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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.
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.

Professional guidelines

PubMed

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
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
Zanetta G, Fei F, Mangioni C
Semin Oncol 2000 Feb;27(1 Suppl 1):23-7. PMID: 10697040

Recent clinical studies

Etiology

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
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
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
Srisurapanont K, Prakalapakorn W, Sutamworarot C, Siriraksa T, Jinapeng M, Rattanathammethee T
Hematology 2021 Dec;26(1):26-30. doi: 10.1080/16078454.2020.1856512. PMID: 33357100
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

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
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
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
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
Kopecký J, Trojanová P, Kubeček O, Kopecký O
Jpn J Clin Oncol 2015 Apr;45(4):381-4. Epub 2015 Jan 12 doi: 10.1093/jjco/hyu222. PMID: 25583422

Therapy

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
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
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
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
Kopecký J, Trojanová P, Kubeček O, Kopecký O
Jpn J Clin Oncol 2015 Apr;45(4):381-4. Epub 2015 Jan 12 doi: 10.1093/jjco/hyu222. PMID: 25583422

Prognosis

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
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
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
Srisurapanont K, Prakalapakorn W, Sutamworarot C, Siriraksa T, Jinapeng M, Rattanathammethee T
Hematology 2021 Dec;26(1):26-30. doi: 10.1080/16078454.2020.1856512. PMID: 33357100
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

Clinical prediction guides

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
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
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
Endo Y, Kitago M, Aiura K, Shinoda M, Yagi H, Abe Y, Oshima G, Hori S, Nakano Y, Itano O, Fukada J, Masugi Y, Kitagawa Y
World J Surg Oncol 2019 Aug 16;17(1):145. doi: 10.1186/s12957-019-1687-4. PMID: 31420046Free PMC Article
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

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
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
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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