Chromosome 1 [Neurosurgery Wiki]

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====== Chromosome 1 ======

{{rss>https://pubmed.ncbi.nlm.nih.gov/rss/search/1VIh-1Z3_W7RXCSMgZNBYC2NVjhEpFI0c2_-XWaUhYNnZcwM0Y/?limit=15&utm_campaign=pubmed-2&fc=20230104065040}}

The molecular hallmark feature of [[oligodendroglioma]] is [[codeletion]] of the short arm of [[chromosome]] 1 (1p) and the long arm of [[chromosome 19]] (19q)
((Jenkins RB, Blair H, Ballman KV, Giannini C, Arusell RM, Law M, Flynn H, Passe
S, Felten S, Brown PD, Shaw EG, Buckner JC. A t(1;19)(q10;p10) mediates the
combined deletions of 1p and 19q and predicts a better prognosis of patients with
oligodendroglioma. Cancer Res. 2006 Oct 15;66(20):9852-61. PubMed PMID: 17047046.
)),
which is present in about 60–90% of histopathologically diagnosed [[oligodendroglioma]]
((van den Bent MJ. Anaplastic oligodendroglioma and oligoastrocytoma. Neurol
Clin. 2007 Nov;25(4):1089-109, ix-x. Review. PubMed PMID: 17964027.
)).

Complete [[deletion]] of both the short arm of [[chromosome 1]] (1p) and the long arm of [[chromosome 19]] ([[19q]]) is pathognomonic for [[oligodendroglioma]]
((Louis DN, Perry A, Reifenberger G, et al. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a sum- mary. Acta Neuropathol. 2016; 131:803–820))
((Stupp R, Brada M, van den Bent MJ, et al. High- grade glioma: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2014; 25 Suppl 3:iii93–ii101))
It is strongly associated with [[IDH mutation]] and is mutually exclusive of [[ATRX]] & [[TP53]] [[mutation]]s.
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===== 1q =====
The long arm of [[Chromosome 1]].
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NOTCH2NLC is 1 of 3 nearly identical, functional human [[NOTCH2]] (600275)-like genes on [[chromosome 1]]q21.1 The [[NOTCH2]]L proteins appear to regulate [[Notch signaling pathway]] and promote cortical [[neurogenesis]].
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1q21.1 microdeletion is a chromosomal change in which a small piece of [[chromosome 1]] is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated feature