Table 2 Clinicopathological and molecular relevant data of the patients with PETs harboring TERT promoter mutations.

From: TERT promoter mutations in pancreatic endocrine tumours are rare and mainly found in tumours from patients with hereditary syndromes

Case number

Gender

Age1

Location

PET type

Size2

Microadenomas

Functional status

Germline mutations

pT3

pT4

Lymph node metastasis

Distant metastasis

Follow-up5

Status at last follow-up

1

F

39

body

NET G1

44

yes

insulinoma

MEN1 p.Q453X

3

3

N1

M0

107

AWD

2

F

55

body

NET G2

30

no

non functional

-6

2

2

N1

M0

9

DOD

3

M

51

tail

NET G1

30

yes

insulinoma

MEN1 p.A572V

2

3

Nx

M0

124

DOC

4

F

32

tail

NET G2

94

yes

non functional

VHL p.S65W

3

3

Nx

M1 (liver)

46

DOD

  1. 1years;
  2. 2mm;
  3. 3according to ENETS classification;
  4. 4according to UICC/AJCC classification; 5months; 6No MEN1 or VHL mutations were detected.
  5. AWD – alive without disease; DOD – death of disease; DOC – death of other causes. Clinical presentations: Case 1: Primary hyperparathyroidism and insulinoma. Known family history, both the father and a sister with pancreatic tumour, a pituitary adenoma with prolactin production and primary hyperparathyroidism; Case 3: Recurrent episodes of hypoglycaemia, associated with insulinoma. No other crises following surgery. Posterior history of recurrent upper gastrointestinal haemorrhage associated with gastric ulcers. The presence of gastrinoma has never been confirmed. In both MEN1 cases there was no clinical or laboratorial evidence of other functioning-type NET. Case 4: bilateral retinal angiomatosis, cervical spinal hemangioblastoma, endolymphatic sac tumour, hepatic haemangioma and multiple renal cysts.
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