Rapid Review Flashcards
In what type of neoplasm are schiller-Duvall Bodies seen?
What is their characteristic histological appearance?
Seen in endodermal sinus tumor / Yolk Sac Tumor (germ cell tumors) of the ovaries.
Have a “gomerulus-like” appearance/structure
In what tumor would you see call-exner bodies
what is their histological appearance?
Call-exner bodies are seen in granulosa cell tumors of the ovaries.
They are gland like structuers with esoinophilic material
Where do you see Reinke Crystals?
Sertoli-Leydig cells tumors of the ovary
What is Meigs Sydrome?
With what pathology woud you classically see Meigs Syndrome?
Meigs Syndrome consists of the triad:
Right side pleural effusion, asciteis, ovarian mass
Seen in Thecoma-Fibroma neoplasms of the ovary
What is a tumor marker for dysgerminoma?
LDH serum
What would be a tumor parker for endodermal sinus tumor / yolk sac tumor?
AFP
What type of histology do choriocarcinoma consist of?
placental tissue with trophoblasts and syncyciotrophoblast with NO VILLI
synthetic estrogen DES is associated with what type of neoplasm?
clear cell adenocarcinoma of the vagina
Precursor : vaginal adenosis (remant of cervical type glandular epithelium in vagina/mucosa)
what is the number one CLINICAL sx of hypercalcemia?
VS, #1 cause of INCIDENTAL finding of hyperparathyroidism?
MALIGNANCY:
1) osteolytic metastases (tumore –> cytokines –>ostelysis –> maturation of osteclasts)
2) paraneoplastic syndrome via PTH-related protein –> bone reabsorption
INCIDENTAL FINDING - probably primary hyperparathyroidism (#1- parathyroid adenoma)
What is the most common cause of primary hyperparathyroidism?
Parathyroid adenoma
Other causes: primary hyperplasia (diffuse or nodular), parathyroid carcinoma
Which MEN are associated with parathyroid?
MEN 1
(Parathyroid, pituitary and pancreas)
MEN 2 A
(parathyroid, pheochromocytoma, medullalry thyroid carcinoma)
Causes of hypercalcium with…
INC PTH
DEC PTH
Hypercal + INC PTH ==> hyperparathyroidism, familial hypocalciruic-hypercalcemia (FHH)– MEN1/MEN2A/FHH
Hypercal + DEC PTH ==> hypercalcemia of malignancy, vit D tox, immobilization, thiazide diuretics, granulomatous dz (sarcoidosis)
Cause of secondary hyperparathyroidism:
chronic dec/chronic low levels of calcium
primarily due to RENAL FAILURE (dec phsophate excretion –> hyperphso –> dec serum calcium –> parathyroid simulation
OR: renal mass –> dec alpha-1-ydroxylase –> dec active vitamin D –> parathyorid stimulation
others: dec dietary calcium, steatorrhea, vit d deficiency
SX: similar to 1
Causes and symptoms of HYPOparathyroidism:
DEC PTH and DEC calcium
causes: (rare), surgical removal, autoimmune, AD gain function of CASR, familial mutation at PTH precursor peptide, congenital absence of parathyroid - de george syndrome 22q11 (thymic absence)
SX: tetancy, chvostek sign, trousseau sign, mental status changes, intracranial manifestations, occular disease, qt elongation, dental abnormalities
MEN 1 = _____ of ___ chromosome
it is a ____gene.
MEN 2A, _____mutation at ____ gene ____ chromosome
FHH__ gene that causes a cahnge in __ receptor
MEN 1 = inactivation of 11q13,
tumor suppressor gene
MEN 2A = activating mutaiton of RET (10q), tyrosine kinase R, proto-onco gene
FHH = auto dominant, gain of function/increases sensistivity of parathyroid calcium sensing receptor gene (CaSR) on 3q
In osteoporosis:
Bone mass is [INC/DEC]?
Mineralization?
Histo?
What does the DEXA measure? What would classify osteoporosis?
In osteoporosis:
Bone mass is DECREASED
Mineralization- NORMAL
Histo: DEC bone trabecule, despite normal mineralization
Clinical: fractures (minimal trauma), vertebral fractures (loss of height, kyphoscoliosis, Dowager’s hump), pain, pulmonary embolism, pneumonia
Most common sites: humerus, spine, hip, distal radius
Dx: DEXA scan- measures bone thickness, density; WHO T score: Osteoporosis:BMD or BMC 2.5SD or more below the young adult mean
How can a decrease in estrogen lead to osteoporosis?
DEC estrogen –> increase IL 1, IL 6, and TNF alpha by monocytes
DEC OPG
–> INC activity of osteoclast
How do corticosteroids affect bone??
inhibits osteoblastic activity by suppressing their action can lead to secondary osteoporosis
Rickets / Osteomalacia
How does it affect bone?
What is there an accumulation of?
What lab findings would you see?
Rickets/Osteomalacia:
Etiology = Vitamin D deficiency –> (vitamin D required for calcium / phosphate to mineralized osteoid laid down by osteoblast)
Bone mineralization defect
Accumulation of osteoid (unmineralized bone, soft bone)
DEC: vitamin D, calcium, phosphate, INC PTH, INC alk phos
What is the effect of severe hyperparathyroidism on bone?
INC PTH –> INC resorption
osteoclast tunnel in –> dissecting osteitis
–> With continued microfractures and associated hemorrhages there is an influx of macrophages and ingrowth of reactive fibrous tissue which results in the development of mass lesions known as “brown tumors”
HALLMARK: osteitis fibrosa cystica von Recklinghausen disease of bone
Lab findings in pagets?
ISOLATED ALK PHOS
everything else is normal
Clinical findings of osteogenesis imperfecta?
Brittle bone disease
AUTO DOM defect in type 1 collagen
defect in extracellular structural protein
CLINCIAL:
- Multiple fractures- mimic child abuse (NO BRUISING)
- Blue sclera- thinning of scleral collagen reveals underlying choroidal veins
- Hearing loss- bones of the middle ear fracture easily
Achondroplasia:
what is affected? …genetics?
Clinical presentation:
Path: impaired cartilage proliferation in the growth plate due to activating mutation in fibroblast growth factor receptor 3 (FGR3)- AD-
80% new mutations
Clinical: short extremities with normal-sized head and chest (dwarfism)- poor endochondral bone formation, intramembranous bone formation is not affected
Osteoma:
typical location
what syndrome is associated with osteoma’s?
1.Benign tumor of bone
2.Commonly arises on the surface of facial bones
- Tumor like mass of abnormally dense bone
- Almost exclusively in the skull- paranasal sinus & facial bones
- 4th-5th decade
3.Associated with Gardner Syndrome (osteomas, epidermal cysts, fibromatoses, and colonic adenomatous polyposis)
Gardner Syndrome
Associated gene
APC (autosomal dominant)
Osteomas of the skull
- Tumor-like mass of abnormally dense bone
- Epidermal cysts
- Fibromatoses
- Thyroid Cancer
multiple hereditary exostosis syndrome
AUTO DOM
EXT1 or EXT 2 genes
multiple osteochondromas develop in childhood. Patients may also have bowed, shortened bones. With respect to pathogenesis there are germline loss of function mutations in EXT1 or EXT 2 genes which result in defective enchondral ossification “setting the stage” for abnormal growth. Patients are at risk for the development of chondrosarcoma or other sarcomas.
McCune-Albright Syndrome
McCune-Albright Syndrome - polyostotic fibrous dysplasia (multiple bones affected) + endocrinopathies such as precocious puberty, hyperthyroidism, pituitary adenomas secreting growth hormone and café-au-lait skin pigmentation (usually unilateral macular pigmented skin). Associated with mutations of the GNAS gene.
Recurrent fractures may lead to deformities of the lower extremities
Where is the enzyme 11-b HSD1 and 2 expressed? What is their main function?
11b-HSD1 = liver, adipose tissue and brain
ACTIVATES a pro-drug (ie- cortisone —> cortisol)
one is simply activating
11b-HSD2 = kidney, salivary gland, colon
Inactivates a drug (ie- cortisol –> cortisone)
two to one is stepping down one so you are inactivating
What affects does cortisol have on calcium?
decreases calcium absorption
–> in cortisol deficiency –> hypercalcemia [abd pain, n/v, anorexia]
When would a HPA axis deficiency produce hyperpigmentation?
when the axis is working to INC teh ACTH –> INC of POMC gene –> MSH gene also gets produced = hyperpigmentation
primarily seen with primary adrenal insufficiency due to the lack of negative feedback on the anterior pituitary (lack of feedback INC POMC)
What are some symptoms of primary adrenal insufficiency?
Impaired brain/kidney/heart fxn
hypotension
musc weakness
abd pain, N/V, anorexia
INC pigmentation
hypOnatremia:
Salt wasting/craving
Confusion
musc weakness
appetitie loss
dehydration
hyperkalemia:
cardiac arrythmia
musc wasting
malase
How canyou assess whether you have overdosed a patient with cortisol?
Excessive Dosing:
weight gain, facial plethora, hypertension, euphoria
and other “__Cushingoid symptoms__”
in a patient who suffers from adrenal insufficiency, when should you increase their hormone replacement treatment?
minor illness, surgery, pregnancy
Which wart is associated with HPV?
Exophytic Condyloma
“Condyloma Acuminatum
