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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

Real-World Safety of Niraparib for Maintenance Treatment of Ovarian Cancer in Canada.
Guan Q, Aktar SJ, Pataky RE, Stephen MM, Marques M, Gambaro K, Rachedi K, Forster K, Strub S, Stock D, de Léséleuc L, Cheung WY, Peacock S, Farrer C, Gavura S, Tadrous M, Grant RC, Chan KKW
Curr Oncol 2024 Jun 19;31(6):3591-3602. doi: 10.3390/curroncol31060264. PMID: 38920747Free PMC Article
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
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

Impact of Baseline Thrombocytopenia on Early Outcomes in Patients With Acute Venous Thromboembolism.
Lecumberri R, Ruiz-Artacho P, Trujillo-Santos J, Marcos-Jubilar M, Pérez-Pinar M, Quéré I, Claver G, Gorostidi J, Bikdeli B, Monreal M; RIETE Investigators
Am J Hematol 2025 Mar;100(3):375-382. Epub 2025 Jan 10 doi: 10.1002/ajh.27579. PMID: 39791523Free PMC Article
Thrombocytopenia 4 (THC4): Six novel families with mutations of the cytochrome c gene.
Marzollo A, Zampieri S, Barozzi S, Yousaf MA, Quartararo J, De Rocco D, Faleschini M, Marconi C, Ceccatelli Berti C, Bozzi V, Russo G, Giordano P, Goffrini P, Bresolin S, Pastore A, Savoia A, Pecci A
Br J Haematol 2024 Jul;205(1):306-315. Epub 2024 May 30 doi: 10.1111/bjh.19567. PMID: 38815995
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
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

Diagnosis

Impact of Baseline Thrombocytopenia on Early Outcomes in Patients With Acute Venous Thromboembolism.
Lecumberri R, Ruiz-Artacho P, Trujillo-Santos J, Marcos-Jubilar M, Pérez-Pinar M, Quéré I, Claver G, Gorostidi J, Bikdeli B, Monreal M; RIETE Investigators
Am J Hematol 2025 Mar;100(3):375-382. Epub 2025 Jan 10 doi: 10.1002/ajh.27579. PMID: 39791523Free PMC Article
A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study.
Štika J, Pešová M, Kozubík KS, Skalníková M, Dostálová L, Loja T, Radová L, Palušová V, Réblová K, Vrzalová Z, Blaháková I, Trizuljak J, Uldrijan S, Blatný J, Šmída M, Pospíšilová Š, Doubek M
Br J Haematol 2024 Dec;205(6):2450-2458. Epub 2024 Aug 27 doi: 10.1111/bjh.19694. PMID: 39191490Free 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

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
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
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
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

Prognosis

Impact of Baseline Thrombocytopenia on Early Outcomes in Patients With Acute Venous Thromboembolism.
Lecumberri R, Ruiz-Artacho P, Trujillo-Santos J, Marcos-Jubilar M, Pérez-Pinar M, Quéré I, Claver G, Gorostidi J, Bikdeli B, Monreal M; RIETE Investigators
Am J Hematol 2025 Mar;100(3):375-382. Epub 2025 Jan 10 doi: 10.1002/ajh.27579. PMID: 39791523Free PMC Article
A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study.
Štika J, Pešová M, Kozubík KS, Skalníková M, Dostálová L, Loja T, Radová L, Palušová V, Réblová K, Vrzalová Z, Blaháková I, Trizuljak J, Uldrijan S, Blatný J, Šmída M, Pospíšilová Š, Doubek M
Br J Haematol 2024 Dec;205(6):2450-2458. Epub 2024 Aug 27 doi: 10.1111/bjh.19694. PMID: 39191490Free PMC Article
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
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

A first-in-human phase 1/2 dose-escalation study of MAK683 (EED inhibitor) in patients with advanced malignancies.
Ribrag V, Iglesias L, De Braud F, Ma B, Yokota T, Zander T, Spreafico A, Subbiah V, Illert AL, Tan D, Santoro A, Munster PN, Suehiro Y, Wang Y, Ji DM, Chen S, Beltz K, Suenaga N, Ramkumar T, Luo F, Lai C, Wainberg ZA
Eur J Cancer 2025 Feb 5;216:115122. Epub 2024 Nov 16 doi: 10.1016/j.ejca.2024.115122. PMID: 39793445
A novel thrombocytopenia-4-causing CYCS gene variant decreases caspase activity: Three-generation study.
Štika J, Pešová M, Kozubík KS, Skalníková M, Dostálová L, Loja T, Radová L, Palušová V, Réblová K, Vrzalová Z, Blaháková I, Trizuljak J, Uldrijan S, Blatný J, Šmída M, Pospíšilová Š, Doubek M
Br J Haematol 2024 Dec;205(6):2450-2458. Epub 2024 Aug 27 doi: 10.1111/bjh.19694. PMID: 39191490Free PMC Article
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
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
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

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