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Thrombocytopenia 7(THC7)

MedGen UID:
1768257
•Concept ID:
C5436874
•
Disease or Syndrome
Synonym: THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 7
 
Gene (location): IKZF5 (10q26.13)
 
Monarch Initiative: MONDO:0030867
OMIM®: 619130

Definition

Thrombocytopenia-7 (THC7) is an autosomal dominant disorder characterized by reduced peripheral platelet count. The expression and severity of the disorder is highly variable: some patients have no bleeding symptoms, whereas other have recurrent petechiae, epistaxis, or more severe bleeding episodes. A common finding is decreased alpha-granules in the platelets. There are variable findings on light and electron microscopic analysis: some patients have normal platelet morphology, whereas others show abnormal platelet morphology with cytoskeletal defects. Flow cytometric studies may show reduced expression of platelet membrane glycoproteins and activation markers (summary by Lentaigne et al., 2019 and Leinoe et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900. [from OMIM]

Clinical features

From HPO
Post-partum hemorrhage
MedGen UID:
18592
•Concept ID:
C0032797
•
Pathologic Function
Significant maternal hemorrhage/blood loss following deilvery of a child.
See: Feature record | Search on this feature
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
Impaired ristocetin-induced platelet aggregation
MedGen UID:
868749
•Concept ID:
C4023154
•
Pathologic Function
Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin.
See: Feature record | Search on this feature
Impaired arachidonic acid-induced platelet aggregation
MedGen UID:
868750
•Concept ID:
C4023155
•
Pathologic Function
Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid.
See: Feature record | Search on this feature
Impaired collagen-induced platelet aggregation
MedGen UID:
870264
•Concept ID:
C4024703
•
Finding
Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.
See: Feature record | Search on this feature
Impaired ADP-induced platelet aggregation
MedGen UID:
870824
•Concept ID:
C4025282
•
Finding
Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP.
See: Feature record | Search on this feature
Reduced platelet dense granules
MedGen UID:
1785275
•Concept ID:
C5539663
•
Finding
Decreased number of platelet dense granules, a type of platelet organelle.
See: Feature record | Search on this feature
Reduced platelet alpha granules
MedGen UID:
1789060
•Concept ID:
C5539664
•
Finding
A reduced number of platelet alpha granules.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis.
Even-Or E, Schiesel G, Simanovsky N, NaserEddin A, Zaidman I, Elpeleg O, Mor-Shaked H, Stepensky P
Bone 2022 Jan;154:116229. Epub 2021 Oct 8 doi: 10.1016/j.bone.2021.116229. PMID: 34624559
Outcomes after targeted treatment based on somatic tumor genetic testing for women with gynecologic cancers.
Somasegar S, Hoppenot C, Kuchta K, Sereika A, Khandekar J, Rodriguez G, Moore E, Hurteau J, Vogel TJ
Gynecol Oncol 2021 Nov;163(2):220-228. Epub 2021 Sep 9 doi: 10.1016/j.ygyno.2021.08.027. PMID: 34511240
Extrapleural pneumonectomy or supportive care: treatment of malignant pleural mesothelioma?
Sharif S, Zahid I, Routledge T, Scarci M
Interact Cardiovasc Thorac Surg 2011 Jun;12(6):1040-5. Epub 2011 Mar 8 doi: 10.1510/icvts.2010.256289. PMID: 21388982

Recent clinical studies

Etiology

Daratumumab, carfilzomib, lenalidomide, and dexamethasone with tandem transplant for high-risk newly diagnosed myeloma.
Touzeau C, Perrot A, Hulin C, Manier S, Macro M, Chretien ML, Karlin L, Escoffre M, Jacquet C, Tiab M, Leleu X, Avet-Loiseau H, Jobert A, Planche L, Corre J, Moreau P
Blood 2024 May 16;143(20):2029-2036. doi: 10.1182/blood.2023023597. PMID: 38394666
Oral Selinexor as Maintenance Therapy After First-Line Chemotherapy for Advanced or Recurrent Endometrial Cancer.
Vergote I, Pérez-Fidalgo JA, Hamilton EP, Valabrega G, Van Gorp T, Sehouli J, Cibula D, Levy T, Welch S, Richardson DL, Guerra EM, Scambia G, Henry S, Wimberger P, Miller DS, Klat J, Martínez-Garcia J, Raspagliesi F, Pothuri B, Romero I, Bergamini A, Slomovitz B, Schochter F, Høgdall E, Fariñas-Madrid L, Monk BJ, Michel D, Kauffman MG, Shacham S, Mirza MR, Makker V; ENGOT-EN5/GOG-3055/SIENDO Investigators
J Clin Oncol 2023 Dec 10;41(35):5400-5410. Epub 2023 Sep 5 doi: 10.1200/JCO.22.02906. PMID: 37669480
Belinostat in Patients With Relapsed or Refractory Peripheral T-Cell Lymphoma: Results of the Pivotal Phase II BELIEF (CLN-19) Study.
O'Connor OA, Horwitz S, Masszi T, Van Hoof A, Brown P, Doorduijn J, Hess G, Jurczak W, Knoblauch P, Chawla S, Bhat G, Choi MR, Walewski J, Savage K, Foss F, Allen LF, Shustov A
J Clin Oncol 2015 Aug 10;33(23):2492-9. Epub 2015 Jun 22 doi: 10.1200/JCO.2014.59.2782. PMID: 26101246Free PMC Article
Extrapleural pneumonectomy or supportive care: treatment of malignant pleural mesothelioma?
Sharif S, Zahid I, Routledge T, Scarci M
Interact Cardiovasc Thorac Surg 2011 Jun;12(6):1040-5. Epub 2011 Mar 8 doi: 10.1510/icvts.2010.256289. PMID: 21388982
Phase III trial comparing supportive care alone with supportive care with oral topotecan in patients with relapsed small-cell lung cancer.
O'Brien ME, Ciuleanu TE, Tsekov H, Shparyk Y, Cuceviá B, Juhasz G, Thatcher N, Ross GA, Dane GC, Crofts T
J Clin Oncol 2006 Dec 1;24(34):5441-7. doi: 10.1200/JCO.2006.06.5821. PMID: 17135646

Diagnosis

Daratumumab, carfilzomib, lenalidomide, and dexamethasone with tandem transplant for high-risk newly diagnosed myeloma.
Touzeau C, Perrot A, Hulin C, Manier S, Macro M, Chretien ML, Karlin L, Escoffre M, Jacquet C, Tiab M, Leleu X, Avet-Loiseau H, Jobert A, Planche L, Corre J, Moreau P
Blood 2024 May 16;143(20):2029-2036. doi: 10.1182/blood.2023023597. PMID: 38394666
Clinical features and treatment of 7 Chinese TAFRO syndromes from 96 de novo Castleman diseases: a 10-year retrospective study.
Zhang Y, Suo SS, Yang HJ, Zhou XP, You LS, Yu WJ, Wang ZM, Jin J
J Cancer Res Clin Oncol 2020 Feb;146(2):357-365. Epub 2020 Jan 14 doi: 10.1007/s00432-019-03120-w. PMID: 31938902Free PMC Article
Dexamethasone, rituximab and cyclophosphamide for relapsed and/or refractory and treatment-naïve patients with Waldenstrom macroglobulinemia.
Paludo J, Abeykoon JP, Kumar S, Shreders A, Ailawadhi S, Gertz MA, Kourelis T, King RL, Reeder CB, Leung N, Kyle RA, Buadi FK, Habermann TM, Dingli D, Witzig TE, Dispenzieri A, Lacy MQ, Go RS, Lin Y, Gonsalves WI, Warsame R, Lust JA, Rajkumar SV, Ansell SM, Kapoor P
Br J Haematol 2017 Oct;179(1):98-105. Epub 2017 Aug 8 doi: 10.1111/bjh.14826. PMID: 28786474
Thrombocytopenia related neonatal outcome in preterms.
Bonifacio L, Petrova A, Nanjundaswamy S, Mehta R
Indian J Pediatr 2007 Mar;74(3):269-74. doi: 10.1007/s12098-007-0042-x. PMID: 17401266
Systemic lupus erythematosus complicated by thrombotic microangiopathy.
Jain R, Chartash E, Susin M, Furie R
Semin Arthritis Rheum 1994 Dec;24(3):173-82. doi: 10.1016/0049-0172(94)90073-6. PMID: 7899875

Therapy

Daratumumab, carfilzomib, lenalidomide, and dexamethasone with tandem transplant for high-risk newly diagnosed myeloma.
Touzeau C, Perrot A, Hulin C, Manier S, Macro M, Chretien ML, Karlin L, Escoffre M, Jacquet C, Tiab M, Leleu X, Avet-Loiseau H, Jobert A, Planche L, Corre J, Moreau P
Blood 2024 May 16;143(20):2029-2036. doi: 10.1182/blood.2023023597. PMID: 38394666
Oral Selinexor as Maintenance Therapy After First-Line Chemotherapy for Advanced or Recurrent Endometrial Cancer.
Vergote I, Pérez-Fidalgo JA, Hamilton EP, Valabrega G, Van Gorp T, Sehouli J, Cibula D, Levy T, Welch S, Richardson DL, Guerra EM, Scambia G, Henry S, Wimberger P, Miller DS, Klat J, Martínez-Garcia J, Raspagliesi F, Pothuri B, Romero I, Bergamini A, Slomovitz B, Schochter F, Høgdall E, Fariñas-Madrid L, Monk BJ, Michel D, Kauffman MG, Shacham S, Mirza MR, Makker V; ENGOT-EN5/GOG-3055/SIENDO Investigators
J Clin Oncol 2023 Dec 10;41(35):5400-5410. Epub 2023 Sep 5 doi: 10.1200/JCO.22.02906. PMID: 37669480
Maintenance metronomic chemotherapy for metastatic/recurrent nasopharyngeal carcinoma.
Twu CW, Lin PJ, Tsou HH, Liu YC, Jiang RS, Liang KL, Lin TY, Wang WY, Lin JC
Head Neck 2022 Jun;44(6):1453-1461. Epub 2022 Apr 1 doi: 10.1002/hed.27044. PMID: 35362634
Belinostat in Patients With Relapsed or Refractory Peripheral T-Cell Lymphoma: Results of the Pivotal Phase II BELIEF (CLN-19) Study.
O'Connor OA, Horwitz S, Masszi T, Van Hoof A, Brown P, Doorduijn J, Hess G, Jurczak W, Knoblauch P, Chawla S, Bhat G, Choi MR, Walewski J, Savage K, Foss F, Allen LF, Shustov A
J Clin Oncol 2015 Aug 10;33(23):2492-9. Epub 2015 Jun 22 doi: 10.1200/JCO.2014.59.2782. PMID: 26101246Free PMC Article
Phase III trial comparing supportive care alone with supportive care with oral topotecan in patients with relapsed small-cell lung cancer.
O'Brien ME, Ciuleanu TE, Tsekov H, Shparyk Y, Cuceviá B, Juhasz G, Thatcher N, Ross GA, Dane GC, Crofts T
J Clin Oncol 2006 Dec 1;24(34):5441-7. doi: 10.1200/JCO.2006.06.5821. PMID: 17135646

Prognosis

Thrombosis and Thrombocytopenia after ChAdOx1 nCoV-19 Vaccination.
Schultz NH, Sørvoll IH, Michelsen AE, Munthe LA, Lund-Johansen F, Ahlen MT, Wiedmann M, Aamodt AH, Skattør TH, Tjønnfjord GE, Holme PA
N Engl J Med 2021 Jun 3;384(22):2124-2130. Epub 2021 Apr 9 doi: 10.1056/NEJMoa2104882. PMID: 33835768Free PMC Article
Belinostat in Patients With Relapsed or Refractory Peripheral T-Cell Lymphoma: Results of the Pivotal Phase II BELIEF (CLN-19) Study.
O'Connor OA, Horwitz S, Masszi T, Van Hoof A, Brown P, Doorduijn J, Hess G, Jurczak W, Knoblauch P, Chawla S, Bhat G, Choi MR, Walewski J, Savage K, Foss F, Allen LF, Shustov A
J Clin Oncol 2015 Aug 10;33(23):2492-9. Epub 2015 Jun 22 doi: 10.1200/JCO.2014.59.2782. PMID: 26101246Free PMC Article
Real-world study of everolimus in advanced progressive neuroendocrine tumors.
Panzuto F, Rinzivillo M, Fazio N, de Braud F, Luppi G, Zatelli MC, Lugli F, Tomassetti P, Riccardi F, Nuzzo C, Brizzi MP, Faggiano A, Zaniboni A, Nobili E, Pastorelli D, Cascinu S, Merlano M, Chiara S, Antonuzzo L, Funaioli C, Spada F, Pusceddu S, Fontana A, Ambrosio MR, Cassano A, Campana D, Cartenì G, Appetecchia M, Berruti A, Colao A, Falconi M, Delle Fave G
Oncologist 2014 Sep;19(9):966-74. Epub 2014 Aug 12 doi: 10.1634/theoncologist.2014-0037. PMID: 25117065Free PMC Article
Extrapleural pneumonectomy or supportive care: treatment of malignant pleural mesothelioma?
Sharif S, Zahid I, Routledge T, Scarci M
Interact Cardiovasc Thorac Surg 2011 Jun;12(6):1040-5. Epub 2011 Mar 8 doi: 10.1510/icvts.2010.256289. PMID: 21388982
Phase III trial comparing supportive care alone with supportive care with oral topotecan in patients with relapsed small-cell lung cancer.
O'Brien ME, Ciuleanu TE, Tsekov H, Shparyk Y, Cuceviá B, Juhasz G, Thatcher N, Ross GA, Dane GC, Crofts T
J Clin Oncol 2006 Dec 1;24(34):5441-7. doi: 10.1200/JCO.2006.06.5821. PMID: 17135646

Clinical prediction guides

Maintenance metronomic chemotherapy for metastatic/recurrent nasopharyngeal carcinoma.
Twu CW, Lin PJ, Tsou HH, Liu YC, Jiang RS, Liang KL, Lin TY, Wang WY, Lin JC
Head Neck 2022 Jun;44(6):1453-1461. Epub 2022 Apr 1 doi: 10.1002/hed.27044. PMID: 35362634
Phase II Study of Modified FOLFOX6 With Bevacizumab in Metastatic Gastroesophageal Adenocarcinoma.
Li J, Yao X, Kortmansky JS, Fischbach NA, Stein S, Deng Y, Zhang Y, Doddamane I, Karimeddini D, Hochster HS, Lacy J
Am J Clin Oncol 2017 Apr;40(2):146-151. doi: 10.1097/COC.0000000000000114. PMID: 25144267
Real-world study of everolimus in advanced progressive neuroendocrine tumors.
Panzuto F, Rinzivillo M, Fazio N, de Braud F, Luppi G, Zatelli MC, Lugli F, Tomassetti P, Riccardi F, Nuzzo C, Brizzi MP, Faggiano A, Zaniboni A, Nobili E, Pastorelli D, Cascinu S, Merlano M, Chiara S, Antonuzzo L, Funaioli C, Spada F, Pusceddu S, Fontana A, Ambrosio MR, Cassano A, Campana D, Cartenì G, Appetecchia M, Berruti A, Colao A, Falconi M, Delle Fave G
Oncologist 2014 Sep;19(9):966-74. Epub 2014 Aug 12 doi: 10.1634/theoncologist.2014-0037. PMID: 25117065Free PMC Article
Extrapleural pneumonectomy or supportive care: treatment of malignant pleural mesothelioma?
Sharif S, Zahid I, Routledge T, Scarci M
Interact Cardiovasc Thorac Surg 2011 Jun;12(6):1040-5. Epub 2011 Mar 8 doi: 10.1510/icvts.2010.256289. PMID: 21388982
Ixabepilone: a novel microtubule inhibitor for the treatment of locally advanced or metastatic breast cancer.
Steinberg M
Clin Ther 2008 Sep;30(9):1590-617. doi: 10.1016/j.clinthera.2008.09.015. PMID: 18840366

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