Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas.

Brain Pathology
Sushama PatilAnat Stemmer-Rachamimov

Abstract

The INI1/SMARCB1 protein product (INI1), a component of a transcription complex, was recently implicated in the pathogenesis of schwannomas in two members of a single family with familial schwannomatosis. Tumors were found to have both constitutional and somatic mutations of the SMARCB1 gene and showed a mosaic pattern of loss of INI1 expression by immunohistochemistry, suggesting a tumor composition of mixed null and haploinsufficient cells. To determine if this finding could be extended to all tumors arising in familial schwannomatosis, and how it compares with other multiple schwannoma syndromes [sporadic schwannomatosis and neurofibromatosis 2 (NF2)] as well as to sporadic, solitary schwannomas, we performed an immunohistochemistry analysis on 45 schwannomas from patients with multiple schwannoma syndromes and on 38 solitary, sporadic schwannomas from non-syndromic patients. A mosaic pattern of INI1 expression was seen in 93% of tumors from familial schwannomatosis patients, 55% of tumors from sporadic schwannomatosis, 83% of NF2-associated tumors and only 5% of solitary, sporadic schwannomas. These results confirm a role for INI1/SMARCB1 in multiple schwannoma syndromes and suggest that a different pathway of tumorigenesis...Continue Reading

References

Sep 1, 1996·Genes, Chromosomes & Cancer·L B JacobyJ F Gusella
Dec 18, 1997·American Journal of Human Genetics·L B JacobyM MacCollin
Jun 23, 2001·Oncogene·C Muchardt, M Yaniv
Mar 12, 2005·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Arie PerryJaclyn A Biegel
Jun 16, 2005·Neurology·M MacCollinE S Roach
Nov 2, 2005·Pediatric Blood & Cancer·Kristin JansonJaclyn A Biegel
Mar 11, 2006·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Ellen SigaukeJack Raisanen

❮ Previous
Next ❯

Citations

Oct 1, 2010·Acta Neuropathologica·Stefan M PfisterMichael D Taylor
Nov 9, 2010·Acta Neuropathologica·Bret C MobleyHannes Vogel
Dec 31, 2010·Acta Neuropathologica·Fausto J RodriguezAnat O Stemmer-Rachamimov
Sep 24, 2013·Pathology, Research and Practice·José Fernando Val-BernalMaría José Sedano-Tous
Sep 6, 2012·Human Molecular Genetics·Miriam J SmithScott R Plotkin
Oct 15, 2011·The American Journal of Surgical Pathology·Rondell P D GrahamAndrew L Folpe
Nov 17, 2009·Journal of Neuropathology and Experimental Neurology·Martin HasselblattWerner Paulus
Sep 1, 2011·Surgical Pathology Clinics·Andrea T Deyrup
Feb 27, 2009·Pathology, Research and Practice·Rita AlaggioGaetano Magro
Dec 17, 2008·Pediatric Blood & Cancer·Pierre Russo, Jaclyn A Biegel
Feb 6, 2013·Histopathology·Cecilia Y S HoAnthony W I Lo
Feb 13, 2013·American Journal of Medical Genetics. Part a·Scott R PlotkinMarco Giovannini
Jan 24, 2014·Brain Pathology·David A Hilton, Clemens Oliver Hanemann
Feb 18, 2009·Brain Pathology·Diane K BirksMichael H Handler
Nov 19, 2013·Histopathology·Cheryl M CoffinScott C Borinstein
Mar 4, 2014·Diagnostic Cytopathology·Güneş GünerFigen Söylemezoğlu
Jan 19, 2010·American Journal of Medical Genetics. Part a·Joseph L KissilKathryn North
Apr 29, 2015·APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica·Bharat Rekhi, Ulrich Vogel
May 9, 2012·Genetics Research International·Erika Celis-AguilarJuan A Rey
Jun 14, 2015·Neuro-Chirurgie·R AboukaisJ-P Lejeune
Jun 29, 2013·Human Pathology·Makoto EndoYoshinao Oda
Oct 18, 2016·Seminars in Diagnostic Pathology·Christine E Fuller
Feb 22, 2017·Neuropathology and Applied Neurobiology·M HasselblattW Paulus
Nov 11, 2019·Virchows Archiv : an International Journal of Pathology·Anders Meyer, Steven D Billings
Apr 4, 2017·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Rosario CaltabianoMartino Ruggieri
Dec 31, 2020·Pathology International·Hiroko FukushimaTakeshi Inoue
Jul 18, 2021·Human Mutation·Cristina Perez-BecerrilMiriam J Smith

❮ Previous
Next ❯

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.