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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): Gene(s) directly associated with this condition or phenotype.	ETV6 (12p13.2)

Monarch Initiative:	MONDO:0014536
OMIM®:	616216

Disease characteristics

Excerpted from the GeneReview: ETV6 Thrombocytopenia and Predisposition to Leukemia

Individuals with ETV6 thrombocytopenia and predisposition to leukemia most often present with a lifelong history of thrombocytopenia, which is usually in the mild to moderate range. No syndromic features or associations are consistently shared across pedigrees. Affected individuals also have a moderate risk of developing a hematologic malignancy (with B-cell acute lymphoblastic leukemia [B-ALL] being the most common) and possibly other malignant solid tumors, particularly colorectal cancer. [from GeneReviews]

Authors:
Christopher C Porter | Jorge Di Paola | Bojana Pencheva view full author information

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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Abnormality of blood and blood-forming tissues
Abnormality of the immune system
- Neutropenia
Abnormality of the integument
- Bruising susceptibility
- Petechiae
Neoplasm
- Precursor B-cell acute lymphoblastic leukemia

Professional guidelines

PubMed

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Anticancer Drugs 2019 Mar;30(3):302-307. doi: 10.1097/CAD.0000000000000735. PMID: 30520775

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

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Recent clinical studies

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Mini-laparoscopic splenectomy.

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Diagnosis

Efficacy and Safety of Abrocitinib in Patients With Moderate-to-Severe Atopic Dermatitis: A Randomized Clinical Trial.

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Heparin-induced thrombocytopenia complicating extracorporeal membrane oxygenation support: Review of the literature and alternative anticoagulants.

Pollak U
J Thromb Haemost 2019 Oct;17(10):1608-1622. Epub 2019 Aug 4 doi: 10.1111/jth.14575. PMID: 31313454

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

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Therapy

Efficacy and Safety of Abrocitinib in Patients With Moderate-to-Severe Atopic Dermatitis: A Randomized Clinical Trial.

Niraparib plus bevacizumab versus niraparib alone for platinum-sensitive recurrent ovarian cancer (NSGO-AVANOVA2/ENGOT-ov24): a randomised, phase 2, superiority trial.

Heparin-induced thrombocytopenia complicating extracorporeal membrane oxygenation support: Review of the literature and alternative anticoagulants.

Pollak U
J Thromb Haemost 2019 Oct;17(10):1608-1622. Epub 2019 Aug 4 doi: 10.1111/jth.14575. PMID: 31313454

Heparin-induced thrombocytopenia complicating extracorporeal membrane oxygenation support in pediatric patients: review of the literature and alternative anticoagulants.

Pollak U
Perfusion 2018 May;33(1_suppl):7-17. doi: 10.1177/0267659118766723. PMID: 29788841

Diagnosis and management of heparin-induced thrombocytopenia.

Kouides PA, Fricke W
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Prognosis

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Que WC, Huang YF, Lin XY, Lan YQ, Gao XY, Wang XL, Wu RP, Du B, Huang XB, Qiu HQ, Zhong DT
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Efficacy and Safety of Abrocitinib in Patients With Moderate-to-Severe Atopic Dermatitis: A Randomized Clinical Trial.

Niraparib plus bevacizumab versus niraparib alone for platinum-sensitive recurrent ovarian cancer (NSGO-AVANOVA2/ENGOT-ov24): a randomised, phase 2, superiority trial.

Glycoprotein IIb/IIIa inhibitor-associated thrombocytopenia: clinical predictors and effect on outcome.

George BJ, Eckart RE, Shry EA, Simpson DE
Cardiology 2004;102(4):184-7. Epub 2004 Sep 22 doi: 10.1159/000081008. PMID: 15452390

Fetal thrombocytopenia and its relation to maternal thrombocytopenia.

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N Engl J Med 1993 Nov 11;329(20):1463-6. doi: 10.1056/NEJM199311113292005. PMID: 8413457

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