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Thrombocytopenia 2(THC2)

MedGen UID:
349976
•Concept ID:
C1861185
•
Disease or Syndrome
Synonyms: THC2; Thrombocytopenia autosomal dominant 2
 
Gene (location): ANKRD26 (10p12.1)
 
Monarch Initiative: MONDO:0008555
OMIM®: 188000

Disease characteristics

Excerpted from the GeneReview: ANKRD26-Related Thrombocytopenia
ANKRD26-related thrombocytopenia is characterized by lifelong mild-to-moderate thrombocytopenia with a normal platelet size and no syndromic associations. Most individuals have normal hemostasis or a mild bleeding phenotype and do not develop severe spontaneous bleeding. Some individuals may have concomitant erythrocytosis and leukocytosis. The risk for myeloid malignancies (including myelodysplastic syndrome, acute myelogenous leukemia, and chronic myelogenous leukemia) is increased in individuals with ANKRD26 pathogenic variants. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Juliana Perez Botero  |  Stefanie N Dugan  |  Matthew W Anderson   view full author information

Additional description

From OMIM
Thrombocytopenia-2 (THC2) is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by Pippucci et al., 2011). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.  http://www.omim.org/entry/188000

Clinical features

From HPO
Thrombocytopenia
MedGen UID:
52737
•Concept ID:
C0040034
•
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
See: Feature record | Search on this feature
Abnormal platelet shape
MedGen UID:
868472
•Concept ID:
C4022866
•
Anatomical Abnormality
A deviation from the normal discoid platelet shape.
See: Feature record | Search on this feature
Abnormal platelet volume
MedGen UID:
868747
•Concept ID:
C4023152
•
Anatomical Abnormality
Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.
See: Feature record | Search on this feature
Increased megakaryocyte colony forming unit count
MedGen UID:
1814116
•Concept ID:
C5558381
•
Finding
Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.
See: Feature record | Search on this feature
Leukocytosis
MedGen UID:
9736
•Concept ID:
C0023518
•
Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
See: Feature record | Search on this feature
Bruising susceptibility
MedGen UID:
140849
•Concept ID:
C0423798
•
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThrombocytopenia 2

Professional guidelines

PubMed

Safety and Survival Outcomes of (177)Lu-Prostate-Specific Membrane Antigen Therapy in Patients with Metastatic Castration-Resistant Prostate Cancer with Prior (223)Ra treatment: The RALU Study.
Rahbar K, Essler M, Pabst KM, Eiber M, Fougère C, Prasad V, Rassek P, Hasa E, Dittmann H, Bundschuh RA, Fendler WP, Kurtinecz M, Schmall A, Verholen F, Sartor O
J Nucl Med 2023 Apr;64(4):574-578. Epub 2022 Oct 27 doi: 10.2967/jnumed.122.264456. PMID: 36302656Free PMC Article
Evaluation of risk factors associated with carboplatin and nab-paclitaxel treatment suspension in patients with non-small cell lung cancer.
Saito Y, Takekuma Y, Shinagawa N, Sugawara M
Support Care Cancer 2022 May;30(5):4081-4088. Epub 2022 Jan 23 doi: 10.1007/s00520-021-06757-x. PMID: 35066667
An analysis of outcomes and treatment costs for children undergoing splenectomy for chronic immune thrombocytopenia purpura.
Gwilliam NR, Lazar DA, Brandt ML, Mahoney DH Jr, Wesson DE, Mazziotti MV, Nuchtern JG, Lee TC
J Pediatr Surg 2012 Aug;47(8):1537-41. doi: 10.1016/j.jpedsurg.2012.02.013. PMID: 22901913

Recent clinical studies

Etiology

Safety and Survival Outcomes of (177)Lu-Prostate-Specific Membrane Antigen Therapy in Patients with Metastatic Castration-Resistant Prostate Cancer with Prior (223)Ra treatment: The RALU Study.
Rahbar K, Essler M, Pabst KM, Eiber M, Fougère C, Prasad V, Rassek P, Hasa E, Dittmann H, Bundschuh RA, Fendler WP, Kurtinecz M, Schmall A, Verholen F, Sartor O
J Nucl Med 2023 Apr;64(4):574-578. Epub 2022 Oct 27 doi: 10.2967/jnumed.122.264456. PMID: 36302656Free PMC Article
Characteristics and Outcomes of Patients With Cerebral Venous Sinus Thrombosis in SARS-CoV-2 Vaccine-Induced Immune Thrombotic Thrombocytopenia.
Sánchez van Kammen M, Aguiar de Sousa D, Poli S, Cordonnier C, Heldner MR, van de Munckhof A, Krzywicka K, van Haaps T, Ciccone A, Middeldorp S, Levi MM, Kremer Hovinga JA, Silvis S, Hiltunen S, Mansour M, Arauz A, Barboza MA, Field TS, Tsivgoulis G, Nagel S, Lindgren E, Tatlisumak T, Jood K, Putaala J, Ferro JM, Arnold M, Coutinho JM; Cerebral Venous Sinus Thrombosis With Thrombocytopenia Syndrome Study Group, Sharma AR, Elkady A, Negro A, Günther A, Gutschalk A, Schönenberger S, Buture A, Murphy S, Paiva Nunes A, Tiede A, Puthuppallil Philip A, Mengel A, Medina A, Hellström Vogel Å, Tawa A, Aujayeb A, Casolla B, Buck B, Zanferrari C, Garcia-Esperon C, Vayne C, Legault C, Pfrepper C, Tracol C, Soriano C, Guisado-Alonso D, Bougon D, Zimatore DS, Michalski D, Blacquiere D, Johansson E, Cuadrado-Godia E, De Maistre E, Carrera E, Vuillier F, Bonneville F, Giammello F, Bode FJ, Zimmerman J, d'Onofrio F, Grillo F, Cotton F, Caparros F, Puy L, Maier F, Gulli G, Frisullo G, Polkinghorne G, Franchineau G, Cangür H, Katzberg H, Sibon I, Baharoglu I, Brar J, Payen JF, Burrow J, Fernandes J, Schouten J, Althaus K, Garambois K, Derex L, Humbertjean L, Lebrato Hernandez L, Kellermair L, Morin Martin M, Petruzzellis M, Cotelli M, Dubois MC, Carvalho M, Wittstock M, Miranda M, Skjelland M, Bandettini di Poggio M, Scholz MJ, Raposo N, Kahnis R, Kruyt N, Huet O, Sharma P, Candelaresi P, Reiner P, Vieira R, Acampora R, Kern R, Leker R, Coutts S, Bal S, Sharma SS, Susen S, Cox T, Geeraerts T, Gattringer T, Bartsch T, Kleinig TJ, Dizonno V, Arslan Y
JAMA Neurol 2021 Nov 1;78(11):1314-1323. doi: 10.1001/jamaneurol.2021.3619. PMID: 34581763Free PMC Article
Biomarkers and outcomes of COVID-19 hospitalisations: systematic review and meta-analysis.
Malik P, Patel U, Mehta D, Patel N, Kelkar R, Akrmah M, Gabrilove JL, Sacks H
BMJ Evid Based Med 2021 Jun;26(3):107-108. Epub 2020 Sep 15 doi: 10.1136/bmjebm-2020-111536. PMID: 32934000Free PMC Article
Palbociclib in Hormone-Receptor-Positive Advanced Breast Cancer.
Turner NC, Ro J, André F, Loi S, Verma S, Iwata H, Harbeck N, Loibl S, Huang Bartlett C, Zhang K, Giorgetti C, Randolph S, Koehler M, Cristofanilli M; PALOMA3 Study Group
N Engl J Med 2015 Jul 16;373(3):209-19. Epub 2015 Jun 1 doi: 10.1056/NEJMoa1505270. PMID: 26030518
Heparin-induced thrombocytopenia in critically ill patients.
Warkentin TE
Semin Thromb Hemost 2015 Feb;41(1):49-60. Epub 2015 Jan 15 doi: 10.1055/s-0034-1398381. PMID: 25590528

Diagnosis

Potential biomarkers for inherited thrombocytopenia 2 identified by plasma proteomics.
Wang X, Chen M, Dai L, Tan C, Hu L, Zhang Y, Xiao Y, Li F, Zeng C, Xiang Z, Wang Y, Zhang W, Zhang X, Ran Q, Li Z, Chen L
Platelets 2022 Apr 3;33(3):443-450. Epub 2021 Jun 8 doi: 10.1080/09537104.2021.1937594. PMID: 34101524
Characteristics and Outcomes of Patients With Cerebral Venous Sinus Thrombosis in SARS-CoV-2 Vaccine-Induced Immune Thrombotic Thrombocytopenia.
Sánchez van Kammen M, Aguiar de Sousa D, Poli S, Cordonnier C, Heldner MR, van de Munckhof A, Krzywicka K, van Haaps T, Ciccone A, Middeldorp S, Levi MM, Kremer Hovinga JA, Silvis S, Hiltunen S, Mansour M, Arauz A, Barboza MA, Field TS, Tsivgoulis G, Nagel S, Lindgren E, Tatlisumak T, Jood K, Putaala J, Ferro JM, Arnold M, Coutinho JM; Cerebral Venous Sinus Thrombosis With Thrombocytopenia Syndrome Study Group, Sharma AR, Elkady A, Negro A, Günther A, Gutschalk A, Schönenberger S, Buture A, Murphy S, Paiva Nunes A, Tiede A, Puthuppallil Philip A, Mengel A, Medina A, Hellström Vogel Å, Tawa A, Aujayeb A, Casolla B, Buck B, Zanferrari C, Garcia-Esperon C, Vayne C, Legault C, Pfrepper C, Tracol C, Soriano C, Guisado-Alonso D, Bougon D, Zimatore DS, Michalski D, Blacquiere D, Johansson E, Cuadrado-Godia E, De Maistre E, Carrera E, Vuillier F, Bonneville F, Giammello F, Bode FJ, Zimmerman J, d'Onofrio F, Grillo F, Cotton F, Caparros F, Puy L, Maier F, Gulli G, Frisullo G, Polkinghorne G, Franchineau G, Cangür H, Katzberg H, Sibon I, Baharoglu I, Brar J, Payen JF, Burrow J, Fernandes J, Schouten J, Althaus K, Garambois K, Derex L, Humbertjean L, Lebrato Hernandez L, Kellermair L, Morin Martin M, Petruzzellis M, Cotelli M, Dubois MC, Carvalho M, Wittstock M, Miranda M, Skjelland M, Bandettini di Poggio M, Scholz MJ, Raposo N, Kahnis R, Kruyt N, Huet O, Sharma P, Candelaresi P, Reiner P, Vieira R, Acampora R, Kern R, Leker R, Coutts S, Bal S, Sharma SS, Susen S, Cox T, Geeraerts T, Gattringer T, Bartsch T, Kleinig TJ, Dizonno V, Arslan Y
JAMA Neurol 2021 Nov 1;78(11):1314-1323. doi: 10.1001/jamaneurol.2021.3619. PMID: 34581763Free PMC Article
CDK4/6 Inhibitors and Arthralgia: A Single Institution Experience.
Andrikopoulou A, Fiste O, Apostolidou K, Skafida E, Markellos C, Liontos M, Kyriazoglou A, Dimopoulos MA, Zagouri F
Med Sci (Basel) 2021 Jun 5;9(2) doi: 10.3390/medsci9020042. PMID: 34198899Free PMC Article
Biomarkers and outcomes of COVID-19 hospitalisations: systematic review and meta-analysis.
Malik P, Patel U, Mehta D, Patel N, Kelkar R, Akrmah M, Gabrilove JL, Sacks H
BMJ Evid Based Med 2021 Jun;26(3):107-108. Epub 2020 Sep 15 doi: 10.1136/bmjebm-2020-111536. PMID: 32934000Free PMC Article
Drug-induced immune thrombocytopenia: incidence, clinical features, laboratory testing, and pathogenic mechanisms.
Curtis BR
Immunohematology 2014;30(2):55-65. PMID: 25247620

Therapy

Phase I Study of Entinostat, Atezolizumab, Carboplatin, and Etoposide in Previously Untreated Extensive-Stage Small Cell Lung Cancer, ETCTN 10399.
Gentzler RD, Villaruz LC, Rhee JC, Horton B, Mock J, Hanley M, Kim K, Rudek MA, Phelps MA, Carducci MA, Piekarz R, Park KS, Bullock TN, Rudin CM
Oncologist 2023 Nov 2;28(11):1007-e1107. doi: 10.1093/oncolo/oyad221. PMID: 37555284Free PMC Article
Safety and Survival Outcomes of (177)Lu-Prostate-Specific Membrane Antigen Therapy in Patients with Metastatic Castration-Resistant Prostate Cancer with Prior (223)Ra treatment: The RALU Study.
Rahbar K, Essler M, Pabst KM, Eiber M, Fougère C, Prasad V, Rassek P, Hasa E, Dittmann H, Bundschuh RA, Fendler WP, Kurtinecz M, Schmall A, Verholen F, Sartor O
J Nucl Med 2023 Apr;64(4):574-578. Epub 2022 Oct 27 doi: 10.2967/jnumed.122.264456. PMID: 36302656Free PMC Article
Biomarkers and outcomes of COVID-19 hospitalisations: systematic review and meta-analysis.
Malik P, Patel U, Mehta D, Patel N, Kelkar R, Akrmah M, Gabrilove JL, Sacks H
BMJ Evid Based Med 2021 Jun;26(3):107-108. Epub 2020 Sep 15 doi: 10.1136/bmjebm-2020-111536. PMID: 32934000Free PMC Article
Palbociclib in Hormone-Receptor-Positive Advanced Breast Cancer.
Turner NC, Ro J, André F, Loi S, Verma S, Iwata H, Harbeck N, Loibl S, Huang Bartlett C, Zhang K, Giorgetti C, Randolph S, Koehler M, Cristofanilli M; PALOMA3 Study Group
N Engl J Med 2015 Jul 16;373(3):209-19. Epub 2015 Jun 1 doi: 10.1056/NEJMoa1505270. PMID: 26030518
Heparin-induced thrombocytopenia in critically ill patients.
Warkentin TE
Semin Thromb Hemost 2015 Feb;41(1):49-60. Epub 2015 Jan 15 doi: 10.1055/s-0034-1398381. PMID: 25590528

Prognosis

Potential biomarkers for inherited thrombocytopenia 2 identified by plasma proteomics.
Wang X, Chen M, Dai L, Tan C, Hu L, Zhang Y, Xiao Y, Li F, Zeng C, Xiang Z, Wang Y, Zhang W, Zhang X, Ran Q, Li Z, Chen L
Platelets 2022 Apr 3;33(3):443-450. Epub 2021 Jun 8 doi: 10.1080/09537104.2021.1937594. PMID: 34101524
Characteristics and Outcomes of Patients With Cerebral Venous Sinus Thrombosis in SARS-CoV-2 Vaccine-Induced Immune Thrombotic Thrombocytopenia.
Sánchez van Kammen M, Aguiar de Sousa D, Poli S, Cordonnier C, Heldner MR, van de Munckhof A, Krzywicka K, van Haaps T, Ciccone A, Middeldorp S, Levi MM, Kremer Hovinga JA, Silvis S, Hiltunen S, Mansour M, Arauz A, Barboza MA, Field TS, Tsivgoulis G, Nagel S, Lindgren E, Tatlisumak T, Jood K, Putaala J, Ferro JM, Arnold M, Coutinho JM; Cerebral Venous Sinus Thrombosis With Thrombocytopenia Syndrome Study Group, Sharma AR, Elkady A, Negro A, Günther A, Gutschalk A, Schönenberger S, Buture A, Murphy S, Paiva Nunes A, Tiede A, Puthuppallil Philip A, Mengel A, Medina A, Hellström Vogel Å, Tawa A, Aujayeb A, Casolla B, Buck B, Zanferrari C, Garcia-Esperon C, Vayne C, Legault C, Pfrepper C, Tracol C, Soriano C, Guisado-Alonso D, Bougon D, Zimatore DS, Michalski D, Blacquiere D, Johansson E, Cuadrado-Godia E, De Maistre E, Carrera E, Vuillier F, Bonneville F, Giammello F, Bode FJ, Zimmerman J, d'Onofrio F, Grillo F, Cotton F, Caparros F, Puy L, Maier F, Gulli G, Frisullo G, Polkinghorne G, Franchineau G, Cangür H, Katzberg H, Sibon I, Baharoglu I, Brar J, Payen JF, Burrow J, Fernandes J, Schouten J, Althaus K, Garambois K, Derex L, Humbertjean L, Lebrato Hernandez L, Kellermair L, Morin Martin M, Petruzzellis M, Cotelli M, Dubois MC, Carvalho M, Wittstock M, Miranda M, Skjelland M, Bandettini di Poggio M, Scholz MJ, Raposo N, Kahnis R, Kruyt N, Huet O, Sharma P, Candelaresi P, Reiner P, Vieira R, Acampora R, Kern R, Leker R, Coutts S, Bal S, Sharma SS, Susen S, Cox T, Geeraerts T, Gattringer T, Bartsch T, Kleinig TJ, Dizonno V, Arslan Y
JAMA Neurol 2021 Nov 1;78(11):1314-1323. doi: 10.1001/jamaneurol.2021.3619. PMID: 34581763Free PMC Article
Biomarkers and outcomes of COVID-19 hospitalisations: systematic review and meta-analysis.
Malik P, Patel U, Mehta D, Patel N, Kelkar R, Akrmah M, Gabrilove JL, Sacks H
BMJ Evid Based Med 2021 Jun;26(3):107-108. Epub 2020 Sep 15 doi: 10.1136/bmjebm-2020-111536. PMID: 32934000Free PMC Article
Drug-induced immune thrombocytopenia: incidence, clinical features, laboratory testing, and pathogenic mechanisms.
Curtis BR
Immunohematology 2014;30(2):55-65. PMID: 25247620
Immune thrombocytopenia in pregnancy: autoimmune and alloimmune.
Bussel JB
J Reprod Immunol 1997 Dec 15;37(1):35-61. doi: 10.1016/s0165-0378(97)00072-7. PMID: 9501289

Clinical prediction guides

Potential biomarkers for inherited thrombocytopenia 2 identified by plasma proteomics.
Wang X, Chen M, Dai L, Tan C, Hu L, Zhang Y, Xiao Y, Li F, Zeng C, Xiang Z, Wang Y, Zhang W, Zhang X, Ran Q, Li Z, Chen L
Platelets 2022 Apr 3;33(3):443-450. Epub 2021 Jun 8 doi: 10.1080/09537104.2021.1937594. PMID: 34101524
Characteristics and Outcomes of Patients With Cerebral Venous Sinus Thrombosis in SARS-CoV-2 Vaccine-Induced Immune Thrombotic Thrombocytopenia.
Sánchez van Kammen M, Aguiar de Sousa D, Poli S, Cordonnier C, Heldner MR, van de Munckhof A, Krzywicka K, van Haaps T, Ciccone A, Middeldorp S, Levi MM, Kremer Hovinga JA, Silvis S, Hiltunen S, Mansour M, Arauz A, Barboza MA, Field TS, Tsivgoulis G, Nagel S, Lindgren E, Tatlisumak T, Jood K, Putaala J, Ferro JM, Arnold M, Coutinho JM; Cerebral Venous Sinus Thrombosis With Thrombocytopenia Syndrome Study Group, Sharma AR, Elkady A, Negro A, Günther A, Gutschalk A, Schönenberger S, Buture A, Murphy S, Paiva Nunes A, Tiede A, Puthuppallil Philip A, Mengel A, Medina A, Hellström Vogel Å, Tawa A, Aujayeb A, Casolla B, Buck B, Zanferrari C, Garcia-Esperon C, Vayne C, Legault C, Pfrepper C, Tracol C, Soriano C, Guisado-Alonso D, Bougon D, Zimatore DS, Michalski D, Blacquiere D, Johansson E, Cuadrado-Godia E, De Maistre E, Carrera E, Vuillier F, Bonneville F, Giammello F, Bode FJ, Zimmerman J, d'Onofrio F, Grillo F, Cotton F, Caparros F, Puy L, Maier F, Gulli G, Frisullo G, Polkinghorne G, Franchineau G, Cangür H, Katzberg H, Sibon I, Baharoglu I, Brar J, Payen JF, Burrow J, Fernandes J, Schouten J, Althaus K, Garambois K, Derex L, Humbertjean L, Lebrato Hernandez L, Kellermair L, Morin Martin M, Petruzzellis M, Cotelli M, Dubois MC, Carvalho M, Wittstock M, Miranda M, Skjelland M, Bandettini di Poggio M, Scholz MJ, Raposo N, Kahnis R, Kruyt N, Huet O, Sharma P, Candelaresi P, Reiner P, Vieira R, Acampora R, Kern R, Leker R, Coutts S, Bal S, Sharma SS, Susen S, Cox T, Geeraerts T, Gattringer T, Bartsch T, Kleinig TJ, Dizonno V, Arslan Y
JAMA Neurol 2021 Nov 1;78(11):1314-1323. doi: 10.1001/jamaneurol.2021.3619. PMID: 34581763Free PMC Article
Biomarkers and outcomes of COVID-19 hospitalisations: systematic review and meta-analysis.
Malik P, Patel U, Mehta D, Patel N, Kelkar R, Akrmah M, Gabrilove JL, Sacks H
BMJ Evid Based Med 2021 Jun;26(3):107-108. Epub 2020 Sep 15 doi: 10.1136/bmjebm-2020-111536. PMID: 32934000Free PMC Article
A comparative prospective observational study of children and adults with immune thrombocytopenia: 2-year follow-up.
Schifferli A, Holbro A, Chitlur M, Coslovsky M, Imbach P, Donato H, Elalfy M, Graciela E, Grainger J, Holzhauer S, Riccheri C, Rodeghiero F, Ruggeri M, Tamary H, Uglova T, Wu R, Kühne T; Intercontinental Cooperative ITP Study Group (ICIS)
Am J Hematol 2018 Jun;93(6):751-759. Epub 2018 Mar 30 doi: 10.1002/ajh.25086. PMID: 29516627
Immune thrombocytopenia in pregnancy: autoimmune and alloimmune.
Bussel JB
J Reprod Immunol 1997 Dec 15;37(1):35-61. doi: 10.1016/s0165-0378(97)00072-7. PMID: 9501289

Recent systematic reviews

Evaluate Short-Term Outcomes of abciximab in ST-Segment Elevation Myocardial Infarction Patients Undergoing Percutaneous Coronary Intervention: A Meta-Analysis of Randomized Clinical Trials.
Bai N, Niu Y, Ma Y, Shang YS, Zhong PY, Wang ZL
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Efficacy and safety of diazoxide for treating hyperinsulinemic hypoglycemia: A systematic review and meta-analysis.
Chen X, Feng L, Yao H, Yang L, Qin Y
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Biomarkers and outcomes of COVID-19 hospitalisations: systematic review and meta-analysis.
Malik P, Patel U, Mehta D, Patel N, Kelkar R, Akrmah M, Gabrilove JL, Sacks H
BMJ Evid Based Med 2021 Jun;26(3):107-108. Epub 2020 Sep 15 doi: 10.1136/bmjebm-2020-111536. PMID: 32934000Free PMC Article
Relative effectiveness and safety of chemotherapy in elderly and nonelderly patients with stage III colon cancer: a systematic review.
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