TERT Promoter Mutations and Telomerase in Melanoma

Guo, Yuchen; Chen, Yi; Zhang, Lianghui; Ma, Ling; Jiang, Keyu; Yao, Gang; Zhu, Lingjun

doi:10.1155/2022/6300329

Cited by 23 publications

(18 citation statements)

References 74 publications

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“…Retained H3 K27 trimethylation has been reported in MPNSTs occurring in a spinal location. 33 Although TERT promoter mutations are commonly seen in IDH wild-type GBMs, they can also be encountered in many other neoplasms, including meningioma, 34 pleomorphic xanthoastrocytoma, 35 oligodendroglioma IDH-mutant and 1p/19q-codeleted, 36 melanoma, 37 and rare examples of MPNST. 38 Thus, the identification of a TERT promoter mutation alone is not diagnostic of GBM without accompanying evidence.…”

Section: Discussionmentioning

confidence: 99%

A rare case of atypical intradural extramedullary glioblastoma diagnosed utilizing next-generation sequencing and methylation profiling: illustrative case

Shelton,

Mathews,

Aljiboori

et al. 2024

Journal of Neurosurgery: Case Lessons

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BACKGROUND Primary spinal cord tumors, especially primary spinal cord glioblastoma multiforme (PSC-GBM), are exceptionally rare, accounting for less than 1.5% of all spinal tumors. Their infrequency and aggressive yet atypical presentation make diagnosis challenging. In uncertain cases, a surgical approach for tissue diagnosis is often optimal. OBSERVATIONS A 76-year-old male presented with a rapidly progressing clinical history marked by worsening extremity weakness, urinary retention, and periodic fecal incontinence alongside diffuse changes on neuraxis imaging. The patient, in whom subacute polyneuropathy was initially diagnosed, received multiple rounds of steroids and intravenous immunoglobulin without clinical improvement. Histopathological review of the biopsy tissue yielded an initial diagnosis of spindle cell neoplasm. Next-generation sequencing (NGS) is done routinely on all neuropathology specimens at the authors’ institution, and methylation profiling is pursued in difficult cases. Ultimately, NGS and methylation profiling results were essential to an integrated final diagnosis of GBM. LESSONS PSC-GBM is a rare but highly aggressive occurrence of this tumor. Prolonged back pain, rapid neurological decline, and imaging changes warrant the consideration of lesional biopsy for precise disease characterization. In inconclusive cases, NGS has proved invaluable for clinical clarification and diagnosis, underscoring its importance for integrated diagnoses in guiding appropriate treatment strategies.

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Section: Discussionmentioning

confidence: 99%

A rare case of atypical intradural extramedullary glioblastoma diagnosed utilizing next-generation sequencing and methylation profiling: illustrative case

Shelton,

Mathews,

Aljiboori

et al. 2024

Journal of Neurosurgery: Case Lessons

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“…The TERT-promoter mutations upregulate telomerase activity, allowing cancer cells to survive, and prior studies have shown TERT-mutant melanomas to have earlier recurrence and progression, as well as resistance to treatment. 29 , 30 …”

Section: Discussionmentioning

confidence: 99%

Factors Affecting Recurrence and Survival for Patients with High-Risk Stage II Melanoma

Dedeilia,

Lwin,

et al. 2023

Ann Surg Oncol

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Background In the current era of effective adjuvant therapies and de-escalation of surgery, distinguishing which patients with high-risk stage II melanoma are at increased risk of recurrence after excision of the primary lesion is essential to determining appropriate treatment and surveillance plans. Methods A single-center retrospective study analyzed patients with stage IIB or IIC melanoma. Demographic and tumor data were collected, and genomic analysis of formalin-fixed, paraffin-embedded tissue samples was performed via an internal next-generation sequencing (NGS) platform (SNaPshot). The end points examined were relapse-free survival (RFS), distant metastasis-free survival (DMFS), overall survival (OS), and melanoma-specific survival (MSS). Uni- and multivariable Cox regressions were performed to calculate the hazard ratios. Results The study included 92 patients with a median age of 69 years and a male/female ratio of 2:1. A Breslow depth greater than 4 mm, a higher mitotic rate, an advanced T stage, and a KIT mutation had a negative impact on RFS. A primary lesion in the head and neck, a mitotic rate exceeding 10 mitoses per mm2, a CDH1 mutation, or a KIT mutation was significantly associated with a shorter DMFS. Overall survival was significantly lower with older age at diagnosis and a higher mitotic rate. An older age at diagnosis also had a negative impact on MSS. Conclusion Traditional histopathologic factors and specific tumor mutations displayed a significant correlation with disease recurrence and survival for patients with high-risk stage II melanoma. This study supported the use of genomic testing of high-risk stage II melanomas for prognostic prediction and risk stratification.

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“…Alteration in the TERT gene includes genomic gains/amplifications, promoter rearrangements, and "hotspot" promoter mutations at a position relative to the transcription start site [39]. These alterations have been reported in multiple cancer types, especially TERT promoter mutations, which are associated with increased TERT expression [20,21,[40][41][42]. In a pan-cancer study of somatic TERT promoter mutations and amplification, Sounak et al found that among 30,733 specimens, almost 11.3% of cases with TERT promoter mutation were accompanied by 2.3% TERT amplification and 86.3% with no TERT amplification or promoter mutation [40].…”

Section: Effects On Tert In Cancer Formation Transcriptional Regulationmentioning

confidence: 99%

The regulations of telomerase reverse transcriptase (TERT) in cancer

Liu,

Zhang,

Jian

et al. 2024

Cell Death Dis

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Abnormal activation of telomerase occurs in most cancer types, which facilitates escaping from cell senescence. As the key component of telomerase, telomerase reverse transcriptase (TERT) is regulated by various regulation pathways. TERT gene changing in its promoter and phosphorylation respectively leads to TERT ectopic expression at the transcription and protein levels. The co-interacting factors play an important role in the regulation of TERT in different cancer types. In this review, we focus on the regulators of TERT and these downstream functions in cancer regulation. Determining the specific regulatory mechanism will help to facilitate the development of a cancer treatment strategy that targets telomerase and cancer cell senescence.

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TERT Promoter Mutations and Telomerase in Melanoma

Cited by 23 publications

References 74 publications

A rare case of atypical intradural extramedullary glioblastoma diagnosed utilizing next-generation sequencing and methylation profiling: illustrative case

A rare case of atypical intradural extramedullary glioblastoma diagnosed utilizing next-generation sequencing and methylation profiling: illustrative case

Factors Affecting Recurrence and Survival for Patients with High-Risk Stage II Melanoma

The regulations of telomerase reverse transcriptase (TERT) in cancer

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