oncol 2022 Feb 20;40(6):681-692. Epub 2022 Jan 5 doi: 10.1200/JCO.21.01567. PMID: 34985934Free PMC Article
Choi J, Manzano A, Dong W, Bellone S, Bonazzoli E, Zammataro L, Yao X, Deshpande A, Zaidi S, Guglielmi A, Gnutti B, Nagarkatti N, Tymon-Rosario JR, Harold J, Mauricio D, Zeybek B, Menderes G, Altwerger G, Jeong K, Zhao S, Buza N, Hui P, Ravaggi A, Bignotti E, Romani C, Todeschini P, Zanotti L, Odicino F, Pecorelli S, Ardighieri L, Bilguvar K, Quick CM, Silasi DA, Huang GS, Andikyan V, Clark M, Ratner E, Azodi M, Imielinski M, Schwartz PE, Alexandrov LB, Lifton RP, Schlessinger J, Santin AD
Proc Natl Acad Sci U S A 2021 Apr 13;118(15) doi: 10.1073/pnas.2025182118. PMID: 33876771Free PMC Article
Carbone M, Adusumilli PS, Alexander HR Jr, Baas P, Bardelli F, Bononi A, Bueno R, Felley-Bosco E, Galateau-Salle F, Jablons D, Mansfield AS, Minaai M, de Perrot M, Pesavento P, Rusch V, Severson DT, Taioli E, Tsao A, Woodard G, Yang H, Zauderer MG, Pass HI
CA Cancer J Clin 2019 Sep;69(5):402-429. Epub 2019 Jul 8 doi: 10.3322/caac.21572. PMID: 31283845Free PMC Article
Kansara M, Teng MW, Smyth MJ, Thomas DM
Nat Rev Cancer 2014 Nov;14(11):722-35. Epub 2014 Oct 16 doi: 10.1038/nrc3838. PMID: 25319867

Prognosis

Herrington CS, Poulsom R, Pillay N, Bankhead P, Coates PJ
J Pathol 2022 Jul;257(4):379-382. doi: 10.1002/path.5972. PMID: 35635736
Tsao AS, Pass HI, Rimner A, Mansfield AS
J Clin Oncol 2022 Feb 20;40(6):681-692. Epub 2022 Jan 5 doi: 10.1200/JCO.21.01567. PMID: 34985934Free PMC Article
Neuse CJ, Lomas OC, Schliemann C, Shen YJ, Manier S, Bustoros M, Ghobrial IM
Leukemia 2020 Nov;34(11):2887-2897. Epub 2020 Jul 10 doi: 10.1038/s41375-020-0921-y. PMID: 32651540
Dong Z, Yan J, Xu F, Yuan J, Jiang H, Wang H, Chen H, Zhang L, Ye L, Xu J, Shi Y, Yang Z, Cao Y, Chen L, Li Q, Zhao X, Li J, Chen A, Zhang W, Wong HG, Qin Y, Zhao H, Chen Y, Li P, Ma T, Wang WJ, Kwok YK, Jiang Y, Pursley AN, Chung JPW, Hong Y, Kristiansen K, Yang H, Piña-Aguilar RE, Leung TY, Cheung SW, Morton CC, Choy KW, Chen ZJ
Am J Hum Genet 2019 Dec 5;105(6):1102-1111. Epub 2019 Oct 31 doi: 10.1016/j.ajhg.2019.10.003. PMID: 31679651Free PMC Article
Carbone M, Adusumilli PS, Alexander HR Jr, Baas P, Bardelli F, Bononi A, Bueno R, Felley-Bosco E, Galateau-Salle F, Jablons D, Mansfield AS, Minaai M, de Perrot M, Pesavento P, Rusch V, Severson DT, Taioli E, Tsao A, Woodard G, Yang H, Zauderer MG, Pass HI
CA Cancer J Clin 2019 Sep;69(5):402-429. Epub 2019 Jul 8 doi: 10.3322/caac.21572. PMID: 31283845Free PMC Article

Clinical prediction guides

Herrington CS, Poulsom R, Pillay N, Bankhead P, Coates PJ
J Pathol 2022 Jul;257(4):379-382. doi: 10.1002/path.5972. PMID: 35635736
Tsao AS, Pass HI, Rimner A, Mansfield AS
J Clin Oncol 2022 Feb 20;40(6):681-692. Epub 2022 Jan 5 doi: 10.1200/JCO.21.01567. PMID: 34985934Free PMC Article
Neuse CJ, Lomas OC, Schliemann C, Shen YJ, Manier S, Bustoros M, Ghobrial IM
Leukemia 2020 Nov;34(11):2887-2897. Epub 2020 Jul 10 doi: 10.1038/s41375-020-0921-y. PMID: 32651540
Quigley DA, Dang HX, Zhao SG, Lloyd P, Aggarwal R, Alumkal JJ, Foye A, Kothari V, Perry MD, Bailey AM, Playdle D, Barnard TJ, Zhang L, Zhang J, Youngren JF, Cieslik MP, Parolia A, Beer TM, Thomas G, Chi KN, Gleave M, Lack NA, Zoubeidi A, Reiter RE, Rettig MB, Witte O, Ryan CJ, Fong L, Kim W, Friedlander T, Chou J, Li H, Das R, Li H, Moussavi-Baygi R, Goodarzi H, Gilbert LA, Lara PN Jr, Evans CP, Goldstein TC, Stuart JM, Tomlins SA, Spratt DE, Cheetham RK, Cheng DT, Farh K, Gehring JS, Hakenberg J, Liao A, Febbo PG, Shon J, Sickler B, Batzoglou S, Knudsen KE, He HH, Huang J, Wyatt AW, Dehm SM, Ashworth A, Chinnaiyan AM, Maher CA, Small EJ, Feng FY
Cell 2018 Jul 26;174(3):758-769.e9. Epub 2018 Jul 19 doi: 10.1016/j.cell.2018.06.039. PMID: 30033370Free PMC Article
George J, Lim JS, Jang SJ, Cun Y, Ozretić L, Kong G, Leenders F, Lu X, Fernández-Cuesta L, Bosco G, Müller C, Dahmen I, Jahchan NS, Park KS, Yang D, Karnezis AN, Vaka D, Torres A, Wang MS, Korbel JO, Menon R, Chun SM, Kim D, Wilkerson M, Hayes N, Engelmann D, Pützer B, Bos M, Michels S, Vlasic I, Seidel D, Pinther B, Schaub P, Becker C, Altmüller J, Yokota J, Kohno T, Iwakawa R, Tsuta K, Noguchi M, Muley T, Hoffmann H, Schnabel PA, Petersen I, Chen Y, Soltermann A, Tischler V, Choi CM, Kim YH, Massion PP, Zou Y, Jovanovic D, Kontic M, Wright GM, Russell PA, Solomon B, Koch I, Lindner M, Muscarella LA, la Torre A, Field JK, Jakopovic M, Knezevic J, Castaños-Vélez E, Roz L, Pastorino U, Brustugun OT, Lund-Iversen M, Thunnissen E, Köhler J, Schuler M, Botling J, Sandelin M, Sanchez-Cespedes M, Salvesen HB, Achter V, Lang U, Bogus M, Schneider PM, Zander T, Ansén S, Hallek M, Wolf J, Vingron M, Yatabe Y, Travis WD, Nürnberg P, Reinhardt C, Perner S, Heukamp L, Büttner R, Haas SA, Brambilla E, Peifer M, Sage J, Thomas RK
Nature 2015 Aug 6;524(7563):47-53. Epub 2015 Jul 13 doi: 10.1038/nature14664. PMID: 26168399Free PMC Article

Recent systematic reviews

Kirsch-Volders M, Bolognesi C, Ceppi M, Bruzzone M, Fenech M
Mutat Res Rev Mutat Res 2020 Oct-Dec;786:108335. Epub 2020 Sep 15 doi: 10.1016/j.mrrev.2020.108335. PMID: 33339583

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