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Thrombocytopenia 6(THC6)

MedGen UID:
934756
Concept ID:
C4310789
Disease or Syndrome
Synonyms: THC6; THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 6
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SRC (20q11.23)
 
OMIM®: 616937
Orphanet: ORPHA480851

Definition

Thrombocytopenia-6 is an autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. Patients may also have bone abnormalities, including osteoporosis or tooth loss, as well as an increased risk for myelofibrosis (summary by Turro et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see 313900. [from OMIM]

Clinical features

From HPO
Myelofibrosis
MedGen UID:
7929
Concept ID:
C0001815
Neoplastic Process
Primary myelofibrosis is a condition characterized by the buildup of scar tissue (fibrosis) in the bone marrow, the tissue that produces blood cells. Because of the fibrosis, the bone marrow is unable to make enough normal blood cells. The shortage of blood cells causes many of the signs and symptoms of primary myelofibrosis.\n\nInitially, most people with primary myelofibrosis have no signs or symptoms. Eventually, fibrosis can lead to a reduction in the number of red blood cells, white blood cells, and platelets. A shortage of red blood cells (anemia) often causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood cells can lead to an increased number of infections, and a reduction of platelets can cause easy bleeding or bruising.\n\nBecause blood cell formation (hematopoiesis) in the bone marrow is disrupted, other organs such as the spleen or liver may begin to produce blood cells. This process, called extramedullary hematopoiesis, often leads to an enlarged spleen (splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may feel pain or fullness in the abdomen, especially below the ribs on the left side. Other common signs and symptoms of primary myelofibrosis include fever, night sweats, and bone pain.\n\nPrimary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can occur at any age.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Bone marrow hypercellularity
MedGen UID:
349782
Concept ID:
C1860320
Finding
A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.
Spontaneous, recurrent epistaxis
MedGen UID:
816045
Concept ID:
C3809715
Finding
Osteoporosis
MedGen UID:
14535
Concept ID:
C0029456
Disease or Syndrome
Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Large forehead
MedGen UID:
326962
Concept ID:
C1839783
Finding
Spontaneous, recurrent epistaxis
MedGen UID:
816045
Concept ID:
C3809715
Finding
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.
Hypotelorism
MedGen UID:
96107
Concept ID:
C0424711
Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).

Recent clinical studies

Etiology

Scully M, Singh D, Lown R, Poles A, Solomon T, Levi M, Goldblatt D, Kotoucek P, Thomas W, Lester W
N Engl J Med 2021 Jun 10;384(23):2202-2211. Epub 2021 Apr 16 doi: 10.1056/NEJMoa2105385. PMID: 33861525Free PMC Article
Eriguchi T, Tsukamoto N, Kuroiwa N, Nemoto T, Ogata T, Okubo Y, Nakano S, Sugawara A
Pract Radiat Oncol 2021 Jan-Feb;11(1):44-52. Epub 2020 Aug 10 doi: 10.1016/j.prro.2020.08.002. PMID: 32791232
Pokrovsky VS, Vinnikov D
Expert Rev Anticancer Ther 2019 Jan;19(1):93-104. Epub 2018 Nov 23 doi: 10.1080/14737140.2019.1549992. PMID: 30449214
Talpaz M, Erickson-Viitanen S, Hou K, Hamburg S, Baer MR
J Hematol Oncol 2018 Aug 7;11(1):101. doi: 10.1186/s13045-018-0642-0. PMID: 30086777Free PMC Article
Sui JD, Wang Y, Wan Y, Wu YZ
Drug Des Devel Ther 2018;12:1645-1657. Epub 2018 Jun 8 doi: 10.2147/DDDT.S167077. PMID: 29922039Free PMC Article

Diagnosis

Janssen LMA, van der Flier M, de Vries E
Front Immunol 2021;12:620709. Epub 2021 Mar 23 doi: 10.3389/fimmu.2021.620709. PMID: 33833753Free PMC Article
Ishida T, Kimura H, Ozaki S, Kubo K, Sunami K, Takezako N, Fujita H, Hayashi T, Kiguchi T, Ohashi K, Yamamoto S, Takamatsu H, Kosugi H, Ohta K, Sakai R, Handa H, Kondo S, Abe Y, Omoto E, Mitani K, Morita S, Murakami H, Shimizu K
Ann Hematol 2020 May;99(5):1063-1072. Epub 2020 Apr 4 doi: 10.1007/s00277-020-03988-6. PMID: 32248251
Wang Q, Sun M, Lv H, Lu P, Ma C, Liu Y, Liu S, Tong H, Hu Z, Gao Y
Toxicon 2020 Jan 30;174:43-47. Epub 2019 Dec 24 doi: 10.1016/j.toxicon.2019.12.156. PMID: 31989928
Overman MJ, Adam L, Raghav K, Wang J, Kee B, Fogelman D, Eng C, Vilar E, Shroff R, Dasari A, Wolff R, Morris J, Karunasena E, Pisanic TR 2nd, Azad N, Kopetz S
Ann Oncol 2018 Jan 1;29(1):139-144. doi: 10.1093/annonc/mdx688. PMID: 29069279Free PMC Article
Polizzotto MN, Uldrick TS, Wyvill KM, Aleman K, Marshall V, Wang V, Whitby D, Pittaluga S, Jaffe ES, Millo C, Tosato G, Little RF, Steinberg SM, Sereti I, Yarchoan R
Clin Infect Dis 2016 Mar 15;62(6):730-738. Epub 2015 Dec 12 doi: 10.1093/cid/civ996. PMID: 26658701Free PMC Article

Therapy

Scully M, Singh D, Lown R, Poles A, Solomon T, Levi M, Goldblatt D, Kotoucek P, Thomas W, Lester W
N Engl J Med 2021 Jun 10;384(23):2202-2211. Epub 2021 Apr 16 doi: 10.1056/NEJMoa2105385. PMID: 33861525Free PMC Article
Chen Z, Lv Y, Li H, Diao R, Zhou J, Yu T
Medicine (Baltimore) 2021 Jan 22;100(3):e24068. doi: 10.1097/MD.0000000000024068. PMID: 33546009Free PMC Article
Eriguchi T, Tsukamoto N, Kuroiwa N, Nemoto T, Ogata T, Okubo Y, Nakano S, Sugawara A
Pract Radiat Oncol 2021 Jan-Feb;11(1):44-52. Epub 2020 Aug 10 doi: 10.1016/j.prro.2020.08.002. PMID: 32791232
Ishida T, Kimura H, Ozaki S, Kubo K, Sunami K, Takezako N, Fujita H, Hayashi T, Kiguchi T, Ohashi K, Yamamoto S, Takamatsu H, Kosugi H, Ohta K, Sakai R, Handa H, Kondo S, Abe Y, Omoto E, Mitani K, Morita S, Murakami H, Shimizu K
Ann Hematol 2020 May;99(5):1063-1072. Epub 2020 Apr 4 doi: 10.1007/s00277-020-03988-6. PMID: 32248251
Wang Q, Sun M, Lv H, Lu P, Ma C, Liu Y, Liu S, Tong H, Hu Z, Gao Y
Toxicon 2020 Jan 30;174:43-47. Epub 2019 Dec 24 doi: 10.1016/j.toxicon.2019.12.156. PMID: 31989928

Prognosis

Janssen LMA, van der Flier M, de Vries E
Front Immunol 2021;12:620709. Epub 2021 Mar 23 doi: 10.3389/fimmu.2021.620709. PMID: 33833753Free PMC Article
Eriguchi T, Tsukamoto N, Kuroiwa N, Nemoto T, Ogata T, Okubo Y, Nakano S, Sugawara A
Pract Radiat Oncol 2021 Jan-Feb;11(1):44-52. Epub 2020 Aug 10 doi: 10.1016/j.prro.2020.08.002. PMID: 32791232
Ishida T, Kimura H, Ozaki S, Kubo K, Sunami K, Takezako N, Fujita H, Hayashi T, Kiguchi T, Ohashi K, Yamamoto S, Takamatsu H, Kosugi H, Ohta K, Sakai R, Handa H, Kondo S, Abe Y, Omoto E, Mitani K, Morita S, Murakami H, Shimizu K
Ann Hematol 2020 May;99(5):1063-1072. Epub 2020 Apr 4 doi: 10.1007/s00277-020-03988-6. PMID: 32248251
Ghobrial IM, Liu CJ, Redd RA, Perez RP, Baz R, Zavidij O, Sklavenitis-Pistofidis R, Richardson PG, Anderson KC, Laubach J, Henrick P, Savell A, Reyes K, Hornburg K, Chuma S, Sabbatini P, Robbins MD, Becker PS
Clin Cancer Res 2020 Jan 15;26(2):344-353. Epub 2019 Oct 31 doi: 10.1158/1078-0432.CCR-19-0647. PMID: 31672767
Wang F, Molina J, Satele D, Yin J, Lim VS, Adjei AA
Invest New Drugs 2019 Aug;37(4):658-665. Epub 2018 Oct 31 doi: 10.1007/s10637-018-0690-x. PMID: 30382439

Clinical prediction guides

Scully M, Singh D, Lown R, Poles A, Solomon T, Levi M, Goldblatt D, Kotoucek P, Thomas W, Lester W
N Engl J Med 2021 Jun 10;384(23):2202-2211. Epub 2021 Apr 16 doi: 10.1056/NEJMoa2105385. PMID: 33861525Free PMC Article
Chen Z, Lv Y, Li H, Diao R, Zhou J, Yu T
Medicine (Baltimore) 2021 Jan 22;100(3):e24068. doi: 10.1097/MD.0000000000024068. PMID: 33546009Free PMC Article
Eriguchi T, Tsukamoto N, Kuroiwa N, Nemoto T, Ogata T, Okubo Y, Nakano S, Sugawara A
Pract Radiat Oncol 2021 Jan-Feb;11(1):44-52. Epub 2020 Aug 10 doi: 10.1016/j.prro.2020.08.002. PMID: 32791232
Ishida T, Kimura H, Ozaki S, Kubo K, Sunami K, Takezako N, Fujita H, Hayashi T, Kiguchi T, Ohashi K, Yamamoto S, Takamatsu H, Kosugi H, Ohta K, Sakai R, Handa H, Kondo S, Abe Y, Omoto E, Mitani K, Morita S, Murakami H, Shimizu K
Ann Hematol 2020 May;99(5):1063-1072. Epub 2020 Apr 4 doi: 10.1007/s00277-020-03988-6. PMID: 32248251
Wang F, Molina J, Satele D, Yin J, Lim VS, Adjei AA
Invest New Drugs 2019 Aug;37(4):658-665. Epub 2018 Oct 31 doi: 10.1007/s10637-018-0690-x. PMID: 30382439

Recent systematic reviews

Janssen LMA, van der Flier M, de Vries E
Front Immunol 2021;12:620709. Epub 2021 Mar 23 doi: 10.3389/fimmu.2021.620709. PMID: 33833753Free PMC Article
Pokrovsky VS, Vinnikov D
Expert Rev Anticancer Ther 2019 Jan;19(1):93-104. Epub 2018 Nov 23 doi: 10.1080/14737140.2019.1549992. PMID: 30449214
Mohammad NH, ter Veer E, Ngai L, Mali R, van Oijen MG, van Laarhoven HW
Cancer Metastasis Rev 2015 Sep;34(3):429-41. doi: 10.1007/s10555-015-9576-y. PMID: 26267802Free PMC Article

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