scholarly journals Absence of aneuploidy and gastrointestinal tumours in a man with a chromosomal 2q13 deletion and BUB1 monoallelic deficiency

2013 ◽  
Vol 2013 (feb25 1) ◽  
pp. bcr2013008684-bcr2013008684 ◽  
Author(s):  
D. Hoang ◽  
G. R. Sue ◽  
F. Xu ◽  
P. Li ◽  
D. Narayan
2013 ◽  
Vol 82 (4) ◽  
pp. 387-392 ◽  
Author(s):  
Lucia Frgelecová ◽  
Miša Škorič ◽  
Petr Fictum ◽  
Roman Husník

The aim of our study was to investigate histopathologically the incidence of gastrointestinal tract tumours in dogs in the Czech Republic in relation to their age, sex and breed. In total, 29 gastric and 45 intestinal tumours from 3827 gastrointestinal tract biopsies were investigated. The average age of dogs with gastric lymphoma, adenocarcinoma, and other mesenchymal tumours was 7.3 years, 9.5 years, and > 10 years, respectively. Breed predisposition to adenocarcinoma was evidenced in the Belgian Shepherd and Leonberger, to lymphoma in the Doberman (P < 0.01). The most frequent site of adenocarcinoma was antrum pyloricum (66.7%); lymphomas involved gastric wall diffusely. The average age of dogs with intestinal adenoma, adenocarcinoma, lymphoma, leiomyoma or leiomyosarcoma and carcinoid was 7.5, 8.5, 8.5, 12, and 14 years, respectively. The age predisposition to intestinal adenoma and lymphoma was 7–8 years (P < 0.01) and to adenocarcinoma 7–8 years (P < 0.05); mesenchymal tumours occurred at the age of 11–12 years (P < 0.01). Breed predisposition to intestinal adenoma was evidenced in the Pug, Leonberger and English Setter (P < 0.01), to adenocarcinoma in the English Setter (P < 0.01) and Hovawart (P < 0.05), to lymphoma in the Doberman and Hovawart (P < 0.05). The most frequent site of occurrence of intestinal tumours was the colorectal region. The study revealing breed, sex and age predisposition to gastrointestinal tumours in dogs has not been described yet in the literature.


1973 ◽  
Vol 2 (3) ◽  
pp. 675-701
Author(s):  
PETER S. HARPER

2017 ◽  
Vol 48 (2) ◽  
pp. 135-147 ◽  
Author(s):  
Jorge Hernando-Cubero ◽  
Ignacio Matos-García ◽  
Vicente Alonso-Orduña ◽  
Jaume Capdevila

2021 ◽  
Author(s):  
David M Favara ◽  
Han Wong ◽  
Jennifer Harrington ◽  
Olivier Giger ◽  
V Ramesh Bulusu

Background PDGRFA-mutant gastrointestinal tumours (GISTs) comprise approximately 10% of GISTs and are mostly gastric. Targeted therapies against these tumours have historically been limited by tyrosine kinase inhibitor (TKI)-resistance. We reviewed the characteristics and outcome of all PDGRFA-mutant patients seen at our centre over the last 13 years. Methods All PDGRFA-mutant patients seen at the Cambridge University Hospitals NHS Foundation Trust GIST clinic from July 2008-July 2021 were retrospectively reviewed and followed up. Results: 50 PDGRFA-mutant GIST patients were diagnosed during the 13-year period. 60% were male. Median tumour size was 5 cm and the majority were epithelioid (44%) or mixed (36%) type. Commonest primary location was the gastric body (52%). In non-metastatic patients the low-risk modified AFIP risk group was the most common (65.2%). PDGFRA exon 18 (86%) were the most common PDGFRA mutations, most being imatinib resistant. None harboured a KIT mutation. 38% of cases had high KIT expression (immunohistochemistry), whilst 48% had patchy expression and 14% were negative. Most were positive for DOG1 (94%). CD34 was highly expressed in 48% of cases. 13% developed metastases during the 13-year follow-up period: liver (80%) being the commonest site. 76% of all patients underwent radical resection. 14% received TKI therapy. After a median follow-up of 55.1 months, 82% remained alive: 6 patients died from metastatic GIST; 3 from other causes. Median time to metastatic disease was 30.1 months, and median time from metastatic diagnosis to death was 18.5 months. Patients who presented with metastatic disease had the poorest survival outcome (p=0.001) Conclusion To date this is the largest single-centre European PDGRFA-mutant GIST cohort. Results highlight the generally indolent nature of PDGRFA-mutant disease (contrasted to the poor outcome of those who present with metastatic disease), male and gastric preponderance (unlike KIT-mutant GISTs), and variable KIT expression.


2004 ◽  
Vol 40 (9) ◽  
pp. 1302-1313 ◽  
Author(s):  
G. Garcea ◽  
T.D. Lloyd ◽  
A. Gescher ◽  
A.R. Dennison ◽  
W.P. Steward ◽  
...  

Author(s):  
S. Monfardini ◽  
K. Brunner ◽  
D. Crowther ◽  
S. Eckhardt ◽  
D. Olive ◽  
...  

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