Multiple paragangliomas: a case report

Pavlov, Vladislav; Kalinin, D. V.; Lukyanova, E. N.; Golovyuk, Alexander L.; Fedorova, Maria S.; Pudova, Elena A.; Савватеева, М. В.; Lipatova, Anastasiya V.; Guvatova, Zulfiya G.; Каприн, А. Д.; Kiseleva, Marina V.; Демидова, Т. Б.; Simanovsky, Sergey A.; Melnikova, Nataliya V.; Dmitriev, Alexey A.; Krasnov, George S.; Snezhkina, Anastasiya V.; Kudryavtseva, Anna V.

doi:10.1186/s12920-020-00789-8

Cited by 7 publications

(2 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We conclude this special journal issue by the multiple paraganglioma cases report compiled by Vladislav Pavlov et al [21] (this issue). The authors report a case of multiple paragangliomas, manifesting as bilateral carotid and vagal paragangliomas.…”

mentioning

confidence: 69%

Medical genomics at the Systems Biology and Bioinformatics (SBB-2019) school

et al. 2020

View full text Add to dashboard Cite

Next-Generation Sequencing-driven analysis and Systems Biology approaches commonly serve as a backdrop for a study of a tumor genome. This issue of BMC Medical Genomics SBB-2019 ("Systems Biology and Bioinformatics") presents recent works discussed at the 11th Young Scientists School "Systems Biology and Bioinformatics"-2019, held in Novosibirsk, Russia (http://conf.bionet.nsc.ru/sbb2 019/en/). Here we collated some cancer gene expression studies, some mutation profiling studies as well as some insightful case reports. The SBB school series on bioinformatics proceeds annually since 2008 under the joint steerage of the Institute of Cytology and Genetics of the Siberian Branch of the Russian Academy of Sciences and Novosibirsk State University [1, 2]. We had publications in special topic issues after the Schools before in BMC Genomics, BMC Medical Genomics and related BioMed Central family journals since 2014 [3-5]. The SBB Schools in Novosibirsk were initially conceived as satellite event for young scientists held at the same time as BGRS\SB (Bioinformatics of Genome Regulation and Structure \ Systems Biology) conference series, since 1998 taking place biannually. The recent BGRS\SB-2020 event in Novosibirsk was over at the time of the current journal issue publication (https://bgrssb.icgbio.ru/2020/). Other special issues (Supplements) to the BMC journals in the fields of genomics, genetics, bioinformatics, and medical genetics are published at BMC Genomics, BMC Genetics and three other BMC journals. The BGRS\SB-2018 conference highlights were published in 2018 [5-7], and continued the BMC Medical

show abstract

mentioning

confidence: 69%

Medical genomics at the Systems Biology and Bioinformatics (SBB-2019) school

et al. 2020

View full text Add to dashboard Cite

show abstract

“…However, Petri et al reported opposite results; it was shown that despite the loss of the p53 locus on 17p in many benign and metastasizing PHEOs, no mutations or rare positive nuclear protein immunostaining were identified in association with metastatic disease [96]. Several cases reported TP53 mutations occurring together with pathogenic variants in other susceptibility genes in a multiple HNPGL (TP53 and SDHD) [98] and a metastasizing PHEO (TP53 and SDHB) [99]. In addition, a recent study revealed an antitumor effect of wild-type TP53 upregulation in PC12 cells through the induction of cell cycle arrest and apoptosis [100].…”

Section: Mutations and Dna Methylationmentioning

confidence: 99%

Potential Biomarkers of Metastasizing Paragangliomas and Pheochromocytomas

Snezhkina

Pavlov

Dmitriev

et al. 2021

Life

Self Cite

View full text Add to dashboard Cite

Paragangliomas and pheochromocytomas (PPGLs) are rare neuroendocrine tumors originating from paraganglionic tissue in many sites of the body. Most PPGLs are characterized by nonaggressive behavior but all of them have the potential to metastasize. PPGLs represent a great diagnostic dilemma as it is difficult to recognize tumors that are likely to be metastasizing; criteria of malignancy can be found both in benign and metastatic forms. This review aims to analyze the current knowledge of the nature of metastasizing PPGLs paying particular attention to head and neck paragangliomas (HNPGLs). Potential predictors of the malignancy risk for PPGLs were summarized and discussed. These data may also help in the development of diagnostic and prognostic strategies, as well as in the identification of novel potential therapeutic targets for patients with PPGLs.

show abstract

Somatic Mutation Profiling in Head and Neck Paragangliomas

Савватеева

Kudryavtseva

Lukyanova

et al. 2022

The Journal of Clinical Endocrinology &Amp; Metabolism

Self Cite

View full text Add to dashboard Cite

Context Head and neck paragangliomas (HNPGLs) are rare neoplasms with a high degree of heritability. Nevertheless, paragangliomas present as polygenic diseases caused by combined alterations in multiple genes, however, many driver changes remain unknown. Objective The objective of the study was to analyze somatic mutation profiles in HNPGLs. Design Whole-exome sequencing of 42 tumors and matched normal tissues obtained from Russian patients with HNPGLs was carried out. Somatic mutation profiling included variant calling and utilizing of MutSig and SigProfiler packages. Results 57% of patients harbored germline and somatic variants in the PGL susceptibility genes or potentially related genes. Somatic variants in novel genes were found in 17% of patients without mutations in any known PGL-related genes. The studied cohort was characterized by six significantly mutated genes: SDHD, BCAS4, SLC25A14, RBM3, TP53, and ASCC1, as well as four COSMIC SBS-96 mutational signatures (SBS5, SBS29, SBS1, and SBS7b). Tumors with germline variants specifically displayed SBS11 and SBS19, when SBS33 specific mutational signature was identified for cases without those. B allele frequency analysis of copy number variations revealed loss of heterozygosity of the wild-type allele in one patient with germline mutation c.287-2A>G in the SDHB gene. In patients with germline mutation c.A305G in the SDHD gene, frequent potential loss of chromosome 11 was observed. Conclusion These results give an understanding of somatic changes and the mutational landscape associated with HNPGLs and are important for the identification of molecular mechanisms involved in tumor development.

show abstract

Multiple paragangliomas: a case report

Cited by 7 publications

References 30 publications

Medical genomics at the Systems Biology and Bioinformatics (SBB-2019) school

Medical genomics at the Systems Biology and Bioinformatics (SBB-2019) school

Potential Biomarkers of Metastasizing Paragangliomas and Pheochromocytomas

Somatic Mutation Profiling in Head and Neck Paragangliomas

Contact Info

Product

Resources

About