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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

Cytogenetics in the management of clonal chromosomal abnormalities of undetermined significance and persistent polyclonal B-cell lymphocytosis: Guidelines from the Groupe Francophone de Cytogénétique Hématologique (GFCH).
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
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

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 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

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
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

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
Clonal Hematopoiesis in Patients With Neuroendocrine Tumor Treated With Lutetium-177 and the Risk of Thrombocytopenia: A Prospective Study.
Kusne Y, Lasho T, Finke C, Elsabbagh Z, McCue S, Hobday T, Starr J, Bekaii-Saab T, Halfdanarson TR, Patnaik MM, Ou FS, Sonbol MB
JCO Precis Oncol 2024 Jun;8:e2400143. doi: 10.1200/PO.24.00143. PMID: 38976813Free 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
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
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
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

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
Cost-Effective and Scalable Clonal Hematopoiesis Assay Provides Insight into Clonal Dynamics.
Mack T, Vlasschaert C, von Beck K, Silver AJ, Heimlich JB, Poisner H, Condon HR, Ulloa J, Sochacki AL, Spaulding TP, Kishtagari A, Bejan CA, Xu Y, Savona MR, Jones A, Bick AG
J Mol Diagn 2024 Jul;26(7):563-573. Epub 2024 Apr 6 doi: 10.1016/j.jmoldx.2024.03.007. PMID: 38588769Free PMC Article
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
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
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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