KIT codon 558 insertions in gastrointestinal stromal tumors. Analysis of 17 rare KIT mutants

Human Pathology
Jerzy LasotaMarkku Miettinen

Abstract

Gastrointestinal stromal tumors are the most common mesenchymal neoplasms of gastrointestinal tract often driven by oncogenic KIT exon 11 mutations. Although deletions and substitutions are most frequent KIT exon 11 mutations, duplications and insertions have been reported as well. In contrast to duplications, which cluster in 3'KIT exon 11, insertions affect 5'KIT, particularly codon 558. Clinicopathologic profile of gastrointestinal stromal tumors with insertions in codon 558 is not known. In this study, 17 gastrointestinal stromal tumors with codon 558 insertions are reported. Fifteen (88.2%) KIT codon 558 insertions consisted of 1694_1695insTCC leading to Lys558delinsAsnPro. However, 2 variant mutants Lys558delinsAsnGln and Lys558delinsAsnAsn were also identified. Based on analysis of inserted and flanking sequences, the insertions contain inverted DNA sequences of the opposite strand. Therefore, these insertions may develop due to a DNA strand switch during replication by DNA polymerases and by the effects of several different DNA repair processes. Patient median age was 61 years, and male-to-female ratio was 1:1.8. gastrointestinal stromal tumors were diagnosed in stomach (n = 4), small intestine (n = 7), and rectum (n = ...Continue Reading

References

Sep 1, 1997·Molecular and Cellular Biology·E AkgünM Jasin
Feb 19, 2002·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Eva WardelmannTorsten Pietsch
Aug 24, 2002·APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica·Maarit Sarlomo-RikalaMarkku Miettinen
Jan 11, 2003·Science·Michael C HeinrichJonathan A Fletcher
Jan 17, 2003·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Tony Pawson
Aug 15, 2003·International Journal of Cancer. Journal International Du Cancer·Eva WardelmannSabine Merkelbach-Bruse
Dec 4, 2003·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Michael C HeinrichJonathan A Fletcher
Dec 19, 2003·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Jerzy LasotaMarkku Miettinen
May 22, 2004·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Bartosz WasagRaf Sciot
Dec 8, 2004·Cellular and Molecular Life Sciences : CMLS·Y Kitamura, S Hirotab
Jun 3, 2005·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Cristina R AntonescuRonald P DeMatteo
Jun 28, 2005·Nucleic Acids Research·Nicholas R Markham, Michael Zuker
Sep 2, 2005·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Javier MartínUNKNOWN Spanish Group for Sarcoma Research
Apr 21, 2006·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Maria Debiec-RychterUNKNOWN Australasian GastroIntestinal Trials Group
May 16, 2006·Gastroenterology·Johanna AnderssonBengt Nilsson
Sep 7, 2006·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Michael C HeinrichJonathan A Fletcher
Dec 30, 2006·Seminars in Diagnostic Pathology·Jerzy Lasota, Markku Miettinen
Jan 2, 2007·The American Journal of Surgical Pathology·Abbas AgaimyArndt Hartmann
May 15, 2007·Cancer Genetics and Cytogenetics·Jerzy Lasota, Markku Miettinen
May 17, 2007·APMIS : Acta Pathologica, Microbiologica, Et Immunologica Scandinavica·Sonja E SteigenMarkku Miettinen
Mar 20, 2008·World Journal of Gastroenterology : WJG·Katerina Kontogianni-KatsarouAgatha Kondi-Paphiti

❮ Previous
Next ❯

Citations

Dec 20, 2012·OncoTargets and Therapy·Michael KaranikasAlexandros Polychronidis
Sep 24, 2010·The American Journal of Surgical Pathology·Sabrina RossiAngelo Paolo Dei Tos
May 3, 2011·International Journal of Surgical Pathology·Joshua Anspach HansonKumarasen Cooper

❮ 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.

© 2022 Meta ULC. All rights reserved