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Thrombocytopenia 2(THC2)

MedGen UID:
349976
Concept ID:
C1861185
Disease or Syndrome
Synonyms: THC2; Thrombocytopenia autosomal dominant 2
 
Gene (location): ANKRD26 (10p12.1)
 
Monarch Initiative: MONDO:0008555
OMIM®: 188000

Disease characteristics

Excerpted from the GeneReview: ANKRD26-Related Thrombocytopenia
ANKRD26-related thrombocytopenia is characterized by lifelong mild-to-moderate thrombocytopenia with a normal platelet size and no syndromic associations. Most individuals have normal hemostasis or a mild bleeding phenotype and do not develop severe spontaneous bleeding. Some individuals may have concomitant erythrocytosis and leukocytosis. The risk for myeloid malignancies (including myelodysplastic syndrome, acute myelogenous leukemia, and chronic myelogenous leukemia) is increased in individuals with ANKRD26 pathogenic variants. [from GeneReviews]
Authors:
Juliana Perez Botero  |  Stefanie N Dugan  |  Matthew W Anderson   view full author information

Additional description

From OMIM
Thrombocytopenia-2 (THC2) is an autosomal dominant nonsyndromic disorder characterized by decreased numbers of normal platelets, resulting in a mild bleeding tendency. Laboratory studies show no defects in platelet function or morphology, and bone marrow examination shows normal numbers of megakaryocytes and normal maturation stages, suggesting defective platelet production or release (summary by Pippucci et al., 2011). For a discussion of genetic heterogeneity of thrombocytopenia, see 313900.  http://www.omim.org/entry/188000

Clinical features

From HPO
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Abnormal platelet shape
MedGen UID:
868472
Concept ID:
C4022866
Anatomical Abnormality
A deviation from the normal discoid platelet shape.
Abnormal platelet volume
MedGen UID:
868747
Concept ID:
C4023152
Anatomical Abnormality
Anomalous size of platelets. Most normal sized platelets are 1.5 to 3 micrometers in diameter. Large platelets are 4 to 7 micrometers. Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers.
Increased megakaryocyte colony forming unit count
MedGen UID:
1814116
Concept ID:
C5558381
Finding
Increased numbers of megakryocyte precursors (megakaryocyte colony forming units) in the bone marrow.
Leukocytosis
MedGen UID:
9736
Concept ID:
C0023518
Disease or Syndrome
An abnormal increase in the number of leukocytes in the blood.
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.

Term Hierarchy

Professional guidelines

PubMed

Rahbar K, Essler M, Pabst KM, Eiber M, Fougère C, Prasad V, Rassek P, Hasa E, Dittmann H, Bundschuh RA, Fendler WP, Kurtinecz M, Schmall A, Verholen F, Sartor O
J Nucl Med 2023 Apr;64(4):574-578. Epub 2022 Oct 27 doi: 10.2967/jnumed.122.264456. PMID: 36302656Free PMC Article
Epstein RS, Nelms J, Moran D, Girman C, Huang H, Chioda M
Cancer Treat Res Commun 2022;31:100555. Epub 2022 Apr 4 doi: 10.1016/j.ctarc.2022.100555. PMID: 35421820
Saito Y, Takekuma Y, Shinagawa N, Sugawara M
Support Care Cancer 2022 May;30(5):4081-4088. Epub 2022 Jan 23 doi: 10.1007/s00520-021-06757-x. PMID: 35066667

Recent clinical studies

Etiology

Rahbar K, Essler M, Pabst KM, Eiber M, Fougère C, Prasad V, Rassek P, Hasa E, Dittmann H, Bundschuh RA, Fendler WP, Kurtinecz M, Schmall A, Verholen F, Sartor O
J Nucl Med 2023 Apr;64(4):574-578. Epub 2022 Oct 27 doi: 10.2967/jnumed.122.264456. PMID: 36302656Free PMC Article
Wang X, Chen M, Dai L, Tan C, Hu L, Zhang Y, Xiao Y, Li F, Zeng C, Xiang Z, Wang Y, Zhang W, Zhang X, Ran Q, Li Z, Chen L
Platelets 2022 Apr 3;33(3):443-450. Epub 2021 Jun 8 doi: 10.1080/09537104.2021.1937594. PMID: 34101524
Malik P, Patel U, Mehta D, Patel N, Kelkar R, Akrmah M, Gabrilove JL, Sacks H
BMJ Evid Based Med 2021 Jun;26(3):107-108. Epub 2020 Sep 15 doi: 10.1136/bmjebm-2020-111536. PMID: 32934000Free PMC Article
Turner NC, Ro J, André F, Loi S, Verma S, Iwata H, Harbeck N, Loibl S, Huang Bartlett C, Zhang K, Giorgetti C, Randolph S, Koehler M, Cristofanilli M; PALOMA3 Study Group
N Engl J Med 2015 Jul 16;373(3):209-19. Epub 2015 Jun 1 doi: 10.1056/NEJMoa1505270. PMID: 26030518
Reese JA, Nguyen LP, Buchanan GR, Curtis BR, Terrell DR, Vesely SK, George JN
Pediatr Blood Cancer 2013 Dec;60(12):1975-81. Epub 2013 Aug 30 doi: 10.1002/pbc.24682. PMID: 24038783

Diagnosis

Wang X, Chen M, Dai L, Tan C, Hu L, Zhang Y, Xiao Y, Li F, Zeng C, Xiang Z, Wang Y, Zhang W, Zhang X, Ran Q, Li Z, Chen L
Platelets 2022 Apr 3;33(3):443-450. Epub 2021 Jun 8 doi: 10.1080/09537104.2021.1937594. PMID: 34101524
Malik P, Patel U, Mehta D, Patel N, Kelkar R, Akrmah M, Gabrilove JL, Sacks H
BMJ Evid Based Med 2021 Jun;26(3):107-108. Epub 2020 Sep 15 doi: 10.1136/bmjebm-2020-111536. PMID: 32934000Free PMC Article
Arachchillage DRJ, Laffan M, Khanna S, Vandenbriele C, Kamani F, Passariello M, Rosenberg A, Aw TC, Banya W, Ledot S, Patel BV
Crit Care Med 2020 May;48(5):e371-e379. doi: 10.1097/CCM.0000000000004261. PMID: 32058356
Schifferli A, Holbro A, Chitlur M, Coslovsky M, Imbach P, Donato H, Elalfy M, Graciela E, Grainger J, Holzhauer S, Riccheri C, Rodeghiero F, Ruggeri M, Tamary H, Uglova T, Wu R, Kühne T; Intercontinental Cooperative ITP Study Group (ICIS)
Am J Hematol 2018 Jun;93(6):751-759. Epub 2018 Mar 30 doi: 10.1002/ajh.25086. PMID: 29516627
Curtis BR
Immunohematology 2014;30(2):55-65. PMID: 25247620

Therapy

Rahbar K, Essler M, Pabst KM, Eiber M, Fougère C, Prasad V, Rassek P, Hasa E, Dittmann H, Bundschuh RA, Fendler WP, Kurtinecz M, Schmall A, Verholen F, Sartor O
J Nucl Med 2023 Apr;64(4):574-578. Epub 2022 Oct 27 doi: 10.2967/jnumed.122.264456. PMID: 36302656Free PMC Article
Domínguez Senín L, Borrachero Garro C, Sánchez Gómez E, Santos-Rubio MD
Int J Clin Pharmacol Ther 2022 Jul;60(7):311-316. doi: 10.5414/CP204190. PMID: 35343431
Wang X, Chen M, Dai L, Tan C, Hu L, Zhang Y, Xiao Y, Li F, Zeng C, Xiang Z, Wang Y, Zhang W, Zhang X, Ran Q, Li Z, Chen L
Platelets 2022 Apr 3;33(3):443-450. Epub 2021 Jun 8 doi: 10.1080/09537104.2021.1937594. PMID: 34101524
Malik P, Patel U, Mehta D, Patel N, Kelkar R, Akrmah M, Gabrilove JL, Sacks H
BMJ Evid Based Med 2021 Jun;26(3):107-108. Epub 2020 Sep 15 doi: 10.1136/bmjebm-2020-111536. PMID: 32934000Free PMC Article
Turner NC, Ro J, André F, Loi S, Verma S, Iwata H, Harbeck N, Loibl S, Huang Bartlett C, Zhang K, Giorgetti C, Randolph S, Koehler M, Cristofanilli M; PALOMA3 Study Group
N Engl J Med 2015 Jul 16;373(3):209-19. Epub 2015 Jun 1 doi: 10.1056/NEJMoa1505270. PMID: 26030518

Prognosis

Wang X, Chen M, Dai L, Tan C, Hu L, Zhang Y, Xiao Y, Li F, Zeng C, Xiang Z, Wang Y, Zhang W, Zhang X, Ran Q, Li Z, Chen L
Platelets 2022 Apr 3;33(3):443-450. Epub 2021 Jun 8 doi: 10.1080/09537104.2021.1937594. PMID: 34101524
Malik P, Patel U, Mehta D, Patel N, Kelkar R, Akrmah M, Gabrilove JL, Sacks H
BMJ Evid Based Med 2021 Jun;26(3):107-108. Epub 2020 Sep 15 doi: 10.1136/bmjebm-2020-111536. PMID: 32934000Free PMC Article
Arachchillage DRJ, Laffan M, Khanna S, Vandenbriele C, Kamani F, Passariello M, Rosenberg A, Aw TC, Banya W, Ledot S, Patel BV
Crit Care Med 2020 May;48(5):e371-e379. doi: 10.1097/CCM.0000000000004261. PMID: 32058356
Curtis BR
Immunohematology 2014;30(2):55-65. PMID: 25247620
Bussel JB
J Reprod Immunol 1997 Dec 15;37(1):35-61. doi: 10.1016/s0165-0378(97)00072-7. PMID: 9501289

Clinical prediction guides

Wang X, Chen M, Dai L, Tan C, Hu L, Zhang Y, Xiao Y, Li F, Zeng C, Xiang Z, Wang Y, Zhang W, Zhang X, Ran Q, Li Z, Chen L
Platelets 2022 Apr 3;33(3):443-450. Epub 2021 Jun 8 doi: 10.1080/09537104.2021.1937594. PMID: 34101524
Sánchez van Kammen M, Aguiar de Sousa D, Poli S, Cordonnier C, Heldner MR, van de Munckhof A, Krzywicka K, van Haaps T, Ciccone A, Middeldorp S, Levi MM, Kremer Hovinga JA, Silvis S, Hiltunen S, Mansour M, Arauz A, Barboza MA, Field TS, Tsivgoulis G, Nagel S, Lindgren E, Tatlisumak T, Jood K, Putaala J, Ferro JM, Arnold M, Coutinho JM; Cerebral Venous Sinus Thrombosis With Thrombocytopenia Syndrome Study Group, Sharma AR, Elkady A, Negro A, Günther A, Gutschalk A, Schönenberger S, Buture A, Murphy S, Paiva Nunes A, Tiede A, Puthuppallil Philip A, Mengel A, Medina A, Hellström Vogel Å, Tawa A, Aujayeb A, Casolla B, Buck B, Zanferrari C, Garcia-Esperon C, Vayne C, Legault C, Pfrepper C, Tracol C, Soriano C, Guisado-Alonso D, Bougon D, Zimatore DS, Michalski D, Blacquiere D, Johansson E, Cuadrado-Godia E, De Maistre E, Carrera E, Vuillier F, Bonneville F, Giammello F, Bode FJ, Zimmerman J, d'Onofrio F, Grillo F, Cotton F, Caparros F, Puy L, Maier F, Gulli G, Frisullo G, Polkinghorne G, Franchineau G, Cangür H, Katzberg H, Sibon I, Baharoglu I, Brar J, Payen JF, Burrow J, Fernandes J, Schouten J, Althaus K, Garambois K, Derex L, Humbertjean L, Lebrato Hernandez L, Kellermair L, Morin Martin M, Petruzzellis M, Cotelli M, Dubois MC, Carvalho M, Wittstock M, Miranda M, Skjelland M, Bandettini di Poggio M, Scholz MJ, Raposo N, Kahnis R, Kruyt N, Huet O, Sharma P, Candelaresi P, Reiner P, Vieira R, Acampora R, Kern R, Leker R, Coutts S, Bal S, Sharma SS, Susen S, Cox T, Geeraerts T, Gattringer T, Bartsch T, Kleinig TJ, Dizonno V, Arslan Y
JAMA Neurol 2021 Nov 1;78(11):1314-1323. doi: 10.1001/jamaneurol.2021.3619. PMID: 34581763Free PMC Article
Malik P, Patel U, Mehta D, Patel N, Kelkar R, Akrmah M, Gabrilove JL, Sacks H
BMJ Evid Based Med 2021 Jun;26(3):107-108. Epub 2020 Sep 15 doi: 10.1136/bmjebm-2020-111536. PMID: 32934000Free PMC Article
Arachchillage DRJ, Laffan M, Khanna S, Vandenbriele C, Kamani F, Passariello M, Rosenberg A, Aw TC, Banya W, Ledot S, Patel BV
Crit Care Med 2020 May;48(5):e371-e379. doi: 10.1097/CCM.0000000000004261. PMID: 32058356
Schifferli A, Holbro A, Chitlur M, Coslovsky M, Imbach P, Donato H, Elalfy M, Graciela E, Grainger J, Holzhauer S, Riccheri C, Rodeghiero F, Ruggeri M, Tamary H, Uglova T, Wu R, Kühne T; Intercontinental Cooperative ITP Study Group (ICIS)
Am J Hematol 2018 Jun;93(6):751-759. Epub 2018 Mar 30 doi: 10.1002/ajh.25086. PMID: 29516627

Recent systematic reviews

Bai N, Niu Y, Ma Y, Shang YS, Zhong PY, Wang ZL
J Interv Cardiol 2022;2022:3911414. Epub 2022 May 29 doi: 10.1155/2022/3911414. PMID: 35685429Free PMC Article
Chen X, Feng L, Yao H, Yang L, Qin Y
PLoS One 2021;16(2):e0246463. Epub 2021 Feb 11 doi: 10.1371/journal.pone.0246463. PMID: 33571197Free PMC Article
Malik P, Patel U, Mehta D, Patel N, Kelkar R, Akrmah M, Gabrilove JL, Sacks H
BMJ Evid Based Med 2021 Jun;26(3):107-108. Epub 2020 Sep 15 doi: 10.1136/bmjebm-2020-111536. PMID: 32934000Free PMC Article
Hung A, Mullins CD
Oncologist 2013;18(1):54-63. Epub 2013 Jan 8 doi: 10.1634/theoncologist.2012-0050. PMID: 23299774Free PMC Article

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