Neoadjuvant imatinib in a locally advanced gastrointestinal stromal tumour (GIST) of the rectum: a rare case of two GISTs within a family without a familial GIST syndrome

Abstract

Gastrointestinal stromal tumours are rare tumours of the gastrointestinal tract. We describe the case of a 57-year-old man with a locally advanced gastrointestinal stromal tumour of the rectum. We started Gleevec. The pathological examination documented a complete pathological response. An already described mutation in KIT exon 11 was observed in the gastrointestinal stromal tumour of the rectum. At the same time as the treatment of our patient, his brother received a neoadjuvant therapy for a locally advanced rectal adenocarcinoma. During the surgical procedure, a gastric lesion was excised and the pathological examination showed a low-grade gastrointestinal stromal tumour. We analysed DNA extracted from the tumoral mass and normal tissue of both patients. No mutations, either in KIT or in PDGFRA, were detected in the subserosal stomach gastrointestinal stromal tumour. After 18 months, both patients are free from recurrence. Our clinical case suggests that preoperative imatinib therapy may enable radical surgery in patients with an inoperable disease.

Pathological complete response in advanced gastric stromal tumor after imatinib mesylate therapy: a case report

“…Complete pathological response in resection specimen is rarely reported. After a wide study of the literature, only nine clinical cases have been published of reports of complete pathologic response after imatinib therapy in locally advanced or metastatic GIST [4,5]. Mutational analysis ( KIT/platelet-derived growth factor receptor α (PDGFRA) receptor mutations) has predictive value for sensitivity to molecular targeted therapy as well as prognostic value, so that its inclusion in the diagnostic work-up of all GISTs is recommended [2].…”

A couple with gastrointestinal stromal tumor (GIST)

“…Mandala et al. 17 reported a diagnosis of GIST in two brothers without a familial GIST syndrome but a mutational analysis of their tumors revealed a C‐KIT mutation in only one of these cases. Our patients seem to be the only report of C‐KIT mutated GIST occurring in a couple who are not related by blood and this therefore raises questions about possible carcinogens.…”

Treatment Options for Gastrointestinal Stromal Tumors

“…Since rectal GISTs are often advanced, the role of neoadjuvant Imatinib in rectal GIST has also been evaluated. It has been proposed that preoperative Imatinib therapy can contribute to reduction of the size in large rectal GISTs, improving the chances of successful radical surgery and therefore decreasing the risk of morbidity and mortality (Hassan et al, 2006;Hou et al, 2009;Machlenkin et al, 2010;Mandalà et al, 2007).…”