ATRX
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Alpha thalassemia/mental retardation syndrome X-linked, often abbreviated ATRX is expressed in the nucleus and lost in some tumor types that use alternative lengthening of telomeres (ALT) as their telomere maintenance mechanism. The protein regulates the nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Since nuclear staining is lost only in some specfic tumors outlined below, the antibody is a diagnostic biomarker.
Nuclear ATRX loss in astrocytoma.
Positive staining
- Nucleus of normal cells and most tumor types except those shown below:
Negative staining
- IDH-1 mutated astrocytoma [1]
- oligoastrocytoma and oligodendroglioma with non-canonical molecular profile [2]
- pleomorphic and dedifferentiated liposarcoma [3]
- pancreatic neuroendorcrine tumors (pNET) [4]
- leiomyosarcoma [5]
See also
References
- ↑ Liu, XY.; Gerges, N.; Korshunov, A.; Sabha, N.; Khuong-Quang, DA.; Fontebasso, AM.; Fleming, A.; Hadjadj, D. et al. (Nov 2012). "Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations.". Acta Neuropathol 124 (5): 615-25. doi:10.1007/s00401-012-1031-3. PMID 22886134.
- ↑ Sahm, F.; Reuss, D.; Koelsche, C.; Capper, D.; Schittenhelm, J.; Heim, S.; Jones, DT.; Pfister, SM. et al. (Oct 2014). "Farewell to oligoastrocytoma: in situ molecular genetics favor classification as either oligodendroglioma or astrocytoma.". Acta Neuropathol 128 (4): 551-9. doi:10.1007/s00401-014-1326-7. PMID 25143301.
- ↑ Lee, JC.; Jeng, YM.; Liau, JY.; Tsai, JH.; Hsu, HH.; Yang, CY. (Aug 2015). "Alternative lengthening of telomeres and loss of ATRX are frequent events in pleomorphic and dedifferentiated liposarcomas.". Mod Pathol 28 (8): 1064-73. doi:10.1038/modpathol.2015.67. PMID 26022452.
- ↑ Marinoni, I.; Kurrer, AS.; Vassella, E.; Dettmer, M.; Rudolph, T.; Banz, V.; Hunger, F.; Pasquinelli, S. et al. (Feb 2014). "Loss of DAXX and ATRX are associated with chromosome instability and reduced survival of patients with pancreatic neuroendocrine tumors.". Gastroenterology 146 (2): 453-60.e5. doi:10.1053/j.gastro.2013.10.020. PMID 24148618.
- ↑ Liau, JY.; Tsai, JH.; Jeng, YM.; Lee, JC.; Hsu, HH.; Yang, CY. (Feb 2015). "Leiomyosarcoma with alternative lengthening of telomeres is associated with aggressive histologic features, loss of ATRX expression, and poor clinical outcome.". Am J Surg Pathol 39 (2): 236-44. doi:10.1097/PAS.0000000000000324. PMID 25229770.