Endo Neoplasms II Flashcards
pituitary adenomas are categorised by
**size **(micro <10mm macro >10mm)
functional (secrete hormone) / non-functional (non-secreting)
Cell origin affected - somatotrph, thyrotroph, lactotroph, gonadotroph, corticotroph
pituitary adenomas are benign or malignant?
benign
mutation of lactinotroph adenoma
derived - PIT-1 lineage
sporadic - MEN-1
hypogonadism
lack of libido
amennorhoea
galactorrhoea
gyecomastica
lactotrophic adenoma (prolacin)
treatment of lactotrophic adenoma
bromocriptine
cabergoline
mutation of somatotroph adenoma
GNAS 1
Growth hormone has a negative feedback on
glucose
IGF-1
what is growth hormone effect on sodium
antinaturetic
sodium retention
hyperglycaemia, hypertension
headache, visual defects
organomegaly, myopathy
somatotroph adenoma
somatotroph adenoma increases the risk of
GIT cancers
Heart failure
mutation of corticotroph adenoma
transcription factor TPIT
30-40yo female
high cortisol
cushing disease
microadenoma <10mm
corticotroph adenoma
headache, visual disturbances
high ACTH, low cortisol
increased MSH - pigmentation
nelson syndrome
craniopharyngiomas develop from
Rathke’s pouch
ectoderm buds
supratentorial
children
cystic
dystrophic calcification
mass effects
craniopharyngioma
gene mutation of craniopharyngioma
CTNNB1
B catenin gene mutation
cystic tumour with haemorrhage
dystrophic calcification
motor oil - cholesterol rich
craniopharyngioma
islands of epithelium
peripheral nuclar palasaiding
loose areas stellate reticulum
adamantinomatous craniopharyngioma
fibrovascular core
peripheral palasaiding squamous cells
spongy reticulum
papillary craniopharyngioma
thyroid nodules - malignant features on RIU
solitary
younger pt
male
cold nodule
female
non-functional
hot nodule
can be a toxic adenoma
follicular thyroid adenoma
solitary spherical
encapsulated
uniform follicles
contain colloid
follicular thyroid adenoma (benign)
mutations of thyroid carcinomas:
papillary, follcular, medullary, anaplastic
Papillary = RET/PTC + radiation, BRAF
Follicular = RAS, PAX8-PPAR-y rearrangement, PIK3CA & PTEN
Medullary = MEN2, RET
Anaplastic = P53
20-30yo female
radiation / hashimotos
RET translocation
lymphatic invasion
orphan annie eye nuclei
papillary thyroid carcinoma
40-50yo female
iodine deficiency
N-RAS mutation
painless, cold nodules
capsular / vascular invasion
follicular thyroid carcinoma
medullary carcinomas derived from which cells
parafollicular C cells
MEN2
mass in neck
secretes calcitonin
c cells
amyloid accumulation
congo red stain
medullary thyroid carcinoma
65yo
inactivation P53
rapidly enlarging neck mass
inavdes neighbouring tissues
often fatal
anaplastic thyroid carcinoma
diarrhoea
flushing
itching
are a result of which thyroid tumour & secretion of what…
medullary carcinoma
calcitonin secretion
MEN2A MEN2B
physical findings of thyroid tumours
fixed nodules
hoarseness
cervical lymphadenopathy
tests for thyroid cancer diagnosis
radioactive iodine uptake
fine needle aspiration
core tissue biopsy
solitary nodule
women 50-70yo
overexpression cyclin D1 gene
MEN syndrome
parathyroid adenoma
4 glands enlarged
HRPT2 parafibromin gene
retinoblastoma locus
vascular invasion
bands dense fibrous tissue
parathyroid hyperplasia
4 glands enlarged
nodular / diffuse
clear cell hyperplasia
MEN syndrome
parathyroid carcinoma
unilateral, tumour of chromafin cells
produce catecholamines
headache, sweating, tachycardia
pheochromocytoma of adrenal medulla
increased metanephrine
increased VMA
lack suppression of NOR with clonidine
hyperglycaemia
neutrophilic leucocytosis
pheochromocytoma of adrenal medulla
LOF mutation in succinate dehydrogenase subunit
micro: zellballen, nuclear salt & pepper
pheochromocytoma of adrenal medulla
adrenal medulla & organ or Zuckerkandl contain N-Methyltransferse, so produce
norepinephrine AND epinephrine
(N-M enzyme converts nor –> epi)
Bladder wall, posterior mediasinum don’t produce N-Methyltransferase, so produce
norepinephrine NOT epinephrine
(N-M enzyme converts nor –> epi)
what mutations have predisposition to pheochromoctyoma
von Hippel-Lindau syndrome
MEN -1
NF-1
what are the metabolic products of EPI and NOR
metanephrine
vanillylmandelic acid (VMA)
list some hyperadrenergic (adrenal) symptoms
pain - headache
pressure - raised BP
perspiration
palpitation
pallor
name the 4 cell types in islet of langerhans
Alpha cell = glucagon
Beta cell = insulin
Delta cell = somatostatn
PP cell = pancreatic polypeptide
what is the pathway of insulin metabolism
Beta cells –> preproinsulin –> proinsulin –> insulin –> c-peptide
what pancreatic tumour is non-malignant
insulinoma
that 3 major genes contribute to pancreatic tumours
MEN-1
PTEN
ATRX, DAXX
3 clinical syndromes associated with functional pancreatic endocrine neoplasms
hyperinsulinism
hypergastrinaemia - Zollinger-Ellison syndrome
MEN syndrome
benign
hyperinsulinaemia precipitated by exercise/fasting
decreased insulin
increased c peptide
insulinoma
low fasting blood glucose
hypoglycaemia
neurological symptoms
relief of symptoms with glucose admin
insulinoma
Whipples triad
giant islets
preserved cords of monotonous cells
abundant amyloid deposition
insulinoma
malignant
post-menopausal
high plasma glucose
nerolytic migratory erythema
glucagonoma
cutaneous paraneoplastic syndrome
painful f=pruritic crusty erythematous papules
brone coloured induration
palues & necrosis
necrolytic migratory erythema
feature of glucagonoma
malignant
secretes gastrin
MEN1
abdominal pain, diarrhoea
gastrinoma
zollinger ellison syndrome is associated with what tumour
gastrinoma
abdominal pain
heartburn
Diarrhea
Nausea and vomiting
weight loss
tarry stool
Zollinger Ellison Syndrome - assoc. with gastrinoma
secretion injection test - what is seen in ZES
dramatic rise in gastrin levels (G cells normally inhibited)
watery diarrhoea, hypokalaemia, anchlorydria
tea coloured odourless urine
VIPoma
vasoactive intestinal peptide
diabetes mellitus
cholelithiasis
steatorrhoea
hypochlorhydria
somatostatinoma
