Journal ArticleDOI
"Pediatric-type" gastrointestinal stromal tumors are SDHB negative ("type 2") GISTs.
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TLDR
Detailed hematologic presentation of autoimmune gastritis in patients with autoimmune metaplastic atrophic gastritis (AMAG) in a tertiary care setting and the relationship between pernicious anemia and iron deficiency is described.Abstract:
REFERENCES 1. Abraham SC, Montgomery EA, Singh VK, et al. Gastric adenomas: intestinal-type and gastric-type adenomas differ in the risk of adenocarcinoma and presence of background mucosal pathology. Am J Surg Pathol. 2002;26:1276–1285. 2. Hershko C, Ronson A, Souroujon M, et al. Variable hematologic presentation of autoimmune gastritis: age-related progression from iron deficiency to cobalamin depletion. Blood. 2006;107:1673–1679. 3. Lagarde S, Jovenin N, Diebold MD, et al. Is there any relationship between pernicious anemia and iron deficiency? Gastroenterol Clin Biol. 2006;30:1245–1249. 4. Park JY, Cornish TC, Lam-Himlin D, et al. Gastric lesions in patients with autoimmune metaplastic atrophic gastritis (AMAG) in a tertiary care setting. Am J Surg Pathol. 2010;34:1591–1598.read more
Citations
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Journal ArticleDOI
Sarcoma classification: an update based on the 2013 World Health Organization Classification of Tumors of Soft Tissue and Bone.
TL;DR: Changes in the classification of soft tissue and bone sarcomas as well as tumors of intermediate biologic potential in the 2013 World Health Organization volume are reviewed, new molecular insights into these tumors, and associated surgical and clinical implications are reviewed.
Journal ArticleDOI
Refinements in Sarcoma Classification in the Current 2013 World Health Organization Classification of Tumours of Soft Tissue and Bone
Vickie Y. Jo,Leona A. Doyle +1 more
TL;DR: The fourth edition of the World Health Organization (WHO) Classification of Tumours of Soft Tissue and Bone was published in February 2013 and provides an updated classification scheme and reproducible diagnostic criteria, based on recent clinicopathologic studies and genetic and molecular data.
Journal ArticleDOI
Succinate dehydrogenase (SDH)-deficient renal carcinoma: a morphologically distinct entity: a clinicopathologic series of 36 tumors from 27 patients.
Anthony J. Gill,Anthony J. Gill,Ondrej Hes,Thomas G. Papathomas,Monika Sedivcova,Puay Hoon Tan,Abbas Agaimy,Per Arne Andresen,Andrew Kedziora,Adele Clarkson,Christopher W. Toon,Loretta Sioson,Nicole Watson,Angela Chou,Julie Paik,Roderick J. Clifton-Bligh,Bruce G. Robinson,Diana E. Benn,Kirsten Hills,Fiona Maclean,Nicolasine D. Niemeijer,Ljiljana J Vlatkovic,Arndt Hartmann,Eleonora P M Corssmit,Geert J.L.H. van Leenders,Christopher G. Przybycin,Jesse K. McKenney,Cristina Magi-Galluzzi,Asli Yilmaz,Darryl Yu,Katherine D. Nicoll,Jim L. Yong,Mathilde Sibony,Evgeny Yakirevich,Stewart Fleming,Chung Wo Chow,Markku Miettinen,Michal Michal,Kiril Trpkov +38 more
TL;DR: Although this tumor may undergo dedifferentiation and metastasize, sometimes after a prolonged delay, metastatic disease is rare in the absence of high-grade nuclear atypia or coagulative necrosis and showing a strong relationship with SDH germline mutation.
Journal ArticleDOI
Gastrointestinal Stromal Tumors
TL;DR: Tyrosine kinase inhibitor (TKI) therapy has led to substantial improvements in survival, both for patients with localized GIST and those with advanced disease, and imatinib is usually the best tolerated of the three and the standard first-line treatment.
Journal ArticleDOI
Succinate dehydrogenase (SDH) and mitochondrial driven neoplasia
Anthony J. Gill,Anthony J. Gill +1 more
TL;DR: Positive immunohistochemical staining for the SDHB subunit identifies PHEO/PGL associated with germline mutation of any of the mitochondrial complex 2 components and can be used to triage formal genetic testing of all PHEO /PGL for SDH mutations.
References
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Journal ArticleDOI
Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations
Katherine A. Janeway,Su Young Kim,Maya Lodish,Vânia Nosé,Pierre Rustin,José Gaal,Patricia L. M. Dahia,Bernadette Liegl,Evan R. Ball,Margarita Raygada,Angela H. Lai,Lorna Kelly,Jason L. Hornick,wild-type Gist Clinic,Maureen J. O'Sullivan,Ronald R. de Krijger,Winand N.M. Dinjens,George D. Demetri,Cristina R. Antonescu,Jonathan A. Fletcher,Lee J. Helman,Constantine A. Stratakis +21 more
TL;DR: WT GISTs, particularly those in younger patients, have defects in SDH mitochondrial complex II, and in a subset of these patients, GIST seems to arise from germline-inactivating SDH mutations.
Journal ArticleDOI
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.
Francien H van Nederveen,José Gaal,Judith Favier,Esther Korpershoek,Rogier A. Oldenburg,Elly M C A de Bruyn,Hein F.B.M. Sleddens,Pieter Derkx,Julie Rivière,Hilde Dannenberg,Bart-Jeroen Petri,Paul Komminoth,Karel Pacak,Wim C. J. Hop,Patrick J. Pollard,Massimo Mannelli,Jean-Pierre Bayley,Aurel Perren,Stephan Niemann,Albert A.J. Verhofstad,Adriaan P. de Bruïne,Eamonn R. Maher,Frédérique Tissier,Tchao Meatchi,Cécile Badoual,Jérôme Bertherat,Laurence Amar,Despoina Alataki,Eric Van Marck,Francesco Ferraù,Jerney François,Wouter W. de Herder,Mark-Paul F M Vrancken Peeters,Anne van Linge,Jacques W.M. Lenders,Jacques W.M. Lenders,Anne-Paule Gimenez-Roqueplo,Ronald R. de Krijger,Winand N.M. Dinjens +38 more
TL;DR: Phaeochromocytoma-paraganglioma syndrome can be diagnosed reliably by an immunohistochemical procedure and SDHB immunohistsochemistry could improve the diagnosis, according to a large retrospective and prospective tumour series.
Journal ArticleDOI
Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases.
TL;DR: None of the 16 tumors from 15 patients had a KIT exon 9, 11, 13, or 17 or PDGFRA exon 12 or 18 mutation as is typically seen in sporadic GISTs, indicating that GISTS in NF1 patients have a different pathogenesis than sporadic Gists.
Journal ArticleDOI
Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes.
Anthony J. Gill,Anthony J. Gill,Diana E. Benn,Angela Chou,Adele Clarkson,Anita Muljono,Goswin Y. Meyer-Rochow,Goswin Y. Meyer-Rochow,Anne Louise Richardson,Stan B. Sidhu,Stan B. Sidhu,Bruce G. Robinson,Roderick J. Clifton-Bligh +12 more
TL;DR: It is concluded that approximately 15% of all pheochromocytomas or paragangliomas are associated with germline SDH mutation and that immunohistochemistry can be used to triage genetic testing.
Journal ArticleDOI
Molecular Characterization of Pediatric Gastrointestinal Stromal Tumors
Narasimhan P. Agaram,Michael P. LaQuaglia,Berrin Ustun,Tianhua Guo,Grace C. Wong,Nicholas D. Socci,Robert G. Maki,Ronald P. DeMatteo,Peter Besmer,Cristina R. Antonescu +9 more
TL;DR: In vitro drug screening showed that second-generation kinase inhibitors may provide greater clinical benefit in pediatric GIST, and Pediatric GISTs show distinct transcriptional signature, suggesting a different biology than WT GIST in adults.
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Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations
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