CDKN2A/B Homozygous Deletions in Astrocytomas: A Literature Review

نویسندگان

چکیده

Genomic alterations of CDKN2A and CDKN2B in astrocytomas have been an evolving area study for decades. Most recently, there has considerable interest the effect and/or (CDKN2A/B) homozygous deletions (HD) on prognosis isocitrate dehydrogenase (IDH)-mutant astrocytomas. This is highlighted by adoption CDKN2A/B HD as essential criterion astrocytoma IDH-mutant central nervous system (CNS) WHO grade 4 fifth edition World Health Organisation (WHO) Classification Central Nervous System Tumours (2021). The genes are located short arm chromosome 9. encodes two proteins, p14 p16, p15. These proteins regulate cell growth angiogenesis. Interpreting impact complicated recent changes tumour classification a lack uniform standards testing CDKN2A/B. While prognostic established, role different alterations—heterozygous (HeD), point mutations, promoter methylation—is less clear. Consequently, how these alternations should be incorporated into patient management remains controversial. To this end, we reviewed literature their diagnosis management. We also provided historical review changing glioma evolved over time. Through context, demonstrate that important negative marker astrocytomas; however, data challenging to interpret given time, variation quality evidence, variations techniques used identify deletions. Therefore, future prospective studies using detection required improve clinical interpretation molecular marker.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Homozygous deletions of the multiple tumor suppressor gene 1 in the progression of human astrocytomas.

The multiple tumor suppressor gene 1 (MTS1) located on chromosome 9p has recently been implicated as a candidate tumor suppressor gene in many different tumor types. Cytogenetic analysis and deletion mapping studies have revealed that deletion of chromosome 9p occurs in a significant number of primary human astrocytomas. Using multiplex PCR with primers for exon 2 of MTS1 and for D9S196 from ch...

متن کامل

A survey of homozygous deletions in human cancer genomes.

Homozygous deletions of recessive cancer genes and fragile sites are known to occur in human cancers. We identified 281 homozygous deletions in 636 cancer cell lines. Of these deletions, 86 were homozygous deletions of known recessive cancer genes, 17 were of sequenced common fragile sites, and 178 were in genomic regions that do not overlap known recessive oncogenes or fragile sites ("unexplai...

متن کامل

Hemorrhagic Pilocytic Astrocytomas in Adults: A Case Report and Literature Review

Pilocytic astrocytomas are histologically benign tumors, generally found in the pediatric population. Onset of symptoms is generally insidious, predominantly stemming from mass effect upon nearby structures. Patients harboring a pilocytic astrocytoma may present with gait disturbance, headaches, cranial nerve deficits, as well as hydrocephalus, depending on the exact location. Although cases of...

متن کامل

Expression of estrogen and progesterone receptors in astrocytomas: a literature review

Gliomas are the most common type of primary central nervous system neoplasm. Astrocytomas are the most prevalent type of glioma and these tumors may be influenced by sex steroid hormones. A literature review for the presence of estrogen and progesterone receptors in astrocytomas was conducted in the PubMed database using the following MeSH terms: "estrogen receptor beta" OR "estrogen receptor a...

متن کامل

RAPID COMMUNICATION p16 Gene Homozygous Deletions in Acute Lymphoblastic Leukemia

The p16 protein is a cyclin inhibitor encoded by a gene located in 9p21, which may have antioncogenic properties, and is inactivated by homozygous p16 gene deletion or, less often, point mutation in several types of solid tumors often associated t o cytogenetic evidence of 9p21 deletion. We looked for homozygous deletion and point mutation of the p16 gene in acute lymphoblastic leukemia (ALL), ...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Current Issues in Molecular Biology

سال: 2023

ISSN: ['1467-3037', '1467-3045']

DOI: https://doi.org/10.3390/cimb45070335