Table 2.
Gastrointestinal and pancreatic lesions in patients with McCune-Albright Syndrome
| Patient | Age* | Location | Diagnosis | GNAS-lesional tissue | GNAS-normal tissue |
|---|---|---|---|---|---|
| 1 | 20 | Proximal esophagus | Gastric heterotopia/metaplasia | R201C | – |
| Stomach body | Fundic gland polyp | WT | – | ||
| Major papilla | Hamartomatous-type polyp | WT | WT | ||
| Minor papilla | Gastric heterotopia/metaplasia | WT | – | ||
|
| |||||
| 2 | 22 | Proximal stomach | Gastric hyperplastic polyps | WT | – |
| Duodenal bulb | Gastric heterotopia/metaplasia | R201C | WT | ||
| Duodenum | Gastric heterotopia/metaplasia | WT | WT | ||
| Ampulla | Gastric heterotopia/metaplasia | WT | – | ||
|
| |||||
| 3 | 46 | Gastroesophageal junction | Gastric hyperplastic polyp | R201H | – |
| Duodenum | Gastric heterotopia/metaplasia | R201H | – | ||
|
| |||||
| 4 | 55 | Proximal esophagus | Gastric heterotopia/metaplasia | WT | WT |
| Proximal stomach | Multiple adenomatous lesions with high grade dysplasia# | R201C | – | ||
| Stomach | Fundic gland polyps | WT | – | ||
| Stomach body | Foveolar hyperplasia | R201C | – | ||
| Duodenum | Gastric heterotopia/metaplasia | WT | – | ||
| Ampulla | Gastric heterotopia/metaplasia | R201C | – | ||
| Pancreas | Intraductal papillary mucinous neoplasm with low grade dysplasia | R201C | WT | ||
|
| |||||
| 5 | 27 | Duodenum | Gastric heterotopia/metaplasia with adjacent neuroendocrine hyperplasia | R201H+ | WT |
| Pancreas | Intraductal papillary mucinous neoplasm with high grade dysplasia | R201H | – | ||
|
| |||||
| 6 | 19 | Proximal esophagus | Gastric heterotopia/metaplasia | R201C | – |
| Proximal stomach | Gastric hyperplastic polyps | WT | – | ||
| Proximal duodenum | Gastric heterotopia/metaplasia | R201C | – | ||
| Duodenum | Gastric heterotopia/metaplasia | R201C | – | ||
| Ampulla | Gastric heterotopia/metaplasia | R201C | WT | ||
|
| |||||
| 7 | 50 | Proximal esophagus | Gastric heterotopia/metaplasia | R201C | – |
| Gastroesophageal junction | Intestinal metaplasia | WT | – | ||
| Distal esophagus | Gastric hyperplastic polyp | WT | – | ||
| Duodenum | Gastric heterotopia/metaplasia | R201C | – | ||
| Duodenum | Gastric heterotopia/metaplasia | R201C | R201C | ||
*
at first procedure at JHH;
#
see text for more complete description of these unusual lesions;
+
GNAS R201H mutation identified in gastric heterotopia but not in separately analyzed neuroendocrine hyperplasia