Endoscopic resection of early-stage SMAD4 juvenile polyposis does not prevent disease spreading in the stomach

To the best our knowledge, juvenile polyposis with a SMAD4 germline mutation is a rare disease [1] [2], and its precise endoscopic aspect has been described in the colon [3] but not in the stomach. The natural history of this particular polyposis has not been well described.

We report a case of early-stage SMAD4 polyposis in a 25-year-old woman who was also receiving treatment for Rendu–Osler disease. It was an early-stage SMAD4 polyposis with a single large lesion ([Fig. 1]) surrounding the cardia. According to the endoscopic aspect in white-light imaging, the lesion was nodular (Paris classification Is). Using narrow-band imaging (Olympus, Tokyo, Japan), dual focus, and acetic acid dyeing, the mucosal pattern appeared regular with large pits consistent with hyperplasia. As the lesion had been detected at an early stage, we decided to attempt endoscopic submucosal dissection (ESD) to remove all of the polyp with margins in order to stop the evolution of the disease ([Video 1]). En bloc resection was achieved and appeared to be endoscopically complete; the resected specimen measured 8 × 3 cm. Histology confirmed the hyperplastic nature of the polyp with free margins (focal contact in few points).

Fig. 1 Endoscopic aspect of the initial lesion surrounding the cardia and of the resected area after endoscopic submucosal dissection (ESD). a White-light imaging. b Narrow-band imaging (NBI). c NBI and acetic acid. d The resection site after complete en bloc ESD.

Video 1 SMAD4 juvenile polyposis aspect before and after endoscopic submucosal dissection of the main initial lesion.

During the follow-up period, the dissected area had a depressed aspect without recurrence at the scar site. However, the hyperplastic polyp recurred all around the previous resection site and spread all around the cardia ([Fig. 2]).

Fig. 2 Endoscopic aspect of the recurrence all around the site of the previous resection. a, b White-light endoscopy (arrow on the central scar). c Blue-laser imaging. d Linked-color imaging.

In parallel, a second small juvenile polyp was present in the fundus and was described with blue-laser imaging and linked-color imaging. The lesion was small (< 5 mm) and presented the same regular mucosal pattern with hyperplastic features ([Fig. 3], [Fig. 4]).

Fig. 3 Aspect of a small gastric polyp with hyperplastic aspect. a White-light endoscopy. b, c Blue-laser imaging. d Linked-color imaging mode.

Fig. 4 Histology of the lesion with hyperplastic features.

SMAD4 polyposis at an early stage seems to begin around the cardia but endoscopic resection, even when complete, does not prevent the lesion from spreading all around the cardia.

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• References

• 1 Chung AD, Mortelé KJ. Combined juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia (JPS/HHT) with MRI and endoscopic correlation. Clin Imaging 2018; 54: 37-39
• 2 Iyer NK, Burke CA, Leach BH. et al. SMAD4 mutation and the combined syndrome of juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. Thorax 2010; 65: 745-746
• 3 Takeda K, Kudo S-E, Mori Y. et al. Magnifying chromoendoscopic and endocytoscopic findings of juvenile polyps in the colon and rectum. Oncol Lett 2016; 11: 237-242