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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

How to classify risk based on clinical and molecular modeling: integrating molecular markers in the risk assessment of myelodysplastic syndrome.
Xian RR
Hematology Am Soc Hematol Educ Program 2023 Dec 8;2023(1):51-58. doi: 10.1182/hematology.2023000420. PMID: 38066895Free PMC Article
Clonal hematopoiesis of indeterminate potential and clonal cytopenias of undetermined significance: 2023 update on clinical associations and management recommendations.
Mangaonkar AA, Patnaik MM
Am J Hematol 2023 Jun;98(6):951-964. Epub 2023 Mar 30 doi: 10.1002/ajh.26915. PMID: 36938794
Anemia at older age: etiologies, clinical implications, and management.
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

Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z, Komrokji R, Al Ali N, Regelson A, Geyer S, Patel A, Saygin C, Zeidan AM, Bewersdorf JP, Mendez L, Kishtagari A, Zeidner JF, Coombs CC, Madanat YF, Chung S, Badar T, Foran J, Desai P, Tsai C, Griffiths EA, Al Malki MM, Amanam I, Lai C, Deeg HJ, Ades L, Arana Yi C, Osman AEG, Dinner S, Abaza Y, Taylor J, Chandhok N, Soong D, Brunner AM, Carraway HE, Singh A, Elena C, Ferrari J, Gallì A, Pozzi S, Padron E, Patnaik MM, Malcovati L, Savona MR, Al-Kali A
Blood 2024 Nov 7;144(19):2033-2044. doi: 10.1182/blood.2024024756. PMID: 38996210Free PMC Article
Predicting cytopenias, progression, and survival in patients with clonal cytopenia of undetermined significance: a prospective cohort study.
Cargo C, Bernard E, Beinortas T, Bolton KL, Glover P, Warren H, Payne D, Ali R, Khan A, Short M, Van Hoppe S, Smith A, Taylor J, Evans P, Papaemmanuil E, Crouch S
Lancet Haematol 2024 Jan;11(1):e51-e61. doi: 10.1016/S2352-3026(23)00340-X. PMID: 38135373
The International Consensus Classification of myelodysplastic syndromes and related entities.
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
SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS.
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
MDS overlap disorders and diagnostic boundaries.
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

Fifth Edition of the World Health Classification of Tumors of the Hematopoietic and Lymphoid Tissue: Myeloid Neoplasms.
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
The International Consensus Classification of myelodysplastic syndromes and related entities.
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
Premalignant Clonal Hematopoietic Proliferations.
Nardi V, Kuo FC, Hasserjian RP
Am J Clin Pathol 2019 Aug 1;152(3):347-358. doi: 10.1093/ajcp/aqz079. PMID: 31305863
MDS overlap disorders and diagnostic boundaries.
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
Anemia at older age: etiologies, clinical implications, and management.
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

Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z, Komrokji R, Al Ali N, Regelson A, Geyer S, Patel A, Saygin C, Zeidan AM, Bewersdorf JP, Mendez L, Kishtagari A, Zeidner JF, Coombs CC, Madanat YF, Chung S, Badar T, Foran J, Desai P, Tsai C, Griffiths EA, Al Malki MM, Amanam I, Lai C, Deeg HJ, Ades L, Arana Yi C, Osman AEG, Dinner S, Abaza Y, Taylor J, Chandhok N, Soong D, Brunner AM, Carraway HE, Singh A, Elena C, Ferrari J, Gallì A, Pozzi S, Padron E, Patnaik MM, Malcovati L, Savona MR, Al-Kali A
Blood 2024 Nov 7;144(19):2033-2044. doi: 10.1182/blood.2024024756. PMID: 38996210Free PMC Article
The impact of cytotoxic therapy on the risk of progression and death in clonal cytopenia(s) of undetermined significance.
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
Clonal cytopenia of undetermined significance and atypical Behçet's: the importance of zinc.
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
The diagnostic utility of targeted gene panel sequencing in discriminating etiologies of cytopenia.
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
MDS overlap disorders and diagnostic boundaries.
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

Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z, Komrokji R, Al Ali N, Regelson A, Geyer S, Patel A, Saygin C, Zeidan AM, Bewersdorf JP, Mendez L, Kishtagari A, Zeidner JF, Coombs CC, Madanat YF, Chung S, Badar T, Foran J, Desai P, Tsai C, Griffiths EA, Al Malki MM, Amanam I, Lai C, Deeg HJ, Ades L, Arana Yi C, Osman AEG, Dinner S, Abaza Y, Taylor J, Chandhok N, Soong D, Brunner AM, Carraway HE, Singh A, Elena C, Ferrari J, Gallì A, Pozzi S, Padron E, Patnaik MM, Malcovati L, Savona MR, Al-Kali A
Blood 2024 Nov 7;144(19):2033-2044. doi: 10.1182/blood.2024024756. PMID: 38996210Free PMC Article
Predicting cytopenias, progression, and survival in patients with clonal cytopenia of undetermined significance: a prospective cohort study.
Cargo C, Bernard E, Beinortas T, Bolton KL, Glover P, Warren H, Payne D, Ali R, Khan A, Short M, Van Hoppe S, Smith A, Taylor J, Evans P, Papaemmanuil E, Crouch S
Lancet Haematol 2024 Jan;11(1):e51-e61. doi: 10.1016/S2352-3026(23)00340-X. PMID: 38135373
SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS.
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
MDS overlap disorders and diagnostic boundaries.
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
ICUS/CCUS/CHIP: basics & beyond.
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

Risk prediction for clonal cytopenia: multicenter real-world evidence.
Xie Z, Komrokji R, Al Ali N, Regelson A, Geyer S, Patel A, Saygin C, Zeidan AM, Bewersdorf JP, Mendez L, Kishtagari A, Zeidner JF, Coombs CC, Madanat YF, Chung S, Badar T, Foran J, Desai P, Tsai C, Griffiths EA, Al Malki MM, Amanam I, Lai C, Deeg HJ, Ades L, Arana Yi C, Osman AEG, Dinner S, Abaza Y, Taylor J, Chandhok N, Soong D, Brunner AM, Carraway HE, Singh A, Elena C, Ferrari J, Gallì A, Pozzi S, Padron E, Patnaik MM, Malcovati L, Savona MR, Al-Kali A
Blood 2024 Nov 7;144(19):2033-2044. doi: 10.1182/blood.2024024756. PMID: 38996210Free PMC Article
Predicting cytopenias, progression, and survival in patients with clonal cytopenia of undetermined significance: a prospective cohort study.
Cargo C, Bernard E, Beinortas T, Bolton KL, Glover P, Warren H, Payne D, Ali R, Khan A, Short M, Van Hoppe S, Smith A, Taylor J, Evans P, Papaemmanuil E, Crouch S
Lancet Haematol 2024 Jan;11(1):e51-e61. doi: 10.1016/S2352-3026(23)00340-X. PMID: 38135373
Diagnostic Challenge and Clinical Dilemma: The Long Reach of Clonal Hematopoiesis.
Osman A, Patel JL
Clin Chem 2021 Aug 5;67(8):1062-1070. doi: 10.1093/clinchem/hvab105. PMID: 34263288
Relationship between clone metrics and clinical outcome in clonal cytopenia.
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
ICUS/CCUS/CHIP: basics & beyond.
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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