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Thrombocytopenia 4(THC4)

MedGen UID:
394329
•Concept ID:
C2677608
•
Disease or Syndrome
Synonyms: THC4; THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 4
 
Gene (location): CYCS (7p15.3)
 
Monarch Initiative: MONDO:0012775
OMIM®: 612004

Definition

Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene. [from MONDO]

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 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

Professional guidelines

PubMed

Management of cancer-associated thromboembolism in vulnerable population.
Laporte S, Benhamou Y, Bertoletti L, Frère C, Hanon O, Couturaud F, Moustafa F, Mismetti P, Sanchez O, Mahé I; INNOVTE CAT Working Group
Arch Cardiovasc Dis 2024 Jan;117(1):45-59. Epub 2023 Nov 23 doi: 10.1016/j.acvd.2023.11.009. PMID: 38065754
Doublet Versus Single Agent as Second-Line Treatment for Advanced Gastric Cancer: A Meta-Analysis of 10 Randomized Controlled Trials.
Zhang Y, Ma B, Huang XT, Li YS, Wang Y, Liu ZL
Medicine (Baltimore) 2016 Feb;95(8):e2792. doi: 10.1097/MD.0000000000002792. PMID: 26937908Free PMC Article
Chemotherapy for relapsed small cell lung cancer: a systematic review and practice guideline.
Cheng S, Evans WK, Stys-Norman D, Shepherd FA; Lung Cancer Disease Site Group of Cancer Care Ontario's Program in Evidence-based Care
J Thorac Oncol 2007 Apr;2(4):348-54. doi: 10.1097/01.JTO.0000263720.15062.51. PMID: 17409809

Recent clinical studies

Etiology

Safety of Subcutaneous Daratumumab in Anti-CD38 Monoclonal Antibody-Naïve Patients with Plasma Cell Disorders: A Multicenter Real-Life Experience.
De Novellis D, Fontana R, Palmieri S, Della Pepa R, Di Perna M, Cetani G, Esposito D, Amendola A, Delle Cave G, Serio B, Morini D, Rizzo M, Mettivier L, Trastulli F, Rocco S, Pagano A, Barbato S, Leone A, La Magna M, Bianco R, Rascato G, Carobene A, Cuffa B, Iannalfo M, Giudice V, Svanera G, Annunziata M, Pizzuti M, Frigeri F, Califano C, Ferrara F, Pane F, Selleri C
Target Oncol 2023 Nov;18(6):885-892. Epub 2023 Sep 25 doi: 10.1007/s11523-023-01001-4. PMID: 37747623Free PMC Article
Phase Ib Study of Navicixizumab Plus Paclitaxel in Patients With Platinum-Resistant Ovarian, Primary Peritoneal, or Fallopian Tube Cancer.
Fu S, Corr BR, Culm-Merdek K, Mockbee C, Youssoufian H, Stagg R, Naumann RW, Wenham RM, Rosengarten RD, Benjamin L, Hamilton EP, Moore KN
J Clin Oncol 2022 Aug 10;40(23):2568-2577. Epub 2022 Apr 19 doi: 10.1200/JCO.21.01801. PMID: 35439029Free PMC Article
Immune checkpoint inhibitor-related thrombocytopenia: incidence, risk factors and effect on survival.
Haddad TC, Zhao S, Li M, Patel SH, Johns A, Grogan M, Lopez G, Miah A, Wei L, Tinoco G, Riesenberg B, Li Z, Meara A, Bertino EM, Kendra K, Otterson G, Presley CJ, Owen DH
Cancer Immunol Immunother 2022 May;71(5):1157-1165. Epub 2021 Oct 7 doi: 10.1007/s00262-021-03068-2. PMID: 34618180Free PMC Article
The incidence of thrombocytopenia in adult patients receiving chemotherapy for solid tumors or hematologic malignancies.
Shaw JL, Nielson CM, Park JK, Marongiu A, Soff GA
Eur J Haematol 2021 May;106(5):662-672. Epub 2021 Feb 16 doi: 10.1111/ejh.13595. PMID: 33544940Free PMC Article
Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide.
Herrera A, Vajravelu ME, Givler S, Mitteer L, Avitabile CM, Lord K, De León DD
J Clin Endocrinol Metab 2018 Dec 1;103(12):4365-4372. doi: 10.1210/jc.2018-01613. PMID: 30247666Free PMC Article

Diagnosis

Safety of Subcutaneous Daratumumab in Anti-CD38 Monoclonal Antibody-Naïve Patients with Plasma Cell Disorders: A Multicenter Real-Life Experience.
De Novellis D, Fontana R, Palmieri S, Della Pepa R, Di Perna M, Cetani G, Esposito D, Amendola A, Delle Cave G, Serio B, Morini D, Rizzo M, Mettivier L, Trastulli F, Rocco S, Pagano A, Barbato S, Leone A, La Magna M, Bianco R, Rascato G, Carobene A, Cuffa B, Iannalfo M, Giudice V, Svanera G, Annunziata M, Pizzuti M, Frigeri F, Califano C, Ferrara F, Pane F, Selleri C
Target Oncol 2023 Nov;18(6):885-892. Epub 2023 Sep 25 doi: 10.1007/s11523-023-01001-4. PMID: 37747623Free PMC Article
Momelotinib long-term safety and survival in myelofibrosis: integrated analysis of phase 3 randomized controlled trials.
Verstovsek S, Mesa R, Gupta V, Lavie D, Dubruille V, Cambier N, Platzbecker U, Hus M, Xicoy B, Oh ST, Kiladjian JJ, Vannucchi AM, Gerds A, Egyed M, Mayer J, Sacha T, Kawashima J, Morris M, Huang M, Harrison C
Blood Adv 2023 Jul 25;7(14):3582-3591. doi: 10.1182/bloodadvances.2022009311. PMID: 37042865Free PMC Article
Phase Ib Study of Navicixizumab Plus Paclitaxel in Patients With Platinum-Resistant Ovarian, Primary Peritoneal, or Fallopian Tube Cancer.
Fu S, Corr BR, Culm-Merdek K, Mockbee C, Youssoufian H, Stagg R, Naumann RW, Wenham RM, Rosengarten RD, Benjamin L, Hamilton EP, Moore KN
J Clin Oncol 2022 Aug 10;40(23):2568-2577. Epub 2022 Apr 19 doi: 10.1200/JCO.21.01801. PMID: 35439029Free PMC Article
The incidence of thrombocytopenia in adult patients receiving chemotherapy for solid tumors or hematologic malignancies.
Shaw JL, Nielson CM, Park JK, Marongiu A, Soff GA
Eur J Haematol 2021 May;106(5):662-672. Epub 2021 Feb 16 doi: 10.1111/ejh.13595. PMID: 33544940Free PMC Article
Prevalence of Adverse Events in Children With Congenital Hyperinsulinism Treated With Diazoxide.
Herrera A, Vajravelu ME, Givler S, Mitteer L, Avitabile CM, Lord K, De León DD
J Clin Endocrinol Metab 2018 Dec 1;103(12):4365-4372. doi: 10.1210/jc.2018-01613. PMID: 30247666Free PMC Article

Therapy

Durvalumab plus pazopanib combination in patients with advanced soft tissue sarcomas: a phase II trial.
Cho HJ, Yun KH, Shin SJ, Lee YH, Kim SH, Baek W, Han YD, Kim SK, Ryu HJ, Lee J, Cho I, Go H, Ko J, Jung I, Jeon MK, Rha SY, Kim HS
Nat Commun 2024 Jan 23;15(1):685. doi: 10.1038/s41467-024-44875-2. PMID: 38263321Free PMC Article
Safety of Subcutaneous Daratumumab in Anti-CD38 Monoclonal Antibody-Naïve Patients with Plasma Cell Disorders: A Multicenter Real-Life Experience.
De Novellis D, Fontana R, Palmieri S, Della Pepa R, Di Perna M, Cetani G, Esposito D, Amendola A, Delle Cave G, Serio B, Morini D, Rizzo M, Mettivier L, Trastulli F, Rocco S, Pagano A, Barbato S, Leone A, La Magna M, Bianco R, Rascato G, Carobene A, Cuffa B, Iannalfo M, Giudice V, Svanera G, Annunziata M, Pizzuti M, Frigeri F, Califano C, Ferrara F, Pane F, Selleri C
Target Oncol 2023 Nov;18(6):885-892. Epub 2023 Sep 25 doi: 10.1007/s11523-023-01001-4. PMID: 37747623Free PMC Article
Chimeric antigen receptor T-cell immunotherapies adverse events reported to FAERS database: focus on cytopenias.
Gomez-Lumbreras A, Mercadal Vilchez S, Villa-Zapata L, Malone DC, Couriel DR
Leuk Lymphoma 2023 Dec;64(13):2071-2080. Epub 2023 Sep 14 doi: 10.1080/10428194.2023.2254430. PMID: 37708442
Momelotinib long-term safety and survival in myelofibrosis: integrated analysis of phase 3 randomized controlled trials.
Verstovsek S, Mesa R, Gupta V, Lavie D, Dubruille V, Cambier N, Platzbecker U, Hus M, Xicoy B, Oh ST, Kiladjian JJ, Vannucchi AM, Gerds A, Egyed M, Mayer J, Sacha T, Kawashima J, Morris M, Huang M, Harrison C
Blood Adv 2023 Jul 25;7(14):3582-3591. doi: 10.1182/bloodadvances.2022009311. PMID: 37042865Free PMC Article
Immune checkpoint inhibitor-related thrombocytopenia: incidence, risk factors and effect on survival.
Haddad TC, Zhao S, Li M, Patel SH, Johns A, Grogan M, Lopez G, Miah A, Wei L, Tinoco G, Riesenberg B, Li Z, Meara A, Bertino EM, Kendra K, Otterson G, Presley CJ, Owen DH
Cancer Immunol Immunother 2022 May;71(5):1157-1165. Epub 2021 Oct 7 doi: 10.1007/s00262-021-03068-2. PMID: 34618180Free PMC Article

Prognosis

Durvalumab plus pazopanib combination in patients with advanced soft tissue sarcomas: a phase II trial.
Cho HJ, Yun KH, Shin SJ, Lee YH, Kim SH, Baek W, Han YD, Kim SK, Ryu HJ, Lee J, Cho I, Go H, Ko J, Jung I, Jeon MK, Rha SY, Kim HS
Nat Commun 2024 Jan 23;15(1):685. doi: 10.1038/s41467-024-44875-2. PMID: 38263321Free PMC Article
Immune checkpoint inhibitor-related thrombocytopenia: incidence, risk factors and effect on survival.
Haddad TC, Zhao S, Li M, Patel SH, Johns A, Grogan M, Lopez G, Miah A, Wei L, Tinoco G, Riesenberg B, Li Z, Meara A, Bertino EM, Kendra K, Otterson G, Presley CJ, Owen DH
Cancer Immunol Immunother 2022 May;71(5):1157-1165. Epub 2021 Oct 7 doi: 10.1007/s00262-021-03068-2. PMID: 34618180Free PMC Article
The incidence of thrombocytopenia in adult patients receiving chemotherapy for solid tumors or hematologic malignancies.
Shaw JL, Nielson CM, Park JK, Marongiu A, Soff GA
Eur J Haematol 2021 May;106(5):662-672. Epub 2021 Feb 16 doi: 10.1111/ejh.13595. PMID: 33544940Free PMC Article
Adjuvant chemotherapy in average-risk adult medulloblastoma patients improves survival: a long term study.
Franceschi E, Minichillo S, Mura A, Tosoni A, Mascarin M, Tomasello C, Bartolini S, Brandes AA
BMC Cancer 2020 Aug 12;20(1):755. doi: 10.1186/s12885-020-07237-x. PMID: 32787805Free PMC Article
Daclatasvir and asunaprevir plus peginterferon alfa and ribavirin in HCV genotype 1 or 4 non-responders.
Jensen D, Sherman KE, Hézode C, Pol S, Zeuzem S, de Ledinghen V, Tran A, Elkhashab M, Younes ZH, Kugelmas M, Mauss S, Everson G, Luketic V, Vierling J, Serfaty L, Brunetto M, Heo J, Bernstein D, McPhee F, Hennicken D, Mendez P, Hughes E, Noviello S; HALLMARK-QUAD Study Team
J Hepatol 2015 Jul;63(1):30-7. Epub 2015 Feb 19 doi: 10.1016/j.jhep.2015.02.018. PMID: 25703086

Clinical prediction guides

Durvalumab plus pazopanib combination in patients with advanced soft tissue sarcomas: a phase II trial.
Cho HJ, Yun KH, Shin SJ, Lee YH, Kim SH, Baek W, Han YD, Kim SK, Ryu HJ, Lee J, Cho I, Go H, Ko J, Jung I, Jeon MK, Rha SY, Kim HS
Nat Commun 2024 Jan 23;15(1):685. doi: 10.1038/s41467-024-44875-2. PMID: 38263321Free PMC Article
Safety of Subcutaneous Daratumumab in Anti-CD38 Monoclonal Antibody-Naïve Patients with Plasma Cell Disorders: A Multicenter Real-Life Experience.
De Novellis D, Fontana R, Palmieri S, Della Pepa R, Di Perna M, Cetani G, Esposito D, Amendola A, Delle Cave G, Serio B, Morini D, Rizzo M, Mettivier L, Trastulli F, Rocco S, Pagano A, Barbato S, Leone A, La Magna M, Bianco R, Rascato G, Carobene A, Cuffa B, Iannalfo M, Giudice V, Svanera G, Annunziata M, Pizzuti M, Frigeri F, Califano C, Ferrara F, Pane F, Selleri C
Target Oncol 2023 Nov;18(6):885-892. Epub 2023 Sep 25 doi: 10.1007/s11523-023-01001-4. PMID: 37747623Free PMC Article
Chimeric antigen receptor T-cell immunotherapies adverse events reported to FAERS database: focus on cytopenias.
Gomez-Lumbreras A, Mercadal Vilchez S, Villa-Zapata L, Malone DC, Couriel DR
Leuk Lymphoma 2023 Dec;64(13):2071-2080. Epub 2023 Sep 14 doi: 10.1080/10428194.2023.2254430. PMID: 37708442
The incidence of thrombocytopenia in adult patients receiving chemotherapy for solid tumors or hematologic malignancies.
Shaw JL, Nielson CM, Park JK, Marongiu A, Soff GA
Eur J Haematol 2021 May;106(5):662-672. Epub 2021 Feb 16 doi: 10.1111/ejh.13595. PMID: 33544940Free PMC Article
Daclatasvir and asunaprevir plus peginterferon alfa and ribavirin in HCV genotype 1 or 4 non-responders.
Jensen D, Sherman KE, Hézode C, Pol S, Zeuzem S, de Ledinghen V, Tran A, Elkhashab M, Younes ZH, Kugelmas M, Mauss S, Everson G, Luketic V, Vierling J, Serfaty L, Brunetto M, Heo J, Bernstein D, McPhee F, Hennicken D, Mendez P, Hughes E, Noviello S; HALLMARK-QUAD Study Team
J Hepatol 2015 Jul;63(1):30-7. Epub 2015 Feb 19 doi: 10.1016/j.jhep.2015.02.018. PMID: 25703086

Recent systematic reviews

Effectiveness of brentuximab vedotin monotherapy in relapsed or refractory Hodgkin lymphoma: a systematic review and meta-analysis.
Plattel WJ, Bergamasco A, Trinchese F, Gavini F, Bent-Ennakhil N, Zomas A, Castillon G, Arredondo-Bisono T, Cristarella T, Moride Y, von Tresckow B
Leuk Lymphoma 2021 Dec;62(14):3320-3332. Epub 2021 Jul 29 doi: 10.1080/10428194.2021.1957865. PMID: 34323643
The benefits of modified FOLFIRINOX for advanced pancreatic cancer and its induced adverse events: a systematic review and meta-analysis.
Tong H, Fan Z, Liu B, Lu T
Sci Rep 2018 Jun 6;8(1):8666. doi: 10.1038/s41598-018-26811-9. PMID: 29875415Free PMC Article
Polyclonal and monoclonal antibodies for induction therapy in kidney transplant recipients.
Hill P, Cross NB, Barnett AN, Palmer SC, Webster AC
Cochrane Database Syst Rev 2017 Jan 11;1(1):CD004759. doi: 10.1002/14651858.CD004759.pub2. PMID: 28073178Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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      Related information in NCBI Gene
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      Related information in GTR
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      Clinical tests in GTR
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