Gastrointestinal Stromal Tumor

Description

Gastrointestinal stromal tumor (GIST) is the most common mesenchymal neoplasm of the gastrointestinal (GI) tract, typically presenting in adults over the age of 40 (mean age 63), and only rarely in children, in various regions of the GI tract, most commonly the stomach or small intestine but also less commonly in the esophagus, appendix, rectum and colon. GISTs can be asymptomatic or present with various non-specific signs, depending on the location and size of tumor, such as loss of appetite, anemia, weight loss, fatigue, abdominal discomfort or fullness, nausea, vomiting, as well as an abdominal mass, blood in stool, and intestinal obstruction. GISTs can also be seen in familial syndromes such as Carney triad and neurofibromatosis type 1.

Clinical Features

Top most frequent phenotypes and symptoms related to Gastrointestinal Stromal Tumor

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Fatigue
  • Dysphagia
  • Vomiting
  • Constipation
  • Abdominal pain
  • Weight loss

And another 31 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Gastrointestinal Stromal Tumor have a estimated incidence of 1 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Gastrointestinal Stromal Tumor Is also known as gastrointestinal stromal sarcoma, gist.

Researches and researchers

Doctors, researchs, and experts related to Gastrointestinal Stromal Tumor extracted from public data.

Gastrointestinal Stromal Tumor Experts map



Current Researchs and researchers

  • INNSBRUCK — Pr Werner JASCHKE

    Investigator of research project - Director of department

    • Institution/s:
      — Medizinische Universität Innsbruck
    • Research area/topic::

      MITIGATE - Closed-loop Molecular Environment for Minimally Invasive Treatment of Patients with Metastatic Gastrointestinal Stromal Tumours - AT


  • GRENOBLE — Dr Maureen FAIHURST

    Investigator of research project

    • Institution/s:
      — STEMCELL TECHNOLOGIES SARL
    • Research area/topic::

      MITIGATE - Closed-loop Molecular Environment for Minimally Invasive Treatment of Patients with Metastatic Gastrointestinal Stromal Tumours - FR


  • MANNHEIM — Pr Stefan SCHÖNBERG

    Coordinator of expert centre - Clinical expert - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Universitätsmedizin Mannheim
      — Universitätsmedizin Mannheim
    • Research area/topic::

      MITIGATE: Closed-loop Molecular Environment for Minimally Invasive Treatment of Patients with Metastatic Gastrointestinal Stromal Tumours -DE-


  • SAN GIOVANNI ROTONDO — Dr Massimo CARELLA

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — IRCCS Ospedale Casa Sollievo della Sofferenza - Polamb. Giovanni Paolo II
    • Research area/topic::

      Expression profiling studies in tumors by using DNA microarrays


  • TORINO — Pr Giorgio INGHIRAMI

    Investigator of research project

    • Institution/s:
      — Università degli Studi di Torino
    • Research area/topic::

      MITIGATE - Closed-loop Molecular Environment for Minimally Invasive Treatment of Patients with Metastatic Gastrointestinal Stromal Tumours - IT


  • PORTO — Dr JOSÉ M LOPES

    Investigator of research project

    • Institution/s:
      — Instituto de Patologia e Imunologia Molecular da Universidade do Porto
    • Research area/topic::

      Study of mTOR pathway in GISTs


  • NYI UK — Institution: Information not provided - UK



    • Institution/s:
      — Institution: Information not provided - UK
    • Research area/topic::

      Regorafenib for treating advanced, metastatic or unresectable gastro-intestinal stomal tumours (GIST) after failure of at least previous imatinib and sunitinib (ID1056)



Mendelian

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Gastrointestinal Stromal Tumor Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Brachydactyly type A1 (sequence analysis of IHH gene).

By CGC Genetics (Portugal).

IHH
Specificity
100 %
Genes
3 %
Brachydactyly type A1 (sequence analysis of IHH gene).

By CGC Genetics (Portugal).

IHH
Specificity
100 %
Genes
3 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

View the complete list with 48 more genes
Specificity
5 %
Genes
7 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
2 %
Genes
9 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
3 %
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.

By Connective Tissue Gene Tests (United States).

RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
3 %
Spondylo-Epi-Metaphyseal dysplasias NGS panel.

By Connective Tissue Gene Tests (United States).

RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
3 %
Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel.

By CeGaT GmbH (Germany).

ROR2, TRPS1, WNT5A, IFT122, ADAMTSL2, DDR2, IFT140, WDR35, ZSWIM6, IFT43, FBN1, FGFR3, GDF5, GPC6, GSC, IHH, NPR2, PDE4D, PRKAR1A
Specificity
6 %
Genes
3 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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