Table 3 Previous reports of neuroendocrine tumors in individuals with a clinical or clinical and molecular diagnosis of TSC
Reference | Summary | Mutant genea |
|---|---|---|
Pituitary NET | ||
[21] | Case report: 12 yo male with a GH-oma and acromegalic gigantismo. | NA |
[22] | Case report: 25 yo female with hyperprolactinaemia, amenorrhoea and galactorrhoea after delivery of 3rd child. | NA |
[23] | Case report: 32 yo male with an ACTH-oma and Cushingoid features. | NA |
[24] | Case report: 13.5 yo male with an ACTH-oma, short stature, abnormal distribution of fat tissue and rounded face, plethora and acne. | NA |
Parathyroid NET | ||
[25] | Case report: 20 yo female with parathyroid hyperplasia, and on autopsy multiple endocrine adenomatosis affecting, in addition to the parathyroid, the pituitary (a non-functioning pituitary adenoma), adrenals and pancreas (islet cell tumour). | NA |
[26] | Case report: 14 yo female with a parathyroid adenoma, anorexia, occasional nausea and vomiting, polydipsia, polyuria, constipation and generalised osteoporosis | NA |
[27] | Case report: 15 yo male with a parathyroid adenoma and acute pancreatitis | NA |
Rectal NET | ||
[28] | Case report: 18 yo female with Proteus syndrome and TSC, subcortical tubers, developmental delay, seizure disorder, bilateral renal angiomyolipomas, ventricular rhabdomyomas, choledochal cyst, epidermal inclusion cysts, skin tags, synchronous well-differentiated L-cell rectal neuroendocrine tumor and leiomyomatosis-like lymphangioleiomyomatosis of the rectum. | TSC2 |
Pancreatic NET | ||
[29] | Case report: 24 yo female with insulinoma and symptomatic hypoglycaemia and novel onset of seizures | NA |
[30] | Case report: 23 yo male with insulinoma and recurrent seizures presented after 15 years of being seizure free | NA |
[31] | Case report: 34 yo male with a pancreatic gastrinoma, presenting with reflux esophagitis and massive weight loss | NA |
[32] | Case report: 28 yo male with insulinoma and behavioral changes characterised by episodes of agitation and, at other times, lethargy | NA |
[33] | Case report: 18 yo female with insulinoma with symptomatic hypoglycaemia. | NA |
[34] | Case report: 12 yo male with a malignant islet cell tumour | TSC2 (nonsense) |
[35] | Case report: 43 yo male with insulinoma and episodes of Episodes of sweating and dizziness. | NA |
[36] | Case report: 6 yo male with a malignant islet cell tumour of pancreas | TSC2 (nonsense) |
[37] | Case report: 39 yo male with a pancreatic islet cell tumor and lichenified hyperpigmented plagues (paraneoplastic process) | TSC2 (1 bp ins) |
[38] | Case report: 31 yo male with TSC, multiple congenital subependymal nodules, bilateral cortical tubers, seizures and a malignant (metastatic) pancreatic neuroendocrine tumor. | NA |
[39] | Description of 5 patients with TSC (clinical diagnosis) and pancreatic tumors, 2 of them confirmed pancreatic neuroendocrine tumors, localized in the pancreatic tail (5 yo male with a 26 mm lesion and 12 yo male with a 10 mm lesion). | NA |
[40] | Case report: 35 yo female with TSC, adenoma sebaceum, shagreen patch and hypopigmented macules, bilateral renal angiomyolipomas and Hurthle cell adenoma. Multiple benign hamartomatous and inflammatory-type polyps in the cecum, sigmoid colon, and rectum. Pancreatic well-differentiated neuroendocrine tumor. | TSC1 (2 bp del) |
Pheochromocytoma | ||
[41] | Case report: 29 yo female with a pleomorphic adrenal pheochromocytoma, recurrent fever and abdominal pain. Abdominal recurrence involving the spinal cord | NA |
Carcinoid tumor | ||
[42] | Case report: 34 yo female with renal cysts and a bronchial carcinoid presenting by hemoptysis 2 years after diagnosis of “sporadic” lymphangiomyomatosis (LAM). On post-mortem examination LAM was observed in the lungs, mediastinal lymph nodes, kidneys and uterus. LOH for the TSC1 mutation observed in several tissues but not in the carcinoid tumor. | TSC1 (nonsense) |