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Thrombocytopenia 10(THC10)

MedGen UID:
1049284
•Concept ID:
CN372722
•
Disease or Syndrome
Synonyms: THC10; THROMBOCYTOPENIA, AUTOSOMAL RECESSIVE, 10
 
Gene (location): PTPRJ (11p11.2)
 
Monarch Initiative: MONDO:0957578
OMIM®: 620484

Definition

Thrombocytopenia-10 (THC10) is an autosomal recessive disorder characterized by decreased numbers of platelets apparent from birth or early childhood. Affected individuals may have mild bleeding tendency. Platelets are small, but do not show other morphologic defects. Platelets and megakaryocytes do show functional and developmental defects due to impaired activation of signaling pathways (Marconi et al., 2019). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900. [from OMIM]

Professional guidelines

PubMed

Postnatal treatment for children with fetal and neonatal alloimmune thrombocytopenia: a multicentre, retrospective, cohort study.
de Vos TW, Winkelhorst D, Árnadóttir V, van der Bom JG, Canals Surís C, Caram-Deelder C, Deschmann E, Haysom HE, Hverven HBC, Lozar Krivec J, McQuilten ZK, Muñiz-Diaz E, Nogués N, Oepkes D, Porcelijn L, van der Schoot CE, Saxonhouse M, Sola-Visner M, Tiblad E, Tiller H, Wood EM, Young V, Železnik M, de Haas M, Lopriore E
Lancet Haematol 2022 Nov;9(11):e844-e853. Epub 2022 Sep 12 doi: 10.1016/S2352-3026(22)00243-5. PMID: 36108655
Fondaparinux Pre-, Peri-, and/or Postpartum for the Prophylaxis/Treatment of Venous Thromboembolism (FondaPPP).
Dempfle CE, Koscielny J, Lindhoff-Last E, Linnemann B, Bux-Gewehr I, Kappert G, Scholz U, Kropff S, Eberle S, Bramlage P, Heinken A
Clin Appl Thromb Hemost 2021 Jan-Dec;27:10760296211014575. doi: 10.1177/10760296211014575. PMID: 33942675Free PMC Article
Oxymetholone treatment in myelofibrosis.
Hast R, Engstedt L, Jameson S, Killander A, Lundh B, Reizenstein P, Skårberg KO, Udén AM, Wadman B
Blut 1978 Jul 14;37(1):19-26. doi: 10.1007/BF01006549. PMID: 667366

Recent clinical studies

Etiology

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR
JAMA 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560Free PMC Article
Postnatal treatment for children with fetal and neonatal alloimmune thrombocytopenia: a multicentre, retrospective, cohort study.
de Vos TW, Winkelhorst D, Árnadóttir V, van der Bom JG, Canals Surís C, Caram-Deelder C, Deschmann E, Haysom HE, Hverven HBC, Lozar Krivec J, McQuilten ZK, Muñiz-Diaz E, Nogués N, Oepkes D, Porcelijn L, van der Schoot CE, Saxonhouse M, Sola-Visner M, Tiblad E, Tiller H, Wood EM, Young V, Železnik M, de Haas M, Lopriore E
Lancet Haematol 2022 Nov;9(11):e844-e853. Epub 2022 Sep 12 doi: 10.1016/S2352-3026(22)00243-5. PMID: 36108655
Targeting BCL-2 with venetoclax and dexamethasone in patients with relapsed/refractory t(11;14) multiple myeloma.
Kaufman JL, Gasparetto C, Schjesvold FH, Moreau P, Touzeau C, Facon T, Boise LH, Jiang Y, Yang X, Dunbar F, Vishwamitra D, Unger S, Macartney T, Pesko J, Yu Y, Salem AH, Ross JA, Hong WJ, Maciag PC, Pauff JM, Kumar S
Am J Hematol 2021 Apr 1;96(4):418-427. Epub 2021 Jan 19 doi: 10.1002/ajh.26083. PMID: 33368455Free PMC Article
Treatment outcomes and chronicity predictors for primary immune thrombocytopenia: 10-year data from an academic center.
Jaime-Pérez JC, Aguilar-Calderón P, Jiménez-Castillo RA, Ramos-Dávila EM, Salazar-Cavazos L, Gómez-Almaguer D
Ann Hematol 2020 Nov;99(11):2513-2520. Epub 2020 Sep 18 doi: 10.1007/s00277-020-04257-2. PMID: 32945941
Thrombocytopenia in neonatal sepsis: Incidence, severity and risk factors.
Ree IMC, Fustolo-Gunnink SF, Bekker V, Fijnvandraat KJ, Steggerda SJ, Lopriore E
PLoS One 2017;12(10):e0185581. Epub 2017 Oct 4 doi: 10.1371/journal.pone.0185581. PMID: 28977011Free PMC Article

Diagnosis

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR
JAMA 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560Free PMC Article
Postnatal treatment for children with fetal and neonatal alloimmune thrombocytopenia: a multicentre, retrospective, cohort study.
de Vos TW, Winkelhorst D, Árnadóttir V, van der Bom JG, Canals Surís C, Caram-Deelder C, Deschmann E, Haysom HE, Hverven HBC, Lozar Krivec J, McQuilten ZK, Muñiz-Diaz E, Nogués N, Oepkes D, Porcelijn L, van der Schoot CE, Saxonhouse M, Sola-Visner M, Tiblad E, Tiller H, Wood EM, Young V, Železnik M, de Haas M, Lopriore E
Lancet Haematol 2022 Nov;9(11):e844-e853. Epub 2022 Sep 12 doi: 10.1016/S2352-3026(22)00243-5. PMID: 36108655
Treatment outcomes and chronicity predictors for primary immune thrombocytopenia: 10-year data from an academic center.
Jaime-Pérez JC, Aguilar-Calderón P, Jiménez-Castillo RA, Ramos-Dávila EM, Salazar-Cavazos L, Gómez-Almaguer D
Ann Hematol 2020 Nov;99(11):2513-2520. Epub 2020 Sep 18 doi: 10.1007/s00277-020-04257-2. PMID: 32945941
Ruptured hemorrhagic corpus luteum as a presenting symptom of systemic lupus erythematous.
Feldman I, Alon B, Nesher G, Wolak T, Breuer GS
Clin Rheumatol 2020 Oct;39(10):3127-3129. Epub 2020 Jun 1 doi: 10.1007/s10067-020-05197-y. PMID: 32488769
Thrombocytopenia in neonatal sepsis: Incidence, severity and risk factors.
Ree IMC, Fustolo-Gunnink SF, Bekker V, Fijnvandraat KJ, Steggerda SJ, Lopriore E
PLoS One 2017;12(10):e0185581. Epub 2017 Oct 4 doi: 10.1371/journal.pone.0185581. PMID: 28977011Free PMC Article

Therapy

Pooled Safety Analysis of Single-Agent Lurbinectedin in Patients With Advanced Solid Tumours.
Leary A, Oaknin A, Trigo JM, Moreno V, Delord JP, Boni V, Braña I, Fernández C, Kahatt C, Nieto A, Cullell-Young M, Zeaiter A, Subbiah V
Eur J Cancer 2023 Oct;192:113259. Epub 2023 Jul 28 doi: 10.1016/j.ejca.2023.113259. PMID: 37634282
Tislelizumab with gemcitabine and oxaliplatin in patients with relapsed or refractory classic Hodgkin lymphoma: a multicenter phase II trial.
Ding K, Liu H, Ma J, Yang H, Cao L, Wang H, Peng H, Shi W, Zhao X, Wu W, Zhu H, Li J, Fan L
Haematologica 2023 Aug 1;108(8):2146-2154. doi: 10.3324/haematol.2022.282266. PMID: 36700408Free PMC Article
Evaluation of Treatment With Talazoparib and Avelumab in Patients With Recurrent Mismatch Repair Proficient Endometrial Cancer.
Konstantinopoulos PA, Gockley AA, Xiong N, Krasner C, Horowitz N, Campos S, Wright AA, Liu JF, Shea M, Yeku O, Castro C, Polak M, Lee EK, Sawyer H, Bowes B, Moroney J, Cheng SC, Tayob N, Bouberhan S, Spriggs D, Penson RT, Fleming GF, Nucci MR, Matulonis UA
JAMA Oncol 2022 Sep 1;8(9):1317-1322. doi: 10.1001/jamaoncol.2022.2181. PMID: 35900726Free PMC Article
Targeting BCL-2 with venetoclax and dexamethasone in patients with relapsed/refractory t(11;14) multiple myeloma.
Kaufman JL, Gasparetto C, Schjesvold FH, Moreau P, Touzeau C, Facon T, Boise LH, Jiang Y, Yang X, Dunbar F, Vishwamitra D, Unger S, Macartney T, Pesko J, Yu Y, Salem AH, Ross JA, Hong WJ, Maciag PC, Pauff JM, Kumar S
Am J Hematol 2021 Apr 1;96(4):418-427. Epub 2021 Jan 19 doi: 10.1002/ajh.26083. PMID: 33368455Free PMC Article
Overall Survival Benefit in Patients With Rituximab-Refractory Indolent Non-Hodgkin Lymphoma Who Received Obinutuzumab Plus Bendamustine Induction and Obinutuzumab Maintenance in the GADOLIN Study.
Cheson BD, Chua N, Mayer J, Dueck G, Trněný M, Bouabdallah K, Fowler N, Delwail V, Press O, Salles G, Gribben JG, Lennard A, Lugtenburg PJ, Fingerle-Rowson G, Mattiello F, Knapp A, Sehn LH
J Clin Oncol 2018 Aug 1;36(22):2259-2266. Epub 2018 Mar 27 doi: 10.1200/JCO.2017.76.3656. PMID: 29584548

Prognosis

Postnatal treatment for children with fetal and neonatal alloimmune thrombocytopenia: a multicentre, retrospective, cohort study.
de Vos TW, Winkelhorst D, Árnadóttir V, van der Bom JG, Canals Surís C, Caram-Deelder C, Deschmann E, Haysom HE, Hverven HBC, Lozar Krivec J, McQuilten ZK, Muñiz-Diaz E, Nogués N, Oepkes D, Porcelijn L, van der Schoot CE, Saxonhouse M, Sola-Visner M, Tiblad E, Tiller H, Wood EM, Young V, Železnik M, de Haas M, Lopriore E
Lancet Haematol 2022 Nov;9(11):e844-e853. Epub 2022 Sep 12 doi: 10.1016/S2352-3026(22)00243-5. PMID: 36108655
Targeting BCL-2 with venetoclax and dexamethasone in patients with relapsed/refractory t(11;14) multiple myeloma.
Kaufman JL, Gasparetto C, Schjesvold FH, Moreau P, Touzeau C, Facon T, Boise LH, Jiang Y, Yang X, Dunbar F, Vishwamitra D, Unger S, Macartney T, Pesko J, Yu Y, Salem AH, Ross JA, Hong WJ, Maciag PC, Pauff JM, Kumar S
Am J Hematol 2021 Apr 1;96(4):418-427. Epub 2021 Jan 19 doi: 10.1002/ajh.26083. PMID: 33368455Free PMC Article
Treatment outcomes and chronicity predictors for primary immune thrombocytopenia: 10-year data from an academic center.
Jaime-Pérez JC, Aguilar-Calderón P, Jiménez-Castillo RA, Ramos-Dávila EM, Salazar-Cavazos L, Gómez-Almaguer D
Ann Hematol 2020 Nov;99(11):2513-2520. Epub 2020 Sep 18 doi: 10.1007/s00277-020-04257-2. PMID: 32945941
Overall Survival Benefit in Patients With Rituximab-Refractory Indolent Non-Hodgkin Lymphoma Who Received Obinutuzumab Plus Bendamustine Induction and Obinutuzumab Maintenance in the GADOLIN Study.
Cheson BD, Chua N, Mayer J, Dueck G, Trněný M, Bouabdallah K, Fowler N, Delwail V, Press O, Salles G, Gribben JG, Lennard A, Lugtenburg PJ, Fingerle-Rowson G, Mattiello F, Knapp A, Sehn LH
J Clin Oncol 2018 Aug 1;36(22):2259-2266. Epub 2018 Mar 27 doi: 10.1200/JCO.2017.76.3656. PMID: 29584548
Thrombocytopenia in neonatal sepsis: Incidence, severity and risk factors.
Ree IMC, Fustolo-Gunnink SF, Bekker V, Fijnvandraat KJ, Steggerda SJ, Lopriore E
PLoS One 2017;12(10):e0185581. Epub 2017 Oct 4 doi: 10.1371/journal.pone.0185581. PMID: 28977011Free PMC Article

Clinical prediction guides

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR
JAMA 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560Free PMC Article
Treatment outcomes and chronicity predictors for primary immune thrombocytopenia: 10-year data from an academic center.
Jaime-Pérez JC, Aguilar-Calderón P, Jiménez-Castillo RA, Ramos-Dávila EM, Salazar-Cavazos L, Gómez-Almaguer D
Ann Hematol 2020 Nov;99(11):2513-2520. Epub 2020 Sep 18 doi: 10.1007/s00277-020-04257-2. PMID: 32945941
Apatinib Monotherapy for Chemotherapy-Refractory Metastatic Colorectal Cancer: A Multi-centre, Single-Arm, Prospective Study.
Wang F, Yuan X, Jia J, Bi X, Zhou Z, Zhou Q, Li X, Luo C, Deng M, Yi L, Li Y, Lu J, Su W, Chen H, Zhu Y, Wang S
Sci Rep 2020 Apr 8;10(1):6058. doi: 10.1038/s41598-020-62961-5. PMID: 32269247Free PMC Article
Thrombocytopenia in neonatal sepsis: Incidence, severity and risk factors.
Ree IMC, Fustolo-Gunnink SF, Bekker V, Fijnvandraat KJ, Steggerda SJ, Lopriore E
PLoS One 2017;12(10):e0185581. Epub 2017 Oct 4 doi: 10.1371/journal.pone.0185581. PMID: 28977011Free PMC Article
Vorinostat in solid and hematologic malignancies.
Siegel D, Hussein M, Belani C, Robert F, Galanis E, Richon VM, Garcia-Vargas J, Sanz-Rodriguez C, Rizvi S
J Hematol Oncol 2009 Jul 27;2:31. doi: 10.1186/1756-8722-2-31. PMID: 19635146Free PMC Article

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