Somatic mutation landscape of a meningioma and its pulmonary metastasis

Cancer Communications
Yaran DuJian Chen

Abstract

Extracranial metastasis (ENM) of meningiomas is extremely rare, and typically occurs several years after a primary tumor is diagnosed. However, the genetic changes underlying ENM events have not yet been investigated. A 58-year-old male patient was sent to the emergency room of our hospital because of a sudden fall. Magnetic resonance imaging detected a mass at the right frontal sagittal sinus. He underwent tumor resection and recovered well, but post-operative computed tomography revealed three lumps on the right side of his chest. Thoracic surgery was performed to remove two of the lumps. Pathological findings revealed that the brain and lung tumors were grade I meningiomas. The patient received no additional radiation or chemotherapy post-surgery, and there was no sign of tumor recurrence in the brain or progression of the remaining lump in the chest 1 year after surgery. We performed whole exome sequencing of the patient's blood, primary brain tumor, and lung metastatic tumor tissues to identify somatic genetic alterations that had occurred during ENM. This revealed that a frameshift deletion of the neurofibromin 2 gene likely drove formation of the meningioma. Surprisingly, we found that the brain tumor was relatively homo...Continue Reading

References

Nov 24, 1999·Mayo Clinic Proceedings·A AdlakhaJ H Ryu
Nov 22, 2001·Journal of Neuro-oncology·T SchweitzerJ C Tonn
Jan 22, 2002·American Journal of Clinical Oncology·J M KaminskiH Brem
May 10, 2002·Genes & Development·Michel KalamaridesMarco Giovannini
Jul 31, 2002·The Lancet Oncology·A SubramanianR Bradford
Jun 7, 2005·Surgical Neurology·Pierre D MouradDaniel L Silbergeld
Nov 18, 2006·Lancet Neurology·Markus J RiemenschneiderGuido Reifenberger
Nov 17, 2007·Cancer Research·Michalis LiontosVassilis G Gorgoulis
Oct 29, 2010·Nature·Shinichi YachidaChristine A Iacobuzio-Donahue
Oct 15, 2011·The Journal of Immunology : Official Journal of the American Association of Immunologists·Ilan VolovitzLea Eisenbach
May 15, 2012·Bioinformatics·Christopher T SaundersR Keira Cheetham
Jan 22, 2013·Nature Genetics·Priscilla K BrastianosRameen Beroukhim
Aug 30, 2013·Nature Reviews. Neuroscience·Lorraine W LauV Wee Yong
Sep 17, 2013·Nature Methods·Abel Gonzalez-PerezNuria Lopez-Bigas
Feb 21, 2014·Nature·Matthew ParkerRichard J Gilbertson
Aug 1, 2014·Science Translational Medicine·Carolin MüllerSabine Riethdorf
Aug 22, 2014·Bioinformatics·András SzolekOliver Kohlbacher
Nov 8, 2014·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Clara FrydrychowiczWolfgang Krupp
Sep 27, 2016·American Journal of Human Genetics·Nilah M IoannidisWeiva Sieh
Apr 19, 2017·Human Mutation·Shuji KawaguchiFumihiko Matsuda
Jul 18, 2017·NPJ Genomic Medicine·Wenya Linda BiRameen Beroukhim

❮ Previous
Next ❯

Citations

Jun 25, 2020·Medicinal Research Reviews·Jan MartelJohn D Young
Jun 11, 2020·Acta Neuropathologica Communications·Harish N VasudevanDavid R Raleigh

❮ Previous
Next ❯

Methods Mentioned

BETA
surgical resection
exome sequencing

Software Mentioned

sciClone R package
Varscan2
HD algorithms
MuTect2
Strelka
CAP
HLA
OptiType
REVEL

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Annals of Thoracic and Cardiovascular Surgery : Official Journal of the Association of Thoracic and Cardiovascular Surgeons of Asia
Yujiro NakayamaTai Hato
Kyobu geka. The Japanese journal of thoracic surgery
Tomomi IsonoMasaharu Nakade
Kyobu geka. The Japanese journal of thoracic surgery
Tatsuya NishidaN Nishiyama
© 2022 Meta ULC. All rights reserved