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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

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.
Anemia
MedGen UID:
1526
Concept ID:
C0002871
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Increased mean corpuscular volume
MedGen UID:
81303
Concept ID:
C0302845
Finding
Larger than normal size of erythrocytes.
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.
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.
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.

Professional guidelines

PubMed

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
Que WC, Huang YF, Lin XY, Lan YQ, Gao XY, Wang XL, Wu RP, Du B, Huang XB, Qiu HQ, Zhong DT
Anticancer Drugs 2019 Mar;30(3):302-307. doi: 10.1097/CAD.0000000000000735. PMID: 30520775
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

Tian Z, Zhang F, Li P, Wang J, Yang J, Zhang P, Yao W, Wang X
BMC Cancer 2020 Jul 28;20(1):698. doi: 10.1186/s12885-020-07199-0. PMID: 32723378Free PMC Article
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
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
Dager WE, White RH
Expert Opin Pharmacother 2003 Jun;4(6):919-40. doi: 10.1517/14656566.4.6.919. PMID: 12783589
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

Diagnosis

Al-Matary A, Almatari F, Al-Matary M, AlDhaefi A, Alqahtani MHS, Alhulaimi EA, AlOtaiby S, Almehiny K, John LS, Alanazi FS, Ali AM, Aldandan FK
J Infect Public Health 2021 Jun;14(6):702-708. Epub 2021 Apr 20 doi: 10.1016/j.jiph.2021.03.013. PMID: 34020209Free PMC Article
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
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
Kouides PA, Fricke W
Expert Rev Cardiovasc Ther 2005 Mar;3(2):335-45. doi: 10.1586/14779072.3.2.335. PMID: 15853606
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

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
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
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
Pollak U
J Thromb Haemost 2019 Oct;17(10):1608-1622. Epub 2019 Aug 4 doi: 10.1111/jth.14575. PMID: 31313454
Dager WE, White RH
Expert Opin Pharmacother 2003 Jun;4(6):919-40. doi: 10.1517/14656566.4.6.919. PMID: 12783589

Prognosis

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
Li L, Chen L, Yan L, Guo Y, Li F, Fan M, Lan M, Lai X, Zhou J, Huang Y, Xu P, Lang J, Feng M
Radiat Oncol 2023 Jul 4;18(1):109. doi: 10.1186/s13014-023-02310-8. PMID: 37403098Free PMC Article
Mego M, Svetlovska D, Reckova M, Angelis D, Kalavska K, Obertova J, Palacka P, Rejlekova K, Sycova-Mila Z, Chovanec M, Mardiak J
Invest New Drugs 2021 Dec;39(6):1664-1670. Epub 2021 May 29 doi: 10.1007/s10637-021-01130-5. PMID: 34052929
Hsu SJ, Xu X, Chen MP, Zhao ZY, Wang Y, Yin X, Zhang L, Ge NL, Chen Y, Wang YH, Luo JF, Ren ZG, Chen RX
Acad Radiol 2021 Nov;28 Suppl 1:S157-S166. Epub 2021 Feb 27 doi: 10.1016/j.acra.2021.01.024. PMID: 33653656
Qi F, Dong M, He X, Li Y, Wang W, Liu P, Yang J, Gui L, Zhang C, Yang S, Zhou S, Shi Y
Ann Hematol 2017 Feb;96(2):245-251. Epub 2016 Nov 17 doi: 10.1007/s00277-016-2877-6. PMID: 27858107

Clinical prediction guides

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
Mego M, Svetlovska D, Reckova M, Angelis D, Kalavska K, Obertova J, Palacka P, Rejlekova K, Sycova-Mila Z, Chovanec M, Mardiak J
Invest New Drugs 2021 Dec;39(6):1664-1670. Epub 2021 May 29 doi: 10.1007/s10637-021-01130-5. PMID: 34052929
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
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
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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