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Betegségjelentés · Cancer

Hereditary Gastrointestinal Stromal Tumour

Whole genome sequencing reads the KIT, PDGFRA, SDHB and SDHC genes for inherited changes that can cause gastrointestinal stromal tumours (GISTs) to run in a family.

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A(z) condition ismertetése

Gastrointestinal stromal tumours (GISTs) are growths of the digestive tract wall. Rarely they run in families because of an inherited change in a gene such as KIT, PDGFRA, SDHB or SDHC, which this report analyses.

Gastrointestinal stromal tumours, or GISTs, are growths in the wall of the digestive tract, most often in the stomach or small intestine. Most GISTs are caused by changes acquired in the tumour itself, but rarely they run in families. People with familial KIT or PDGFRA GIST often develop several tumours and may have darker skin patches on the neck, face, armpits or groin.

KIT and PDGFRA make receptor proteins that send growth signals into cells. In familial GIST, a person inherits a change in one copy of KIT or PDGFRA that switches the gene on. A change in SDHB or SDHC that stops the gene working can also cause GIST, and when GISTs occur together with paragangliomas it is known as Carney-Stratakis syndrome.

SDH-related GISTs usually arise in the stomach of children and young adults, and SDH-deficient GISTs generally respond poorly to standard tyrosine kinase inhibitors. Response to treatment varies by gene and genotype. Specialist surveillance with endoscopy and imaging is offered, and SDHB and SDHC carriers are also screened for paragangliomas and phaeochromocytomas. Genetic counselling and testing of relatives are recommended.

A vizsgált betegség

Autoszomális domináns

Most GISTs are caused by changes acquired in the tumour itself. In familial GIST, a person inherits a change in one copy of KIT or PDGFRA that switches the gene on, or a change that stops SDHB or SDHC from working (Carney-Stratakis syndrome).

Tünetek és jelek

People with familial KIT or PDGFRA GIST often develop several GISTs, and may have skin pigmentation, mast cell changes or difficulty swallowing. SDH-related GISTs usually arise in the stomach in children and young adults and often occur with paragangliomas.

Mit változtat a diagnózis

Specialist surveillance with endoscopy and imaging is offered, and SDHB or SDHC carriers are also screened for paragangliomas and phaeochromocytomas. Response to treatment varies by gene and genotype, and SDH-deficient GISTs generally respond poorly to standard tyrosine kinase inhibitors. Genetic counselling and testing of relatives are recommended.

Vizsgált gének

Más néven

gastrointestinal stromal neoplasm; gastrointestinal stromal sarcoma; gastrointestinal stromal tumor (gist); gastrointestinal stromal tumor, familial, isolated cases; gastrointestinal stromal tumor, isolated cases; Gastrointestinal Stromal Tumors; gastrointestinal stromal tumour (gist); gastrointestinal stromal tumours; GIST

MONDO:0011719OMIM 606764Orphanet 44890MedGen 116049Források: [1][5][4][2]

Miért a teljes genom szekvenálás

A GIST that runs in a family can have an inherited cause, and the gene involved shapes the surveillance that is needed. Whole genome sequencing checks the genes this report analyses in one test.

The gene involved shapes follow-up

People with an inherited KIT or PDGFRA change often develop several GISTs and need specialist surveillance with endoscopy and imaging. SDHB and SDHC carriers are also screened for paragangliomas and phaeochromocytomas, so knowing the gene matters for follow-up.

Inherited in a dominant way

Familial GIST is inherited in an autosomal dominant way, so each child of an affected person has a 1 in 2 chance of inheriting the change. Testing relatives who have no symptoms can show who would benefit from surveillance.

Korlátok

  • GISTs can also be caused by SDHD changes or by NF1 changes (neurofibromatosis type 1), which this report does not analyse, so a negative result does not rule out an inherited cause.

Hivatkozások

  1. Fontebasso AM, Kim RH, 2026. Primary Familial Gastrointestinal Stromal Tumors. GeneReviews
  2. Blay JY, Kang YK, Nishida T, von Mehren M, 2021. Gastrointestinal stromal tumours. Nature reviews. Disease primers
  3. Raygada M, Pasini B, Stratakis CA, 2011. Hereditary paragangliomas. Advances in oto-rhino-laryngology
  4. Gastrointestinal stromal tumor. MedlinePlus Genetics
  5. Else T, Greenberg S, Fishbein L, 2008. Hereditary Paraganglioma-Pheochromocytoma Syndromes. GeneReviews

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Egy teszt. Egy életen át tartó válaszok.

Egy csomag, házhoz szállítva. Az egész genomját a diagnosztikai döntésekhez használt klinikai színvonalon szekvenáljuk. Orvos számára is használható jelentéseit 6–8 héten belül küldjük el a Genome Manager-be. Ezek tartósan érvényesek, és a tudomány fejlődésével frissülnek.

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