Table 4

Proposal for reporting of mutational results in GISTs

Information required

Optional information

- confirmation of the diagnosis GIST, based on morphological and immunohistochemical findings

- indicate the type of analysed material (primary tumor, metastasis, local relapse)

- indicate date of surgery if appropriate

- in case of a primary GIST indicate the individual risk classification according to consensus classification [27]

- according to [5]

- report on molecular findings for every exon analysed; indicate mutations on DNA and protein level in a standardized description according to [30]

- indicate homo-/hemizygous mutations

- indicate type of examination method (e.g. PCR and DNA sequencing)

- report on expected response to imatinib treatment based on the individual mutation type, according to recent recommendations;

- KIT exon 9: better response to 800 mg daily

- KIT exon 11: best response (at 400 mg daily)

- PDGFRA exon 18: according to special type of mutation (D842V resistant, deletions mostly responsive)

- report on prognostic relevance of the individual mutation type for clinical behaviour, according to recent data, e.g. [28]

- give an individual suggestion for adjuvant therapy, based on the individual mutation type and according to recent consensus recommendations

Merkelbach-Bruse et al. BMC Medical Genetics 2010 11:106   doi:10.1186/1471-2350-11-106