PAEDIATRIC GIST

(See also "PAWS-GIST" on the menu bar)

Paediatric GIST is an extremely rare sub-variant of GIST, which in many respects differs from adult GIST: paediatric GIST is more prevalent among girls and young women than among boys and young men. In the main, the illness starts in the stomach, where several primary tumours can present themselves in one go. There are more metastases in the lymph nodes than in the case of adults. In cases where the genetic make-up of the tumour cells is examined (mutation analysis), typically no mutations are found in either of the genes which are frequently altered in adult patients (KIT and PDGFRA). The doctors then talk about “Wild type GIST". Imatinib seems on the whole to work less effectively on patients with paediatric GIST than it does for adult patients. But there is also some good news: the tumours often grow more slowly and behave in a less aggressive way than their counterparts in adults. Young adults suffering from GIST can either have the paediatric form of GIST or the form more usually found in older adults.

A few paediatric GIST patients may also have what is known as "Carney's Triad" or the " Carney-Stratakis-Syndrome". In both these illnesses, further tumours are found along with the paediatric GISTs. In cases of Carney-Stratakis-Syndrome there are also tumours originating in the nervous system. These are called paragangliomas. In patients with Carney-Triad, benign lung tumours (pulmonary chondromas) are observed along with GIST and paragangliomas) as well as, in some isolated cases, benign tumours of the suprarenal gland, (adenomas) and benign tumours of the oesophagus (leiomyomas). Patients just suffering initially from paediatric GIST may develop these other types of tumour over time.  While Carney-Stratakis-Syndrome seems to be hereditary, it is not thought that the same applies to Carney-Triads.

Because paediatric GIST is so rare we still know relatively little about the three illnesses: paediatric GIST, Carney-Stratakis-Syndrome and Carney-Triad. However there are some centres where studies are being carried out, notably in Bethesda in the USA. Since their first meeting in June 2008, which was attended by just 14 patients from around the World, the scientists taking part have established the Consortium for Pediatric and Wildtype GIST Research, CPGR.

The research consortium is open to other doctors and scientists interested in Paediatric and Wildtype GIST, and data is being collected from as many sources as possible. The scientists who took part will meet together twice a year in the USA at the National Institute of Health.

PAWS-GIST - A UK INITIATIVE

Paediatric, Adolescent, Wild-type, Syndromic GIST

GIST Support UK is also (November 2010) hoping to encourage the establishment of a clinic in the UK for PAWS-GIST patients. This clinic will probably meet once or twice a year and its objective will be to develop greater expertise in treating this rare group of patients. We hope that the clinicians involved will act as focus group for oncologists all over the UK.

A small group of PAWS-GIST patients and carers has already started raising funds for this initiative and for research.

We have also set up a Mailtalk system (PGISTUK). This is primarily for the mutual support of young patients and their carers and it works in the same way as our existing Mailtalk system. There is also a Facebook page which young patients may like to use.

If you are affected by PAWS-GIST and would like to be involved with any of these initiatives do contact us.

Posted: 02/12/2010

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