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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

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: 37682791 Free 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

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Recent clinical studies

Etiology

High incidence of immune-mediated inflammatory diseases in sepsis survivors: A nationwide exposed-nonexposed epidemiological study.

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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: 32492087 Free 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

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

Gossypol treatment of recurrent adult malignant gliomas.

Bushunow P, Reidenberg MM, Wasenko J, Winfield J, Lorenzo B, Lemke S, Himpler B, Corona R, Coyle T
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Diagnosis

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.

Ofatumumab in poor-prognosis chronic lymphocytic leukemia: a phase IV, non-interventional, observational study from the European Research Initiative on Chronic Lymphocytic Leukemia.

Moreno C, Montillo M, Panayiotidis P, Dimou M, Bloor A, Dupuis J, Schuh A, Norin S, Geisler C, Hillmen P, Doubek M, Trněný M, Obrtlikova P, Laurenti L, Stilgenbauer S, Smolej L, Ghia P, Cymbalista F, Jaeger U, Stamatopoulos K, Stavroyianni N, Carrington P, Zouabi H, Leblond V, Gomez-Garcia JC, Rubio M, Marasca R, Musuraca G, Rigacci L, Farina L, Paolini R, Pospisilova S, Kimby E, Bradley C, Montserrat E
Haematologica 2015 Apr;100(4):511-6. Epub 2015 Jan 16 doi: 10.3324/haematol.2014.118158. PMID: 25596264 Free PMC Article

Feasibility study of paclitaxel plus carboplatin in patients with endometrial cancer: a Japan Kanto Tumor Board study (JKTB trial).

Yamada K, Tanabe H, Imai M, Jobo T, Kudo K, Fujiwara H, Nagata C, Furuya K, Suzuki M, Ochiai K, Tanaka T, Yasuda M
J Obstet Gynaecol Res 2013 Jan;39(1):311-6. Epub 2012 May 28 doi: 10.1111/j.1447-0756.2012.01890.x. PMID: 22639962

Haemophagocytosis in early congenital syphilis.

Pohl M, Niemeyer CM, Hentschel R, Duffner U, Bergsträsser E, Brandis M
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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.

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

Feasibility study of paclitaxel plus carboplatin in patients with endometrial cancer: a Japan Kanto Tumor Board study (JKTB trial).

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

See all (100)

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

Use of the quinolones in treatment of severe bacterial infections in premature infants.

Wlazłowski J, Krzyzańska-Oberbek A, Sikora JP, Chlebna-Sokół D
Acta Pol Pharm 2000 Nov;57 Suppl:28-31. PMID: 11293256

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

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

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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

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.

Ofatumumab in poor-prognosis chronic lymphocytic leukemia: a phase IV, non-interventional, observational study from the European Research Initiative on Chronic Lymphocytic Leukemia.

Feasibility study of paclitaxel plus carboplatin in patients with endometrial cancer: a Japan Kanto Tumor Board study (JKTB trial).

See all (50)