Different clinical conditions of immunodeficiency and leukemic transformation were described recently. These are being associated with GATA-2 mutations. This is emerging as a new and interesting syndrome. This is a review of this condition.
| Published in | Cancer Research Journal (Volume 2, Issue 4) |
| DOI | 10.11648/j.crj.20140204.12 |
| Page(s) | 70-73 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2014. Published by Science Publishing Group |
GATA-2, MonoMAC Syndrome, Emberger Syndrome, DCML Deficiency Syndrome, Familial MDS, Myelodysplastic Syndrome
| [1] | Zheng R, Blobel GA. GATA Transcription Factors and Cancer. Genes Cancer. 2010 Dec;1(12):1178–88. |
| [2] | Orkin SH. GATA-binding transcription factors in hematopoietic cells. Blood. 1992 Aug 1;80(3):575–81. |
| [3] | Simon MC. Gotta have GATA. Nat Genet. 1995 Sep;11(1):9–11. |
| [4] | Rodrigues NP, Janzen V, Forkert R, Dombkowski DM, Boyd AS, Orkin SH, et al. Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis. Blood. 2005 Jul 15;106(2):477–84. |
| [5] | Shivdasani RA, Orkin SH. The transcriptional control of hematopoiesis [see comments]. Blood. 1996 May 15;87(10):4025–39. |
| [6] | Vicente C, Vazquez I, Conchillo A, García-Sánchez MA, Marcotegui N, Fuster O, et al. Overexpression of GATA2 predicts an adverse prognosis for patients with acute myeloid leukemia and it is associated with distinct molecular abnormalities. Leukemia. 2012 Mar;26(3):550–4. |
| [7] | Zhang S-J, Ma L-Y, Huang Q-H, Li G, Gu B-W, Gao X-D, et al. Gain-of-function mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia. Proc Natl Acad Sci U S A. 2008 Feb 12;105(6):2076–81. |
| [8] | Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood. 2011 Sep 8;118(10):2653–5. |
| [9] | Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet. 2011 Oct;43(10):929–31. |
| [10] | Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood. 2011 Sep 8;118(10):2656–8. |
| [11] | Hahn CN, Chong C-E, Carmichael CL, Wilkins EJ, Brautigan PJ, Li X-C, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet. 2011 Oct;43(10):1012–7. |
| [12] | Vinh DC, Patel SY, Uzel G, Anderson VL, Freeman AF, Olivier KN, et al. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood. 2010 Feb 25;115(8):1519–29. |
| [13] | Calvo KR, Vinh DC, Maric I, Wang W, Noel P, Stetler-Stevenson M, et al. Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications. Haematologica. 2011 Aug 1;96(8):1221–5. |
| [14] | Zonios DI, Falloon J, Bennett JE, Shaw PA, Chaitt D, Baseler MW, et al. Idiopathic CD4+ lymphocytopenia: natural history and prognostic factors. Blood. 2008 Jul 15;112(2):287–94. |
| [15] | Ishida H, Imai K, Honma K, Tamura S-I, Imamura T, Ito M, et al. GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia. Eur J Pediatr. 2012 Aug;171(8):1273–6. |
| [16] | Emberger JM, Navarro M, Dejean M, Izarn P. [Deaf-mutism, lymphedema of the lower limbs and hematological abnormalities (acute leukemia, cytopenia) with autosomal dominant transmission]. J Génétique Hum. 1979 Oct;27(3):237–45. |
| [17] | Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, et al. Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Am J Med Genet A. 2010 Sep;152A(9):2287–96. |
| [18] | Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, et al. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood. 2012 Feb 2;119(5):1283–91. |
| [19] | Haugas M, Lilleväli K, Hakanen J, Salminen M. Gata2 is required for the development of inner ear semicircular ducts and the surrounding perilymphatic space. Dev Dyn Off Publ Am Assoc Anat. 2010 Sep;239(9):2452–69. |
| [20] | Ishida H, Imai K, Honma K, Tamura S-I, Imamura T, Ito M, et al. GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia. Eur J Pediatr. 2012 Aug;171(8):1273–6. |
| [21] | Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014 Feb 6;123(6):809–21. |
| [22] | Bigley V, Collin M. Dendritic cell, monocyte, B and NK lymphoid deficiency defines the lost lineages of a new GATA-2 dependent myelodysplastic syndrome. Haematologica. 2011 Aug 1;96(8):1081–3. |
| [23] | Camargo JF, Lobo SA, Hsu AP, Zerbe CS, Wormser GP, Holland SM. MonoMAC Syndrome in a Patient With a GATA2 Mutation: Case Report and Review of the Literature. Clin Infect Dis. 2013 Sep 1;57(5):697–9. |
APA Style
Lalit Raut. (2014). GATA-2 Mutation: An Emerging Syndrome. Cancer Research Journal, 2(4), 70-73. https://doi.org/10.11648/j.crj.20140204.12
ACS Style
Lalit Raut. GATA-2 Mutation: An Emerging Syndrome. Cancer Res. J. 2014, 2(4), 70-73. doi: 10.11648/j.crj.20140204.12
AMA Style
Lalit Raut. GATA-2 Mutation: An Emerging Syndrome. Cancer Res J. 2014;2(4):70-73. doi: 10.11648/j.crj.20140204.12
Share This Article
Twitter
Linked In
Facebook
Copy
Download@article{10.11648/j.crj.20140204.12,
author = {Lalit Raut},
title = {GATA-2 Mutation: An Emerging Syndrome},
journal = {Cancer Research Journal},
volume = {2},
number = {4},
pages = {70-73},
doi = {10.11648/j.crj.20140204.12},
url = {https://doi.org/10.11648/j.crj.20140204.12},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.crj.20140204.12},
abstract = {Different clinical conditions of immunodeficiency and leukemic transformation were described recently. These are being associated with GATA-2 mutations. This is emerging as a new and interesting syndrome. This is a review of this condition.},
year = {2014}
}
TY - JOUR T1 - GATA-2 Mutation: An Emerging Syndrome AU - Lalit Raut Y1 - 2014/07/20 PY - 2014 N1 - https://doi.org/10.11648/j.crj.20140204.12 DO - 10.11648/j.crj.20140204.12 T2 - Cancer Research Journal JF - Cancer Research Journal JO - Cancer Research Journal SP - 70 EP - 73 PB - Science Publishing Group SN - 2330-8214 UR - https://doi.org/10.11648/j.crj.20140204.12 AB - Different clinical conditions of immunodeficiency and leukemic transformation were described recently. These are being associated with GATA-2 mutations. This is emerging as a new and interesting syndrome. This is a review of this condition. VL - 2 IS - 4 ER -
Email: