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Clonal Cytopenia of Undetermined Significance

MedGen UID:
1781453
Concept ID:
C5442191
Disease or Syndrome
Synonym: CCUS Clonal Cytopenia of Undetermined Significance
SNOMED CT: Clonal cytopenia of undetermined significance (1240417006)

Definition

Clinically meaningful cytopenia in one or more hematopoietic cell lineages. Clonal hematopoiesis is present with the variant allele frequency (VAF) equal or more that 2 percent. There is no other evidence of hematologic malignancy. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Clonal Cytopenia of Undetermined Significance

Professional guidelines

PubMed

Nadal N, Auger N, Bidet A, Nguyen-Khac F
Curr Res Transl Med 2023 Oct-Dec;71(4):103426. Epub 2023 Oct 26 doi: 10.1016/j.retram.2023.103426. PMID: 38016423
Mangaonkar AA, Patnaik MM
Am J Hematol 2023 Jun;98(6):951-964. Epub 2023 Mar 30 doi: 10.1002/ajh.26915. PMID: 36938794
Stauder R, Valent P, Theurl I
Blood 2018 Feb 1;131(5):505-514. Epub 2017 Nov 15 doi: 10.1182/blood-2017-07-746446. PMID: 29141943

Recent clinical studies

Etiology

Younes IE, Syler L, Hamed A
Leuk Res 2023 Jul;130:107307. Epub 2023 May 5 doi: 10.1016/j.leukres.2023.107307. PMID: 37186988
Hasserjian RP, Orazi A, Orfao A, Rozman M, Wang SA
Virchows Arch 2023 Jan;482(1):39-51. doi: 10.1007/s00428-022-03417-1. PMID: 36287260
Vobugari N, Heuston C, Lai C
Clin Adv Hematol Oncol 2022 Jun;20(6):375-383. PMID: 35731608
Malcovati L, Stevenson K, Papaemmanuil E, Neuberg D, Bejar R, Boultwood J, Bowen DT, Campbell PJ, Ebert BL, Fenaux P, Haferlach T, Heuser M, Jansen JH, Komrokji RS, Maciejewski JP, Walter MJ, Fontenay M, Garcia-Manero G, Graubert TA, Karsan A, Meggendorfer M, Pellagatti A, Sallman DA, Savona MR, Sekeres MA, Steensma DP, Tauro S, Thol F, Vyas P, Van de Loosdrecht AA, Haase D, Tüchler H, Greenberg PL, Ogawa S, Hellstrom-Lindberg E, Cazzola M
Blood 2020 Jul 9;136(2):157-170. doi: 10.1182/blood.2020004850. PMID: 32347921Free 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

Diagnosis

Loghavi S, Kanagal-Shamanna R, Khoury JD, Medeiros LJ, Naresh KN, Nejati R, Patnaik MM; WHO 5th Edition Classification Project
Mod Pathol 2024 Feb;37(2):100397. Epub 2023 Dec 1 doi: 10.1016/j.modpat.2023.100397. PMID: 38043791
Hasserjian RP, Orazi A, Orfao A, Rozman M, Wang SA
Virchows Arch 2023 Jan;482(1):39-51. doi: 10.1007/s00428-022-03417-1. PMID: 36287260
Malcovati L, Stevenson K, Papaemmanuil E, Neuberg D, Bejar R, Boultwood J, Bowen DT, Campbell PJ, Ebert BL, Fenaux P, Haferlach T, Heuser M, Jansen JH, Komrokji RS, Maciejewski JP, Walter MJ, Fontenay M, Garcia-Manero G, Graubert TA, Karsan A, Meggendorfer M, Pellagatti A, Sallman DA, Savona MR, Sekeres MA, Steensma DP, Tauro S, Thol F, Vyas P, Van de Loosdrecht AA, Haase D, Tüchler H, Greenberg PL, Ogawa S, Hellstrom-Lindberg E, Cazzola M
Blood 2020 Jul 9;136(2):157-170. doi: 10.1182/blood.2020004850. PMID: 32347921Free 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
Stauder R, Valent P, Theurl I
Blood 2018 Feb 1;131(5):505-514. Epub 2017 Nov 15 doi: 10.1182/blood-2017-07-746446. PMID: 29141943

Therapy

Li M, Baranwal A, Gurney M, Shah SN, Al-Kali A, Alkhateeb H, Foran J, Arana Yi C, Ongie L, Chen D, Mangaonkar A, McCullough K, Tefferi A, Lasho T, Finke C, Patnaik MM, Shah MV
Blood Adv 2024 Jun 25;8(12):3130-3139. doi: 10.1182/bloodadvances.2023012357. PMID: 38564774Free PMC Article
Leonard P, Louw A, Prentice D, Cirillo M
BMJ Case Rep 2022 Mar 29;15(3) doi: 10.1136/bcr-2021-247154. PMID: 35351745Free PMC Article
Fujioka M, Itonaga H, Kato T, Nannya Y, Hashimoto M, Kasai S, Toriyama E, Kamijo R, Taguchi M, Taniguchi H, Sato S, Atogami S, Imaizumi Y, Hata T, Moriuchi Y, Ogawa S, Miyazaki Y
Int J Hematol 2020 Feb;111(2):311-316. Epub 2019 Sep 12 doi: 10.1007/s12185-019-02731-w. PMID: 31515708
Zheng G, Chen P, Pallavajjalla A, Haley L, Gondek L, Dezern A, Ling H, De Marchi F, Lin MT, Gocke C
Am J Hematol 2019 Oct;94(10):1141-1148. Epub 2019 Aug 7 doi: 10.1002/ajh.25592. PMID: 31350794Free 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

Vobugari N, Heuston C, Lai C
Clin Adv Hematol Oncol 2022 Jun;20(6):375-383. PMID: 35731608
Nirmalanantham P, Sakhi R, Beck R, Oduro K, Gadde R, Ryder C, Yoest J, Sadri N, Meyerson HJ
Am J Clin Pathol 2022 Feb 3;157(2):219-230. doi: 10.1093/ajcp/aqab116. PMID: 34542558
Malcovati L, Stevenson K, Papaemmanuil E, Neuberg D, Bejar R, Boultwood J, Bowen DT, Campbell PJ, Ebert BL, Fenaux P, Haferlach T, Heuser M, Jansen JH, Komrokji RS, Maciejewski JP, Walter MJ, Fontenay M, Garcia-Manero G, Graubert TA, Karsan A, Meggendorfer M, Pellagatti A, Sallman DA, Savona MR, Sekeres MA, Steensma DP, Tauro S, Thol F, Vyas P, Van de Loosdrecht AA, Haase D, Tüchler H, Greenberg PL, Ogawa S, Hellstrom-Lindberg E, Cazzola M
Blood 2020 Jul 9;136(2):157-170. doi: 10.1182/blood.2020004850. PMID: 32347921Free 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
Jain M, Tripathi A
Expert Rev Hematol 2017 Oct;10(10):915-920. Epub 2017 Sep 1 doi: 10.1080/17474086.2017.1371588. PMID: 28832236

Clinical prediction guides

Vobugari N, Heuston C, Lai C
Clin Adv Hematol Oncol 2022 Jun;20(6):375-383. PMID: 35731608
Nirmalanantham P, Sakhi R, Beck R, Oduro K, Gadde R, Ryder C, Yoest J, Sadri N, Meyerson HJ
Am J Clin Pathol 2022 Feb 3;157(2):219-230. doi: 10.1093/ajcp/aqab116. PMID: 34542558
Osman A, Patel JL
Clin Chem 2021 Aug 5;67(8):1062-1070. doi: 10.1093/clinchem/hvab105. PMID: 34263288
Gallì A, Todisco G, Catamo E, Sala C, Elena C, Pozzi S, Bono E, Ferretti VV, Rizzo E, Molteni E, Zibellini S, Sarchi M, Boveri E, Ferrari J, Fiorelli N, Camaschella C, Gasparini P, Toniolo D, Cazzola M, Malcovati L
Blood 2021 Sep 16;138(11):965-976. doi: 10.1182/blood.2021011323. PMID: 34255818
Jain M, Tripathi A
Expert Rev Hematol 2017 Oct;10(10):915-920. Epub 2017 Sep 1 doi: 10.1080/17474086.2017.1371588. PMID: 28832236

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