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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

Disease characteristics

Excerpted from the GeneReview: ETV6-Related Thrombocytopenia and Predisposition to Leukemia
Individuals with ETV6-related 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 high risk of developing a hematologic malignancy (with B-cell acute lymphoblastic leukemia [B-ALL] being the most common) and possibly other benign and malignant solid tumors. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Genetically Related (Allelic) Disorders  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  Chapter Notes  |  References
Authors:
Bojana Pencheva  |  Jorge Di Paola  |  Christopher C Porter   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.
See: Feature record | Search on this feature
Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
See: Feature record | Search on this feature
Epistaxis
MedGen UID:
4996
•Concept ID:
C0014591
•
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
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
Increased mean corpuscular volume
MedGen UID:
81303
•Concept ID:
C0302845
•
Finding
Larger than normal size of erythrocytes.
See: Feature record | Search on this feature
Decreased total neutrophil count
MedGen UID:
163121
•Concept ID:
C0853697
•
Finding
Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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

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Recent clinical studies

Etiology

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Diagnosis

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Therapy

Isatuximab, carfilzomib, lenalidomide, and dexamethasone induction in newly diagnosed myeloma: analysis of the MIDAS trial.
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Prognosis

Isatuximab, carfilzomib, lenalidomide, and dexamethasone induction in newly diagnosed myeloma: analysis of the MIDAS trial.
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Incidence and prognostic significance of thrombocytopenia in patients treated with prolonged heparin therapy.
Oliveira GB, Crespo EM, Becker RC, Honeycutt EF, Abrams CS, Anstrom KJ, Berger PB, Davidson-Ray LD, Eisenstein EL, Kleiman NS, Moliterno DJ, Moll S, Rice L, Rodgers JE, Steinhubl SR, Tapson VF, Ohman EM, Granger CB; Complications After Thrombocytopenia Caused by Heparin (CATCH) Registry Investigators
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Fetal thrombocytopenia and its relation to maternal thrombocytopenia.
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Clinical prediction guides

Isatuximab, carfilzomib, lenalidomide, and dexamethasone induction in newly diagnosed myeloma: analysis of the MIDAS trial.
Perrot A, Touzeau C, Lambert J, Hulin C, Caillot D, Karlin L, Arnulf B, Rey P, Garderet L, Macro M, Escoffre Barbe M, Gay J, Chalopin T, Gounot R, Schiano JM, Tiab M, Mohty M, Kuhnowski F, Fontan J, Manier S, Orsini-Piocelle F, Vincent L, Rigaudeau S, Leleu X, Hebraud B, Flet L, Malfuson JV, Jacquet C, Chaoui D, Meuleman N, Abarah W, Montes L, Benramdane R, Sonntag C, Zerazhi H, Danu A, Allangba O, Dib M, Roussel M, Cereja S, Depaus J, Branche N, Demarquette H, Richez V, Cherel B, Frenzel L, Vekemans MC, Bigot N, Avet-Loiseau H, Corre J, Moreau P
Blood 2025 Jul 3;146(1):52-61. doi: 10.1182/blood.2024026230. PMID: 39841461
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Invest New Drugs 2024 Feb;42(1):127-135. Epub 2024 Jan 25 doi: 10.1007/s10637-024-01420-8. PMID: 38270822
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
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

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