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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

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
The value of next-generation sequencing in routine diagnostics and management of patients with cytopenia.
Breinholt MF, Nielsen K, Schejbel L, Fassi DE, Schöllkopf C, Novotny GW, Mortensen BK, Ahmad A, Høgdall E, Nørgaard P
Int J Lab Hematol 2022 Jun;44(3):531-537. Epub 2022 Feb 10 doi: 10.1111/ijlh.13802. PMID: 35142436
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

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
Clonal cytopenias of undetermined significance: potential predictor of myeloid malignancies?
Vobugari N, Heuston C, Lai C
Clin Adv Hematol Oncol 2022 Jun;20(6):375-383. PMID: 35731608
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
How I investigate Clonal cytogenetic abnormalities of undetermined significance.
Tang G, Medeiros LJ, Wang SA
Int J Lab Hematol 2018 Aug;40(4):385-391. Epub 2018 Apr 6 doi: 10.1111/ijlh.12826. PMID: 29624895

Diagnosis

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
Comparison of the revised 4th (2016) and 5th (2022) editions of the World Health Organization classification of myelodysplastic neoplasms.
Zhang Y, Wu J, Qin T, Xu Z, Qu S, Pan L, Li B, Wang H, Zhang P, Yan X, Gong J, Gao Q, Gale RP, Xiao Z
Leukemia 2022 Dec;36(12):2875-2882. Epub 2022 Oct 12 doi: 10.1038/s41375-022-01718-7. PMID: 36224330Free PMC Article
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
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

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
Persistent clonal cytogenetic abnormality with del(20q) from an initial diagnosis of acute promyelocytic leukemia.
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
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

Clonal cytopenias of undetermined significance: potential predictor of myeloid malignancies?
Vobugari N, Heuston C, Lai C
Clin Adv Hematol Oncol 2022 Jun;20(6):375-383. PMID: 35731608
Flow Cytometric Findings in Clonal Cytopenia of Undetermined Significance.
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
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
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

Clinical prediction guides

Clonal cytopenias of undetermined significance: potential predictor of myeloid malignancies?
Vobugari N, Heuston C, Lai C
Clin Adv Hematol Oncol 2022 Jun;20(6):375-383. PMID: 35731608
Flow Cytometric Findings in Clonal Cytopenia of Undetermined Significance.
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
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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