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Clonal Hematopoiesis of Indeterminate Potential

MedGen UID:
1681237
Concept ID:
C4761612
Disease or Syndrome
Synonym: CHIP Clonal Hematopoiesis of Indeterminate Potential

Definition

A term that refers to the presence of somatic mutations in bone marrow or peripheral blood cells in individuals who may be cytopenic but do not have morphologic evidence of hematologic neoplasia. Its prevalence rises with age and is found in approximately 10% of individuals aged 70 to 80. It is associated with an increased risk of hematologic neoplasia. Mutations in the DNMT3A, TET2, or ASXL1 genes are usually identified. Approximately 10%-40% of individuals with age-related clonal hematopoiesis will progress to meet the diagnostic criteria for clonal hematopoiesis of indeterminate potential. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVClonal Hematopoiesis of Indeterminate Potential

Professional guidelines

PubMed

Krebs MG, Malapelle U, André F, Paz-Ares L, Schuler M, Thomas DM, Vainer G, Yoshino T, Rolfo C
JAMA Oncol 2022 Dec 1;8(12):1830-1839. doi: 10.1001/jamaoncol.2022.4457. PMID: 36264554
Zeeh FC, Meyer SC
Hamostaseologie 2021 Jun;41(3):197-205. Epub 2021 Jun 30 doi: 10.1055/a-1447-6667. PMID: 34192778
Steensma DP
Best Pract Res Clin Haematol 2019 Dec;32(4):101099. Epub 2019 Oct 18 doi: 10.1016/j.beha.2019.101099. PMID: 31779983

Recent clinical studies

Etiology

Asada S, Kitamura T
Cancer Sci 2021 Oct;112(10):3962-3971. Epub 2021 Aug 12 doi: 10.1111/cas.15094. PMID: 34328684Free PMC Article
Marnell CS, Bick A, Natarajan P
J Mol Cell Cardiol 2021 Dec;161:98-105. Epub 2021 Jul 21 doi: 10.1016/j.yjmcc.2021.07.004. PMID: 34298011Free PMC Article
Evans MA, Sano S, Walsh K
Annu Rev Pathol 2020 Jan 24;15:419-438. Epub 2019 Nov 5 doi: 10.1146/annurev-pathmechdis-012419-032544. PMID: 31689371Free PMC Article
Jaiswal S, Natarajan P, Silver AJ, Gibson CJ, Bick AG, Shvartz E, McConkey M, Gupta N, Gabriel S, Ardissino D, Baber U, Mehran R, Fuster V, Danesh J, Frossard P, Saleheen D, Melander O, Sukhova GK, Neuberg D, Libby P, Kathiresan S, Ebert BL
N Engl J Med 2017 Jul 13;377(2):111-121. Epub 2017 Jun 21 doi: 10.1056/NEJMoa1701719. PMID: 28636844Free PMC Article
Steensma DP, Bejar R, Jaiswal S, Lindsley RC, Sekeres MA, Hasserjian RP, Ebert BL
Blood 2015 Jul 2;126(1):9-16. Epub 2015 Apr 30 doi: 10.1182/blood-2015-03-631747. PMID: 25931582Free PMC Article

Diagnosis

Krebs MG, Malapelle U, André F, Paz-Ares L, Schuler M, Thomas DM, Vainer G, Yoshino T, Rolfo C
JAMA Oncol 2022 Dec 1;8(12):1830-1839. doi: 10.1001/jamaoncol.2022.4457. PMID: 36264554
Kim PG, Niroula A, Shkolnik V, McConkey M, Lin AE, Słabicki M, Kemp JP, Bick A, Gibson CJ, Griffin G, Sekar A, Brooks DJ, Wong WJ, Cohen DN, Uddin MM, Shin WJ, Pirruccello J, Tsai JM, Agrawal M, Kiel DP, Bouxsein ML, Richards JB, Evans DM, Wein MN, Charles JF, Jaiswal S, Natarajan P, Ebert BL
J Exp Med 2021 Dec 6;218(12) Epub 2021 Oct 26 doi: 10.1084/jem.20211872. PMID: 34698806Free PMC Article
Tanaka TN, Bejar R
Blood 2019 Mar 7;133(10):1086-1095. Epub 2019 Jan 22 doi: 10.1182/blood-2018-10-844670. PMID: 30670443
Wang SA
Pathobiology 2019;86(1):39-52. Epub 2018 Jun 29 doi: 10.1159/000489341. PMID: 29961056
Steensma DP, Bejar R, Jaiswal S, Lindsley RC, Sekeres MA, Hasserjian RP, Ebert BL
Blood 2015 Jul 2;126(1):9-16. Epub 2015 Apr 30 doi: 10.1182/blood-2015-03-631747. PMID: 25931582Free PMC Article

Therapy

Agashe RP, Lippman SM, Kurzrock R
Mol Cancer Ther 2022 Dec 2;21(12):1757-1764. doi: 10.1158/1535-7163.MCT-22-0323. PMID: 36252553Free PMC Article
Uddin MDM, Nguyen NQH, Yu B, Brody JA, Pampana A, Nakao T, Fornage M, Bressler J, Sotoodehnia N, Weinstock JS, Honigberg MC, Nachun D, Bhattacharya R, Griffin GK, Chander V, Gibbs RA, Rotter JI, Liu C, Baccarelli AA, Chasman DI, Whitsel EA, Kiel DP, Murabito JM, Boerwinkle E, Ebert BL, Jaiswal S, Floyd JS, Bick AG, Ballantyne CM, Psaty BM, Natarajan P, Conneely KN
Nat Commun 2022 Sep 12;13(1):5350. doi: 10.1038/s41467-022-33093-3. PMID: 36097025Free PMC Article
Svensson EC, Madar A, Campbell CD, He Y, Sultan M, Healey ML, Xu H, D'Aco K, Fernandez A, Wache-Mainier C, Libby P, Ridker PM, Beste MT, Basson CT
JAMA Cardiol 2022 May 1;7(5):521-528. doi: 10.1001/jamacardio.2022.0386. PMID: 35385050Free PMC Article
Miller PG, Qiao D, Rojas-Quintero J, Honigberg MC, Sperling AS, Gibson CJ, Bick AG, Niroula A, McConkey ME, Sandoval B, Miller BC, Shi W, Viswanathan K, Leventhal M, Werner L, Moll M, Cade BE, Barr RG, Correa A, Cupples LA, Gharib SA, Jain D, Gogarten SM, Lange LA, London SJ, Manichaikul A, O'Connor GT, Oelsner EC, Redline S, Rich SS, Rotter JI, Ramachandran V, Yu B, Sholl L, Neuberg D, Jaiswal S, Levy BD, Owen CA, Natarajan P, Silverman EK, van Galen P, Tesfaigzi Y, Cho MH, Ebert BL; COPDGene Study Investigators, National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine Consortium
Blood 2022 Jan 20;139(3):357-368. doi: 10.1182/blood.2021013531. PMID: 34855941Free PMC Article
Tanaka TN, Bejar R
Blood 2019 Mar 7;133(10):1086-1095. Epub 2019 Jan 22 doi: 10.1182/blood-2018-10-844670. PMID: 30670443

Prognosis

Ahmad H, Jahn N, Jaiswal S
Annu Rev Med 2023 Jan 27;74:249-260. Epub 2022 Nov 30 doi: 10.1146/annurev-med-042921-112347. PMID: 36450282
Miller PG, Qiao D, Rojas-Quintero J, Honigberg MC, Sperling AS, Gibson CJ, Bick AG, Niroula A, McConkey ME, Sandoval B, Miller BC, Shi W, Viswanathan K, Leventhal M, Werner L, Moll M, Cade BE, Barr RG, Correa A, Cupples LA, Gharib SA, Jain D, Gogarten SM, Lange LA, London SJ, Manichaikul A, O'Connor GT, Oelsner EC, Redline S, Rich SS, Rotter JI, Ramachandran V, Yu B, Sholl L, Neuberg D, Jaiswal S, Levy BD, Owen CA, Natarajan P, Silverman EK, van Galen P, Tesfaigzi Y, Cho MH, Ebert BL; COPDGene Study Investigators, National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine Consortium
Blood 2022 Jan 20;139(3):357-368. doi: 10.1182/blood.2021013531. PMID: 34855941Free PMC Article
Marnell CS, Bick A, Natarajan P
J Mol Cell Cardiol 2021 Dec;161:98-105. Epub 2021 Jul 21 doi: 10.1016/j.yjmcc.2021.07.004. PMID: 34298011Free PMC Article
Evans MA, Sano S, Walsh K
Annu Rev Pathol 2020 Jan 24;15:419-438. Epub 2019 Nov 5 doi: 10.1146/annurev-pathmechdis-012419-032544. PMID: 31689371Free PMC Article
Tanaka TN, Bejar R
Blood 2019 Mar 7;133(10):1086-1095. Epub 2019 Jan 22 doi: 10.1182/blood-2018-10-844670. PMID: 30670443

Clinical prediction guides

Ahmad H, Jahn N, Jaiswal S
Annu Rev Med 2023 Jan 27;74:249-260. Epub 2022 Nov 30 doi: 10.1146/annurev-med-042921-112347. PMID: 36450282
Agashe RP, Lippman SM, Kurzrock R
Mol Cancer Ther 2022 Dec 2;21(12):1757-1764. doi: 10.1158/1535-7163.MCT-22-0323. PMID: 36252553Free PMC Article
Asada S, Kitamura T
Cancer Sci 2021 Oct;112(10):3962-3971. Epub 2021 Aug 12 doi: 10.1111/cas.15094. PMID: 34328684Free PMC Article
Evans MA, Sano S, Walsh K
Annu Rev Pathol 2020 Jan 24;15:419-438. Epub 2019 Nov 5 doi: 10.1146/annurev-pathmechdis-012419-032544. PMID: 31689371Free PMC Article
Steensma DP, Bejar R, Jaiswal S, Lindsley RC, Sekeres MA, Hasserjian RP, Ebert BL
Blood 2015 Jul 2;126(1):9-16. Epub 2015 Apr 30 doi: 10.1182/blood-2015-03-631747. PMID: 25931582Free PMC Article

Recent systematic reviews

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