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Clonal hematopoiesis of indeterminate potential

MedGen UID:
1681237
Concept ID:
C4761612
Disease or Syndrome
Synonyms: CHIP Clonal Hematopoiesis of Indeterminate Potential; Clonal Hematopoiesis of Indeterminate Potential
 
Monarch Initiative: MONDO:0100543

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

Andrews C, Conneally E, Langabeer SE
Expert Rev Mol Diagn 2023 Jul-Dec;23(12):1077-1090. Epub 2023 Dec 15 doi: 10.1080/14737159.2023.2277370. PMID: 37999991
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
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

Stone PH, Libby P, Boden WE
JAMA Cardiol 2023 Feb 1;8(2):192-201. doi: 10.1001/jamacardio.2022.3926. PMID: 36515941Free 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

Vlasschaert C, Mack T, Heimlich JB, Niroula A, Uddin MM, Weinstock J, Sharber B, Silver AJ, Xu Y, Savona M, Gibson C, Lanktree MB, Rauh MJ, Ebert BL, Natarajan P, Jaiswal S, Bick AG
Blood 2023 May 4;141(18):2214-2223. doi: 10.1182/blood.2022018825. PMID: 36652671Free PMC Article
Stone PH, Libby P, Boden WE
JAMA Cardiol 2023 Feb 1;8(2):192-201. doi: 10.1001/jamacardio.2022.3926. PMID: 36515941Free 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

Nissen SE, Menon V, Nicholls SJ, Brennan D, Laffin L, Ridker P, Ray KK, Mason D, Kastelein JJP, Cho L, Libby P, Li N, Foody J, Louie MJ, Lincoff AM
JAMA 2023 Jul 11;330(2):131-140. doi: 10.1001/jama.2023.9696. PMID: 37354546Free PMC Article
Chen B, Yan Y, Wang H, Xu J
Aging Cell 2023 Jul;22(7):e13874. Epub 2023 May 26 doi: 10.1111/acel.13874. PMID: 37232505Free PMC Article
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
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

Wachter F, Pikman Y
Acta Haematol 2024;147(2):229-246. Epub 2024 Feb 16 doi: 10.1159/000536152. PMID: 38228114
Onnis C, Virmani R, Kawai K, Nardi V, Lerman A, Cademartiri F, Scicolone R, Boi A, Congiu T, Faa G, Libby P, Saba L
Circulation 2024 Jan 16;149(3):251-266. doi: 10.1161/CIRCULATIONAHA.123.065657. PMID: 38227718Free PMC Article
Stone PH, Libby P, Boden WE
JAMA Cardiol 2023 Feb 1;8(2):192-201. doi: 10.1001/jamacardio.2022.3926. PMID: 36515941Free 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

Clinical prediction guides

Stone PH, Libby P, Boden WE
JAMA Cardiol 2023 Feb 1;8(2):192-201. doi: 10.1001/jamacardio.2022.3926. PMID: 36515941Free PMC Article
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

Guarnera L, Pascale MR, Hajrullaj H, Cristiano A, Mallegni F, Onorato A, Voso MT, Fabiani E
Ann Hematol 2024 Sep;103(9):3507-3517. Epub 2024 Jul 20 doi: 10.1007/s00277-024-05803-y. PMID: 39031199Free PMC Article
Singh J, Li N, Ashrafi E, Thao LTP, Curtis DJ, Wood EM, McQuilten ZK
Blood Adv 2024 Jul 23;8(14):3771-3784. doi: 10.1182/bloodadvances.2024013228. PMID: 38838228Free PMC Article
Chen B, Yan Y, Wang H, Xu J
Aging Cell 2023 Jul;22(7):e13874. Epub 2023 May 26 doi: 10.1111/acel.13874. PMID: 37232505Free PMC Article

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