scholarly journals Classification of gastrointestinal stromal tumor syndromes

2018 ◽  
Vol 25 (2) ◽  
pp. R49-R58 ◽  
Author(s):  
Priya Gopie ◽  
Lin Mei ◽  
Anthony C Faber ◽  
Steven R Grossman ◽  
Steven C Smith ◽  
...  
Keyword(s):  
Interstitial Cells Of Cajal ◽  
Clinical Manifestations ◽  
Incidence Rates ◽  
Wild Type ◽  
Mesenchymal Tumors ◽  
Therapeutic Implications ◽  
The Past ◽  
High Incidence ◽  
Cells Of Cajal

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, thought to derive from neoplastic outgrowth of the interstitial cells of Cajal. Building on recent advances in recognition, classification and diagnosis, the past two decades have seen a changing paradigm with molecular diagnostics and targeted therapies.KITandPDGFRAmutations account for 85–90% of GIST carcinogenesis. However, the remaining 10–15% of GISTs, which until recently were calledKIT/PDGFRAwild-type GISTs, have been found to have one of the several mutations, including in theSDHA,B,C,D,BRAFandNF1genes. Though most of such GISTs are sporadic, a number of families with high incidence rates of GISTs and other associated clinical manifestations have been reported and found to harbor germline mutations inKIT,PDGFRA,SDHsubunits andNF1. The goal of this review is to describe the mutations, clinical manifestations and therapeutic implications of syndromic and inherited GISTs in light of recent studies of their clinicopathologic range and pathogenesis.

Imatinib in the Management of Multiple Gastrointestinal Stromal Tumors Associated With a Germline KIT K642E Mutation

2007 ◽  
Vol 131 (9) ◽  
pp. 1393-1396
Author(s):  
Janet Graham ◽  
Maria Debiec-Rychter ◽  
Christopher L. Corless ◽  
Robin Reid ◽  
Rosemarie Davidson ◽  
...  
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Interstitial Cells Of Cajal ◽  
Germline Mutations ◽  
Mesenchymal Tumors ◽  
Stromal Tumors ◽  
Pdgfra Gene ◽  
Oncogenic Mutations ◽  
Esophageal Tumors ◽  
Exon 11 ◽  
Cells Of Cajal

Abstract Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gut and are distinguished by expression of CD117 (c-Kit). Oncogenic mutations in the KIT or PDGFRA gene are detected in approximately 85% of sporadic GISTs. In recent years, examples of familial GIST have been reported in which germline mutations of KIT or PDGFRA result in multiple GISTs, skin disorders, and other abnormalities. The most common germline mutations are in KIT exon 11, mutations in exons 8 and 17 have also been described, and there are 2 families with germline PDGFRA mutations. We present a case in which a germline KIT exon 13 mutation (K642E) was discovered in a patient with multiple GISTs of rectum, small intestine, and esophagus, as well as diffuse hyperplasia of the interstitial cells of Cajal. To our knowledge, this is only the second germline example of this particular mutation. The patient's esophageal tumors were stabilized with imatinib.

scholarly journals Comparison of mechanical and electrical activity and interstitial cells of Cajal in urinary bladders from wild-type andW/Wvmice

2009 ◽  
Vol 156 (2) ◽  
pp. 273-283 ◽  
Author(s):  
KD McCloskey ◽  
UA Anderson ◽  
RA Davidson ◽  
YR Bayguinov ◽  
KM Sanders ◽  
...  
Keyword(s):  
Electrical Activity ◽  
Interstitial Cells Of Cajal ◽  
Interstitial Cells ◽  
Wild Type ◽  
Cells Of Cajal

Large Omental Metastases of a Gastrointestinal Stromal Tumor

Medicina ◽  
2011 ◽  
Vol 47 (11) ◽  
pp. 86
Author(s):  
Povilas Ignatavičius ◽  
Tomas Petraitis ◽  
Žilvinas Saladžinskas ◽  
Lilija Butkevičienė ◽  
Kristina Žvinienė
Keyword(s):  
Case Report ◽  
Gastrointestinal Tract ◽  
Gastrointestinal Stromal Tumor ◽  
Gastrointestinal Stromal Tumors ◽  
Interstitial Cells Of Cajal ◽  
Metastatic Tumor ◽  
Stromal Tumor ◽  
Mesenchymal Tumors ◽  
Stromal Tumors ◽  
Cells Of Cajal

Gastrointestinal stromal tumors are rare tumors, originating from the interstitial cells of Cajal. They are the most common mesenchymal tumors of the gastrointestinal tract. Metastatic tumor is treated with imatinib mesylate. A case of large metastases of a gastrointestinal stromal tumor to the omentum, diagnosis and treatment principles are presented in this case report.

Gallbladder GIST: A review of literature

2019 ◽  
Vol 92 (1) ◽  
pp. 1-5
Author(s):  
Ashish Gupta
Keyword(s):  
Gastrointestinal Stromal Tumors ◽  
Interstitial Cells Of Cajal ◽  
Case Reports ◽  
Gallbladder Wall ◽  
Postoperative Adjuvant Therapy ◽  
Review Of Literature ◽  
Mesenchymal Tumors ◽  
Stromal Tumors ◽  
Extensive Search ◽  
Cells Of Cajal

Mesenchymal tumors of the gallbladder are rarely encountered in clinical practice. The Gastrointestinal Stromal tumors(GIST) of the gallbladder are rarely encountered. These tumors most commonly arise from the interstitial cells of cajal(ICC), the pacemakers of the intestinal system. There can be benign as well as malignant form of GIST .The literature on GIST arising from the gallbladder wall is limited to few case reports only.on extensive search of the indexed literature only 9 cases of gallbladder GIST were retrieved. Based on the available literature these tumors are commonly found in females. They usually present with hypochondrial pain with or without other features of cholangitis. These tumors are usually malignant and warrant a radical surgical excision.The data on postoperative adjuvant therapy and survival is limited. The authors are presenting a review of the available literature on this rare pathology.

scholarly journals Multi-Platform Classification of IDH-Wild-Type Glioblastoma Based on ERK/MAPK Pathway: Diagnostic, Prognostic and Therapeutic Implications

Cancers ◽  
2021 ◽  
Vol 13 (18) ◽  
pp. 4532
Author(s):  
Maria-Magdalena Georgescu
Keyword(s):  
Mapk Pathway ◽  
Adult Population ◽  
Prognostic Significance ◽  
Signal Transduction Pathway ◽  
Current Therapy ◽  
Wild Type ◽  
Molecular Subgroups ◽  
Therapeutic Implications ◽  
Erk Mapk

Glioblastoma is the most aggressive and frequent glioma in the adult population. Because current therapy regimens confer only minimal survival benefit, molecular subgrouping to stratify patient prognosis and therapy design is warranted. This study presents a multi-platform classification of glioblastoma by analyzing a large, ethnicity-inclusive 101-adult-patient cohort. It defines seven non-redundant IDH-wild-type glioblastoma molecular subgroups, G1–G7, corresponding to the upstream receptor tyrosine kinase (RTK) and RAS-RAF segment of the ERK/MAPK signal transduction pathway. These glioblastoma molecular subgroups are classified as G1/EGFR, G2/FGFR3, G3/NF1, G4/RAF, G5/PDGFRA, G6/Multi-RTK, and G7/Other. The comprehensive genomic analysis was refined by expression landscaping of all RTK genes, as well as of the major associated growth pathway mediators, and used to hierarchically cluster the subgroups. Parallel demographic, clinical, and histologic pattern analyses were merged with the molecular subgrouping to yield the first inclusive multi-platform classification for IDH-wild-type glioblastoma. This straightforward classification with diagnostic and prognostic significance may be readily used in neuro-oncological practice and lays the foundation for personalized targeted therapy approaches.

scholarly journals Gastrointestinal Stromal Tumors of Small Intestine

2019 ◽  
Vol 05 (03) ◽  
pp. e92-e95 ◽  
Author(s):  
Tanweerul Huda ◽  
Mahendra Pratap Singh
Keyword(s):  
Gastrointestinal Tract ◽  
Interstitial Cells Of Cajal ◽  
Surgical Excision ◽  
Biological Behavior ◽  
Pacemaker Cells ◽  
Mesenchymal Tumors ◽  
Stromal Tumors ◽  
Cells Of Cajal ◽  
Oncogene Protein

AbstractGastrointestinal stromal tumor (GIST) is defined as mesenchymal tumors of the gastrointestinal tract expressing proto-oncogene protein CD117. They are the most common sarcomatous tumors of the gastrointestinal tract. GISTs are presumed to arise from interstitial cells of Cajal or gastrointestinal pacemaker cells which control gut motility. They have unpredictable biological behavior. Prognosis is dependent on tumor size as well as mitotic count. Radical surgical excision is the treatment of choice. They rarely metastasize to lymph nodes. Imatinib therapy is used as an adjuvant therapy. The follow-up of patients postsurgery is not standardized.

Interstitial cells of Cajal and adaptive relaxation in the mouse stomach

2006 ◽  
Vol 291 (6) ◽  
pp. G1129-G1136 ◽  
Author(s):  
Devika Dixit ◽  
Natalia Zarate ◽  
Louis W. C. Liu ◽  
Douglas R. Boreham ◽  
Jan D. Huizinga
Keyword(s):  
Nitric Oxide ◽  
Nitric Oxide Synthase ◽  
Interstitial Cells Of Cajal ◽  
Interstitial Cells ◽  
Myogenic Tone ◽  
Wild Type ◽  
Pressure Development ◽  
Organ Level ◽  
Cells Of Cajal ◽  
Oxide Synthase

Interstitial cells of Cajal (ICC) are proposed to play a role in stretch activation of nerves and are under intense investigation for potential roles in enteric innervation. Most data to support such roles come from in vitro studies with muscle strips whereas data at the whole organ level are scarce. To obtain insight into the role of ICC in distention-induced motor patterns developing at the organ level, we studied distension-induced adaptive relaxation in the isolated whole stomach of wild-type and W/Wv mice. A method was developed to assess gastric adaptive relaxation that gave quantitative information on rates of pressure development and maximal adaptive relaxation. Pressure development was monitored throughout infusion of 1 ml of solution over a 10-min period. The final intraluminal pressure was sensitive to blockade of nitric oxide synthase, in wild-type and W/Wv mice to a similar extent, indicating NO-mediated relaxation in W/Wv mice. Adaptive relaxation occurred between 0.2 and 0.5 ml of solution infusion; this reflex was abolished by TTX, was not sensitive to blockade of nitric oxide synthase, but was abolished by apamin, suggesting that ATP and not nitric oxide is the neurotransmitter responsible for this intrinsic reflex. Despite the absence of intramuscular ICC (ICC-IM), normal gastric adaptive relaxation occurred in the W/Wv stomach. Because pressure development was significantly lower in W/Wv mice compared with wild type in all the conditions studied, including in the presence of TTX, ICC-IM may play a role in development of myogenic tone. In conclusion, a mouse model was developed to assess the intrinsic component of gastric accommodation. This showed that ICC-IM are not essential for activation of intrinsic sensory nerves nor ATP-driven adaptive relaxation nor NO-mediated relaxation in the present model. ICC-IM may be involved in regulation of (distention-induced) myogenic tone.

PATH-33. MOLECULAR TYPING AND MUTATION SPECTRUM OF CHINESE CHILDREN WITH MEDULLOBLASTOMA WERE IDENTIFIED BY NEXT-GENERATION SEQUENCING

2021 ◽  
Vol 23 (Supplement_6) ◽  
pp. vi122-vi122
Author(s):  
Juan Li ◽  
Mingyao Lai ◽  
Qingjun Hu ◽  
Ruyu Ai ◽  
Linbo Cai
Keyword(s):  
Molecular Typing ◽  
Tp53 Mutation ◽  
Clinical Manifestations ◽  
Incidence Rates ◽  
Chinese Children ◽  
Mutation Spectrum ◽  
Mycn Amplification ◽  
Wild Type ◽  
Comparison Results ◽  
Mutation Ratio

Abstract There are few reports on molecular typing and mutation spectrum of Chinese children with medulloblastoma. Here, we aimed to update the clinical manifestations and MB transcriptional mutation spectrum in Chinese Mb patients. Medical records of 59 Mb patients were reviewed. Genomic DNA was extracted from pathological tissues of children. Mutation analysis of whole coding regions, promoter regions and flanking splice sites in whole genome sequencing was performed. Nine cases (15%)with WNT subtype: CTNNB1 mutation was found in all specimens, and TP53 mutation was found in 33.3%. DDX3X mutation occurred in 33.3%. 33.3% had SMARCA4 mutations. Chr6 - associated large fragment deletion occurred in 88.9s. Comparison results between 19 cases (32%) with SHH data and previous studies: The proportion of SHH-TP53 mutants was11% ( 2/19).The proportion of SHH-TP53 wild-type was 89%.The prognosis of the mutated SHH-TP53 was worse than that of the wild-type SHH-TP53, and patient follow-up information could be integrated for comparison. Secondly, PTCH1 is more prevalent in patients with SHH (16%). The DDX3X mutation proportion was 11%. The mutation ratio of Gli2 amplification5%.The mutation ratio of MYCN amplification was 5%.Comparison results of 3 cases with G3 subtype data and previous studies: Variations mainly occur at the chromosomal level. Only one G3 patient had a genetic mutation (TP53 mutation). The proportion of Chr17q+ was 33.3%. CHR7 + proportion was 33.3%. The incidence rates of CHR10Q and CHR11Q were 66.7%.No MYC amplification was found. For 28 cases with G4 subtype: Chr17q +, Chr7 +, Chr18 +, and Chr8 - are the major chromosomal mutations. The incidence rate of CHR17Q + was 61%, and CHR7 + was 61%. CHR8- occurred in 11%. The above results are consistent with previous reports. The Chinese population and other population have similar molecular genotyping gene variation map on medulloblastoma.

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