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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

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
Real-world adverse events associated with CAR T-cell therapy among adults age ≥ 65 years.
Zettler ME, Feinberg BA, Phillips EG Jr, Klink AJ, Mehta S, Gajra A
J Geriatr Oncol 2021 Mar;12(2):239-242. Epub 2020 Aug 11 doi: 10.1016/j.jgo.2020.07.006. PMID: 32798213
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

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
Low-affinity immunoglobulin gamma Fc region receptor III-B (FcγRIIIB, CD16B) deficiency in patients with blood and immune system disorders.
Minguela A, Salido EJ, Soto-Ramírez MF, Olga MA, Leal JD, García-Garay MC, Periago A, Berenguer M, Blanque M, Campillo JA
Br J Haematol 2021 Dec;195(5):743-747. Epub 2021 Sep 20 doi: 10.1111/bjh.17828. PMID: 34544201
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
Non-transient "self-sustaining" heparin-induced thrombocytopenia: 4-year persistence of a platelet-activating PF4/heparin-antibody status without heparin exposure.
Birschmann I, Gummert J, Schirmer U, Knabbe C, Sachs UJ, Koster A
Platelets 2014;25(8):634-5. Epub 2013 Nov 18 doi: 10.3109/09537104.2013.849803. PMID: 24246163

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
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
Severe Plasmodium vivax malaria among sudanese children at New Halfa Hospital, Eastern Sudan.
Mahgoub H, Gasim GI, Musa IR, Adam I
Parasit Vectors 2012 Jul 30;5:154. doi: 10.1186/1756-3305-5-154. PMID: 22846165Free PMC Article
Cytomegalovirus-associated immune thrombocytopenic purpura after liver transplantation.
Wei SH, Ho MC, Ni YH, Lin DT, Lee PH
J Formos Med Assoc 2007 Apr;106(4):327-9. doi: 10.1016/S0929-6646(09)60261-8. PMID: 17475612

Prognosis

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
Low-affinity immunoglobulin gamma Fc region receptor III-B (FcγRIIIB, CD16B) deficiency in patients with blood and immune system disorders.
Minguela A, Salido EJ, Soto-Ramírez MF, Olga MA, Leal JD, García-Garay MC, Periago A, Berenguer M, Blanque M, Campillo JA
Br J Haematol 2021 Dec;195(5):743-747. Epub 2021 Sep 20 doi: 10.1111/bjh.17828. PMID: 34544201
Cytomegalovirus-associated immune thrombocytopenic purpura after liver transplantation.
Wei SH, Ho MC, Ni YH, Lin DT, Lee PH
J Formos Med Assoc 2007 Apr;106(4):327-9. doi: 10.1016/S0929-6646(09)60261-8. PMID: 17475612

Clinical prediction guides

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
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
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

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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