WebSite Logo
  • Content
  • Similar Resources
  • Metadata
  • Cite This
  • Log-in
  • Fullscreen
Log-in
Do not have an account? Register Now
Forgot your password? Account recovery
  1. BMC Medical Genomics
  2. Volume 13
  3. Issue 8
  4. Multiple paragangliomas: a case report
Loading...

Please wait, while we are loading the content...

Volume 18
Volume 17
Volume 16
Volume 15
Volume 14
Volume 13
Issue 11
Issue 10
Issue 9
Issue 8
A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region
Cancer gene expression profiles associated with clinical outcomes to chemotherapy treatments
Genome scale analysis of pathogenic variants targetable for single base editing
Medical genomics at the Systems Biology and Bioinformatics (SBB-2019) school
Multiple paragangliomas: a case report
Mutation profiling in eight cases of vagal paragangliomas
miRNAs expression signature potentially associated with lymphatic dissemination in locally advanced prostate cancer
Issue 7
Issue 6
Issue 5
Issue 4
Issue 3
Issue 1
Volume 12
Volume 11
Volume 10
Volume 9
Volume 8
Volume 7
Volume 6
Volume 5
Volume 4
Volume 3
Volume 2
Volume 1

Similar Documents

...
Mutation profiling in eight cases of vagal paragangliomas

Article

...
Exome analysis of carotid body tumor

Article

...
Mutational load in carotid body tumor

Article

...
Immunohistochemistry and Mutation Analysis of SDHx Genes in Carotid Paragangliomas

Article

...
Early contribution of germline and nevi genetic alterations to a rapidly-progressing cutaneous melanoma patient: a case report

Case study

...
Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report

Case study

...
Patient with multiple acyl-CoA dehydrogenase deficiency disease and ETFDH mutations benefits from riboflavin therapy: a case report

Case study

...
Mutation Frequency in Main Susceptibility Genes Among Patients With Head and Neck Paragangliomas

Article

...
Whole Exome Sequencing of Pediatric Gastric Adenocarcinoma: A Germline and Somatic Mutation Analysis

Thesis

Multiple paragangliomas: a case report

Content Provider Springer Nature : BioMed Central
Author Pavlov, Vladislav S. Kalinin, Dmitry V. Lukyanova, Elena N. Golovyuk, Alexander L. Fedorova, Maria S. Pudova, Elena A. Savvateeva, Maria V. Lipatova, Anastasiya V. Guvatova, Zulfiya G. Kaprin, Andrey D. Kiseleva, Marina V. Demidova, Tatiana B. Simanovsky, Sergey A. Melnikova, Nataliya V. Dmitriev, Alexey A. Krasnov, George S. Snezhkina, Anastasiya V. Kudryavtseva, Anna V.
Abstract Background Carotid and vagal paragangliomas (CPGLs and VPGLs) are rare neoplasms that arise from the paraganglia located at the bifurcation of carotid arteries and vagal trunk, respectively. Both tumors can occur jointly as multiple paragangliomas accounting for approximately 10 to 20% of all head and neck paragangliomas. However, molecular and genetic mechanisms underlying the pathogenesis of multiple paragangliomas remain elusive. Case presentation We report a case of multiple paragangliomas in a patient, manifesting as bilateral CPGL and unilateral VPGL. Tumors were revealed via computed tomography and ultrasound study and were resected in two subsequent surgeries. Both CPGLs and VPGL were subjected to immunostaining for succinate dehydrogenase (SDH) subunits and exome analysis. A likely pathogenic germline variant in the SDHD gene was indicated, while likely pathogenic somatic variants differed among the tumors. Conclusions The identified germline variant in the SDHD gene seems to be a driver in the development of multiple paragangliomas. However, different spectra of somatic variants identified in each tumor indicate individual molecular mechanisms underlying their pathogenesis.
Related Links https://bmcmedgenomics.biomedcentral.com/counter/pdf/10.1186/s12920-020-00789-8.pdf
Ending Page 6
Page Count 6
Starting Page 1
File Format HTM / HTML
ISSN 17558794
DOI 10.1186/s12920-020-00789-8
Journal BMC Medical Genomics
Issue Number 8
Volume Number 13
Language English
Publisher BioMed Central
Publisher Date 2020-09-18
Access Restriction Open
Subject Keyword Human Genetics Microarrays Gene Expression SDHx Multiple paragangliomas Carotid and vagal paragangliomas Germline and somatic mutations High-throughput exome sequencing Immunohistochemistry Case report
Content Type Text
Resource Type Case study
Subject Genetics (clinical) Genetics
Journal Impact Factor 2.1/2023
5-Year Journal Impact Factor 2.5/2023
  • About
  • Disclaimer
  • Feedback
  • Sponsor
  • Contact
  • Chat with Us
About National Digital Library of India (NDLI)
NDLI logo

National Digital Library of India (NDLI) is a virtual repository of learning resources which is not just a repository with search/browse facilities but provides a host of services for the learner community. It is sponsored and mentored by Ministry of Education, Government of India, through its National Mission on Education through Information and Communication Technology (NMEICT). Filtered and federated searching is employed to facilitate focused searching so that learners can find the right resource with least effort and in minimum time. NDLI provides user group-specific services such as Examination Preparatory for School and College students and job aspirants. Services for Researchers and general learners are also provided. NDLI is designed to hold content of any language and provides interface support for 10 most widely used Indian languages. It is built to provide support for all academic levels including researchers and life-long learners, all disciplines, all popular forms of access devices and differently-abled learners. It is designed to enable people to learn and prepare from best practices from all over the world and to facilitate researchers to perform inter-linked exploration from multiple sources. It is developed, operated and maintained from Indian Institute of Technology Kharagpur.

Learn more about this project from here.

Disclaimer

NDLI is a conglomeration of freely available or institutionally contributed or donated or publisher managed contents. Almost all these contents are hosted and accessed from respective sources. The responsibility for authenticity, relevance, completeness, accuracy, reliability and suitability of these contents rests with the respective organization and NDLI has no responsibility or liability for these. Every effort is made to keep the NDLI portal up and running smoothly unless there are some unavoidable technical issues.

Feedback

Sponsor

Ministry of Education, through its National Mission on Education through Information and Communication Technology (NMEICT), has sponsored and funded the National Digital Library of India (NDLI) project.

Contact National Digital Library of India
Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302
See location in the Map
03222 282435
Mail: support@ndl.gov.in
Sl. Authority Responsibilities Communication Details
1 Ministry of Education (GoI),
Department of Higher Education
Sanctioning Authority https://www.education.gov.in/ict-initiatives
2 Indian Institute of Technology Kharagpur Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project https://www.iitkgp.ac.in
3 National Digital Library of India Office, Indian Institute of Technology Kharagpur The administrative and infrastructural headquarters of the project Dr. B. Sutradhar  bsutra@ndl.gov.in
4 Project PI / Joint PI Principal Investigator and Joint Principal Investigators of the project Dr. B. Sutradhar  bsutra@ndl.gov.in
Prof. Saswat Chakrabarti  will be added soon
5 Website/Portal (Helpdesk) Queries regarding NDLI and its services support@ndl.gov.in
6 Contents and Copyright Issues Queries related to content curation and copyright issues content@ndl.gov.in
7 National Digital Library of India Club (NDLI Club) Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach clubsupport@ndl.gov.in
8 Digital Preservation Centre (DPC) Assistance with digitizing and archiving copyright-free printed books dpc@ndl.gov.in
9 IDR Setup or Support Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops idr@ndl.gov.in
I will try my best to help you...
Cite this Content
Loading...