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Thrombocytopenia 5(THC5)

MedGen UID:
863974
•Concept ID:
C4015537
•
Disease or Syndrome
Synonyms: THC5; THROMBOCYTOPENIA 5 WITH INCREASED SUSCEPTIBILITY TO MALIGNANCY; THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 5
 
Gene (location): ETV6 (12p13.2)
 
Monarch Initiative: MONDO:0014536
OMIM®: 616216

Authors:

Additional description

From OMIM
Thrombocytopenia-5 is an autosomal dominant disorder characterized by a decreased number of platelets and a bleeding tendency. Affected individuals have an increased susceptibility to the development of hematologic malignancies, and possibly to solid neoplasms. Thrombocytopenia is usually apparent in early childhood, whereas the development of malignancy can occur throughout life (summary by Zhang et al., 2015). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.  http://www.omim.org/entry/616216

Clinical features

From HPO
Precursor B-cell acute lymphoblastic leukemia
MedGen UID:
83896
•Concept ID:
C0349636
•
Neoplastic Process
A type of ALL characterized by elevated levels of B-cell lymphoblasts in the bone marrow and the blood.
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Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
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Epistaxis
MedGen UID:
4996
•Concept ID:
C0014591
•
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
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Thrombocytopenia
MedGen UID:
52737
•Concept ID:
C0040034
•
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
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Increased mean corpuscular volume
MedGen UID:
81303
•Concept ID:
C0302845
•
Finding
Larger than normal size of erythrocytes.
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Neutropenia
MedGen UID:
163121
•Concept ID:
C0853697
•
Finding
An abnormally low number of neutrophils in the peripheral blood.
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Petechiae
MedGen UID:
10680
•Concept ID:
C0031256
•
Disease or Syndrome
Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
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Bruising susceptibility
MedGen UID:
140849
•Concept ID:
C0423798
•
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.
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Professional guidelines

PubMed

Nine-year follow-up of lenalidomide plus rituximab as initial treatment for mantle cell lymphoma.
Yamshon S, Chen GZ, Gribbin C, Christos P, Shah B, Schuster SJ, Smith SM, Svoboda J, Furman RR, Leonard JP, Martin P, Ruan J
Blood Adv 2023 Nov 14;7(21):6579-6588. doi: 10.1182/bloodadvances.2023010606. PMID: 37682791Free PMC Article
Burden of Illness and Treatment Patterns in Second-line Large B-cell Lymphoma.
Snider JT, McMorrow D, Song X, Diakun D, Wade SW, Cheng P
Clin Ther 2022 Apr;44(4):521-538. Epub 2022 Feb 28 doi: 10.1016/j.clinthera.2022.02.004. PMID: 35241295
Diagnosis and management of heparin-induced thrombocytopenia.
Kouides PA, Fricke W
Expert Rev Cardiovasc Ther 2005 Mar;3(2):335-45. doi: 10.1586/14779072.3.2.335. PMID: 15853606

Recent clinical studies

Etiology

High incidence of immune-mediated inflammatory diseases in sepsis survivors: A nationwide exposed-nonexposed epidemiological study.
Mageau A, Helary A, Ruckly S, Strukov A, Papo T, Timsit JF, Sacre K
J Intern Med 2024 Feb;295(2):242-252. Epub 2023 Nov 20 doi: 10.1111/joim.13745. PMID: 37983848
Efficacy and Safety of Abrocitinib in Patients With Moderate-to-Severe Atopic Dermatitis: A Randomized Clinical Trial.
Silverberg JI, Simpson EL, Thyssen JP, Gooderham M, Chan G, Feeney C, Biswas P, Valdez H, DiBonaventura M, Nduaka C, Rojo R
JAMA Dermatol 2020 Aug 1;156(8):863-873. doi: 10.1001/jamadermatol.2020.1406. PMID: 32492087Free PMC Article
Niraparib plus bevacizumab versus niraparib alone for platinum-sensitive recurrent ovarian cancer (NSGO-AVANOVA2/ENGOT-ov24): a randomised, phase 2, superiority trial.
Mirza MR, Åvall Lundqvist E, Birrer MJ, dePont Christensen R, Nyvang GB, Malander S, Anttila M, Werner TL, Lund B, Lindahl G, Hietanen S, Peen U, Dimoula M, Roed H, Ør Knudsen A, Staff S, Krog Vistisen A, Bjørge L, Mäenpää JU; AVANOVA investigators
Lancet Oncol 2019 Oct;20(10):1409-1419. Epub 2019 Aug 29 doi: 10.1016/S1470-2045(19)30515-7. PMID: 31474354
Mini-laparoscopic splenectomy.
Backus CL, Park AE, Matthews BD, Heniford BT
J Laparoendosc Adv Surg Tech A 2000 Oct;10(5):259-62. doi: 10.1089/lap.2000.10.259. PMID: 11071405
Haemophagocytosis in early congenital syphilis.
Pohl M, Niemeyer CM, Hentschel R, Duffner U, Bergsträsser E, Brandis M
Eur J Pediatr 1999 Jul;158(7):553-5. doi: 10.1007/s004310051145. PMID: 10412813

Diagnosis

Trotabresib, an oral potent bromodomain and extraterminal inhibitor, in patients with high-grade gliomas: A phase I, "window-of-opportunity" study.
Moreno V, Manuel Sepúlveda J, Reardon DA, Pérez-Núñez Á, González León P, Hanna B, Filvaroff E, Aronchik I, Chang H, Amoroso B, Zuraek M, Sanchez-Perez T, Mendez C, Stephens D, Nikolova Z, Vogelbaum MA
Neuro Oncol 2023 Jun 2;25(6):1113-1122. doi: 10.1093/neuonc/noac263. PMID: 36455228Free PMC Article
Efficacy and Safety of Abrocitinib in Patients With Moderate-to-Severe Atopic Dermatitis: A Randomized Clinical Trial.
Silverberg JI, Simpson EL, Thyssen JP, Gooderham M, Chan G, Feeney C, Biswas P, Valdez H, DiBonaventura M, Nduaka C, Rojo R
JAMA Dermatol 2020 Aug 1;156(8):863-873. doi: 10.1001/jamadermatol.2020.1406. PMID: 32492087Free PMC Article
Niraparib plus bevacizumab versus niraparib alone for platinum-sensitive recurrent ovarian cancer (NSGO-AVANOVA2/ENGOT-ov24): a randomised, phase 2, superiority trial.
Mirza MR, Åvall Lundqvist E, Birrer MJ, dePont Christensen R, Nyvang GB, Malander S, Anttila M, Werner TL, Lund B, Lindahl G, Hietanen S, Peen U, Dimoula M, Roed H, Ør Knudsen A, Staff S, Krog Vistisen A, Bjørge L, Mäenpää JU; AVANOVA investigators
Lancet Oncol 2019 Oct;20(10):1409-1419. Epub 2019 Aug 29 doi: 10.1016/S1470-2045(19)30515-7. PMID: 31474354
Diagnosis and management of heparin-induced thrombocytopenia.
Kouides PA, Fricke W
Expert Rev Cardiovasc Ther 2005 Mar;3(2):335-45. doi: 10.1586/14779072.3.2.335. PMID: 15853606
Mini-laparoscopic splenectomy.
Backus CL, Park AE, Matthews BD, Heniford BT
J Laparoendosc Adv Surg Tech A 2000 Oct;10(5):259-62. doi: 10.1089/lap.2000.10.259. PMID: 11071405

Therapy

High incidence of immune-mediated inflammatory diseases in sepsis survivors: A nationwide exposed-nonexposed epidemiological study.
Mageau A, Helary A, Ruckly S, Strukov A, Papo T, Timsit JF, Sacre K
J Intern Med 2024 Feb;295(2):242-252. Epub 2023 Nov 20 doi: 10.1111/joim.13745. PMID: 37983848
Efficacy and Safety of Abrocitinib in Patients With Moderate-to-Severe Atopic Dermatitis: A Randomized Clinical Trial.
Silverberg JI, Simpson EL, Thyssen JP, Gooderham M, Chan G, Feeney C, Biswas P, Valdez H, DiBonaventura M, Nduaka C, Rojo R
JAMA Dermatol 2020 Aug 1;156(8):863-873. doi: 10.1001/jamadermatol.2020.1406. PMID: 32492087Free PMC Article
Niraparib plus bevacizumab versus niraparib alone for platinum-sensitive recurrent ovarian cancer (NSGO-AVANOVA2/ENGOT-ov24): a randomised, phase 2, superiority trial.
Mirza MR, Åvall Lundqvist E, Birrer MJ, dePont Christensen R, Nyvang GB, Malander S, Anttila M, Werner TL, Lund B, Lindahl G, Hietanen S, Peen U, Dimoula M, Roed H, Ør Knudsen A, Staff S, Krog Vistisen A, Bjørge L, Mäenpää JU; AVANOVA investigators
Lancet Oncol 2019 Oct;20(10):1409-1419. Epub 2019 Aug 29 doi: 10.1016/S1470-2045(19)30515-7. PMID: 31474354
Second-line chemotherapy with pemetrexed after gemcitabine failure in patients with advanced pancreatic cancer: a multicenter phase II trial.
Boeck S, Weigang-Köhler K, Fuchs M, Kettner E, Quietzsch D, Trojan J, Stötzer O, Zeuzem S, Lordick F, Köhne CH, Kröning H, Steinmetz T, Depenbrock H, Heinemann V
Ann Oncol 2007 Apr;18(4):745-51. Epub 2007 Jan 17 doi: 10.1093/annonc/mdl463. PMID: 17229775
Haemophagocytosis in early congenital syphilis.
Pohl M, Niemeyer CM, Hentschel R, Duffner U, Bergsträsser E, Brandis M
Eur J Pediatr 1999 Jul;158(7):553-5. doi: 10.1007/s004310051145. PMID: 10412813

Prognosis

High incidence of immune-mediated inflammatory diseases in sepsis survivors: A nationwide exposed-nonexposed epidemiological study.
Mageau A, Helary A, Ruckly S, Strukov A, Papo T, Timsit JF, Sacre K
J Intern Med 2024 Feb;295(2):242-252. Epub 2023 Nov 20 doi: 10.1111/joim.13745. PMID: 37983848
Second-line chemotherapy with pemetrexed after gemcitabine failure in patients with advanced pancreatic cancer: a multicenter phase II trial.
Boeck S, Weigang-Köhler K, Fuchs M, Kettner E, Quietzsch D, Trojan J, Stötzer O, Zeuzem S, Lordick F, Köhne CH, Kröning H, Steinmetz T, Depenbrock H, Heinemann V
Ann Oncol 2007 Apr;18(4):745-51. Epub 2007 Jan 17 doi: 10.1093/annonc/mdl463. PMID: 17229775
Haemophagocytosis in early congenital syphilis.
Pohl M, Niemeyer CM, Hentschel R, Duffner U, Bergsträsser E, Brandis M
Eur J Pediatr 1999 Jul;158(7):553-5. doi: 10.1007/s004310051145. PMID: 10412813
Fetal thrombocytopenia and its relation to maternal thrombocytopenia.
Burrows RF, Kelton JG
N Engl J Med 1993 Nov 11;329(20):1463-6. doi: 10.1056/NEJM199311113292005. PMID: 8413457
Long-term treatment of refractory HIV-related immune thrombocytopenia in a patient with haemophilia A.
Fabris F, Mares M, Sartori MT, Cordiano I, Girolami A
Haematologica 1992 Jan-Feb;77(1):79-81. PMID: 1398285

Clinical prediction guides

High incidence of immune-mediated inflammatory diseases in sepsis survivors: A nationwide exposed-nonexposed epidemiological study.
Mageau A, Helary A, Ruckly S, Strukov A, Papo T, Timsit JF, Sacre K
J Intern Med 2024 Feb;295(2):242-252. Epub 2023 Nov 20 doi: 10.1111/joim.13745. PMID: 37983848
ETV6 represses inflammatory response genes and regulates HSPC function during stress hematopoiesis in mice.
Bloom M, Oak N, Baskin-Doerfler R, Feng R, Iacobucci I, Baviskar P, Zhao X, Stroh AN, Li C, Ozark P, Tillman HS, Li Y, Verbist KC, Albeituni S, Scott DC, King MT, McKinney-Freeman SL, Weiss MJ, Yang JJ, Nichols KE
Blood Adv 2023 Sep 26;7(18):5608-5623. doi: 10.1182/bloodadvances.2022009313. PMID: 37522715Free PMC Article
Trotabresib, an oral potent bromodomain and extraterminal inhibitor, in patients with high-grade gliomas: A phase I, "window-of-opportunity" study.
Moreno V, Manuel Sepúlveda J, Reardon DA, Pérez-Núñez Á, González León P, Hanna B, Filvaroff E, Aronchik I, Chang H, Amoroso B, Zuraek M, Sanchez-Perez T, Mendez C, Stephens D, Nikolova Z, Vogelbaum MA
Neuro Oncol 2023 Jun 2;25(6):1113-1122. doi: 10.1093/neuonc/noac263. PMID: 36455228Free PMC Article
Efficacy and Safety of Abrocitinib in Patients With Moderate-to-Severe Atopic Dermatitis: A Randomized Clinical Trial.
Silverberg JI, Simpson EL, Thyssen JP, Gooderham M, Chan G, Feeney C, Biswas P, Valdez H, DiBonaventura M, Nduaka C, Rojo R
JAMA Dermatol 2020 Aug 1;156(8):863-873. doi: 10.1001/jamadermatol.2020.1406. PMID: 32492087Free PMC Article
Niraparib plus bevacizumab versus niraparib alone for platinum-sensitive recurrent ovarian cancer (NSGO-AVANOVA2/ENGOT-ov24): a randomised, phase 2, superiority trial.
Mirza MR, Åvall Lundqvist E, Birrer MJ, dePont Christensen R, Nyvang GB, Malander S, Anttila M, Werner TL, Lund B, Lindahl G, Hietanen S, Peen U, Dimoula M, Roed H, Ør Knudsen A, Staff S, Krog Vistisen A, Bjørge L, Mäenpää JU; AVANOVA investigators
Lancet Oncol 2019 Oct;20(10):1409-1419. Epub 2019 Aug 29 doi: 10.1016/S1470-2045(19)30515-7. PMID: 31474354

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