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146 Cards in this Set
- Front
- Back
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At what age do you usually find retinoblastoma?
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Retinoblastoma
usually under 2 years of age |
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How often is retinoblastoma bilateral?
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40% of the time
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Does retinoblastoma usually kill you?
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No,
Retinoblastoma has a 93% five year survival |
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What gene causes retinoblastoma?
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RB1 gene
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What is the penetrance of the RB1 gene?
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greater than 90%
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Those with retinoblastoma are at risk for second cancers. Incidence is reported to be anywhere from 15 - 68%. What kinds of second tumors are these kids at risk for?
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Secondary cancers s/p retinoblastoma:
Sarcomas Melnomas Brain Tumors |
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If you found a child with retinoblastoma and the RB1 mutation but both parents are unaffected would you test the parents for the gene?
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Yes,
There are some with known RB1 mutation who don't develop the phenotype. We would test the parents. |
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Where do you look for the RB1 gene mutation?
*the tumor *the germline |
Look in the tumor first, then go look in the germline
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Multiple Endocrine Neoplasia Type I
Is it: *benign *malignant *either |
Either
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What type of inheritance is displayed by the MEN 1 gene?
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Autosomal Dominant
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(Multiple Endocrine Neoplasia Type I)
How do you diagnose MEN I? |
Either
two or more endocrine tumors in an individual who tests positive for the mutation. Or one endocrine tumor and one or more family members diagnosed with MEN I |
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(Multiple Endocrine Neoplasia Type I)
Name the "three P" endocrine glands that are affected by MEN 1: |
Parathyroid
Pancreas Pituitary |
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(Multiple Endocrine Neoplasia Type I)
What do the parathyroid glands do? |
Secrete PTH (parathyroid hormone)
which controls the amount of calcium that is in the blood and in the bone. |
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(Multiple Endocrine Neoplasia Type I)
What happens with the Parathyroid gland in MEN 1? |
Increased PTH leads to
Increased Calcium which leads to Kidney damage |
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(Multiple Endocrine Neoplasia Type I)
What type of symptoms would you see in MEN 1? |
Hypercalcemia
Muscle weakness Pain in bones Vomiting Lethargy |
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(Multiple Endocrine Neoplasia Type I)
What is the treatment for severe hyperparathyroidism in MEN I? |
Removal of 3 of the parathyroid glands and most of the 4th.
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(Multiple Endocrine Neoplasia Type I)
How many people with MEN 1 get hyperparathyroidism? |
100% by age 50
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(Multiple Endocrine Neoplasia Type I)
Is hyperparathyroidism also seen in MEN 2? |
Yes, but it is more frequent and earlier onset in MEN I
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(Multiple Endocrine Neoplasia Type I)
What is the post operative care for those who have had surgical removal of the parathyroid glands? |
Regular testing serum blood Calcium (can developed recurrent hyperparathyroidism)
Daily supplements of calcium and vitam D to prevent hypocalcemia |
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(Multiple Endocrine Neoplasia Type I)
What are primary purposes of the pancreas? |
Secrete hormones (insulin, glucagon, somatostatin etc.)
Control Blood sugar and glucose metabolism control other GI endocrine cells |
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(Multiple Endocrine Neoplasia Type I)
What kinds of tumors can occur with MEN 1 in the pancreas? |
Gastrinomas can occur in both the pancreas and the small intestine.
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(Multiple Endocrine Neoplasia Type I)
What do gastrinomas do? |
They secrete gastrin which increases stomach acid and causes ulers.
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What is Zollinger-Ellison Syndrome?
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A condition where gastrinomas
(tumors that are sometimes malignant, and sometimes not malignant) are formed in the pancreas and small intestine. |
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How often is Zollinger-Ellison Syndrome related to MEN 1 mutations?
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About 25% of the time.
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(Multiple Endocrine Neoplasia Type I)
What is the treatment for gastrinomas? |
PPI - Proton Pump Inhibitors, medications by mouth.
Less often the tumors might be removed, but they are hard to find. In the past they used to remove the stomach, not so much anymore. |
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(Multiple Endocrine Neoplasia Type I)
How often is increased pituitary activity seen in MEN 1? |
About 25% of the time.
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(Multiple Endocrine Neoplasia Type I)
What kind of pituitary hyper-activity is seen in MEN 1? |
hyperprolactinemia, caused by prolactinomas
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(Multiple Endocrine Neoplasia Type I)
What are the signs and symptoms of hyperprolactinemia? |
Galactorrhea (abnormal breast milk production)
Vision Problems Headaches Amenorrhea & Infertility in women Decreased sex drive and infertility in men |
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(Multiple Endocrine Neoplasia Type I)
How is hyperprolactinemia treated? |
Dopamine agonist which decreases the prolactin by shrinking the tumor.
Surgery if the tumor is large or if it does not respond to the medication. |
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(Multiple Endocrine Neoplasia Type I)
With MEN 1 we screen for gastrinomas. How would we do this? |
Gastrin level yearly
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(Multiple Endocrine Neoplasia Type I)
With MEN 1 we screen for parathyroid adenoma. How would we do this? |
Draw Calcium level yearly
and Parathyroid Hormone yearly |
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(Multiple Endocrine Neoplasia Type I)
With MEN 1 we screen for tumors in the anterior pituitary. How would we do this? |
Draw prolactin level yearly
Draw IGF 1(Insulin-like growth factor 1) yearly MRI of the brain every 3 years. |
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(Multiple Endocrine Neoplasia Type I)
What type of inheritance does MEN 1 display? |
Autosomal Dominant
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(Multiple Endocrine Neoplasia Type I)
What kind of protein product is made by the MEN 1 gene and what does it do? |
Menin
Tumor suppressor protein Sensitivity to alkylating agents |
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(Multiple Endocrine Neoplasia Type I)
How often is MEN1 a de novo mutation? |
10%
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(Multiple Endocrine Neoplasia Type I)
How penetrant is the MEN 1 gene? |
50% by age 20
95% by age 40 |
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(Multiple Endocrine Neoplasia Type 2)
What is the biggest cancer risk for MEN2? |
MEDULLARY Thyroid Cancer (MTC)
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(Multiple Endocrine Neoplasia Type 2)
What are the 3 subtypes of MEN 2? |
MEN 2A
MEN 2B FMTC (Familial Medullary Thyroid Cancer) |
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(Multiple Endocrine Neoplasia Type 2)
What risk does a person with any kind of MEN2 have for developing Medullary Thyroid Cancer (MTC)? |
MTC 95%+ lifetime risk
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(Multiple Endocrine Neoplasia Type 2)
What is the difference in the ages of people who get Medullary Thyroid Cancer (MTC) between MEN2A and MEN2B individuals? |
MEN2A = MTC in early Adulthood
MEN2B - MTC in early Childhood Think A= Adult/ B= Baby |
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(Multiple Endocrine Neoplasia Type 2)
With MEN2, what else do we see in both MEN2A and MEN2B besides Medullary Thyroid Cancer (MTC)? |
peochromocytoma
About 50% of individuals will develop pheo with both MEN2A and MEN2B |
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With MEN 1 we see Hyperparathyroidism 100% by age 50.
Do we see hyperparathyroidism with MEN2A or MEN2B? |
Yes,
About 20-30% in MEN2A Very Rare in MEN 2B |
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(Multiple Endocrine Neoplasia Type 2)
With MEN2B what do we see that we don't see in MEN2A (think dysmorphology) |
Tall/ Slender marfanoid type body habitus.
Mucosal Neuromas - benign tumors on the lips and tongue Ganglioneuromatosis Megacolon |
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(Multiple Endocrine Neoplasia Type 2)
MEN2 is highly associated with medullary thyroid cancer (MTC = 95%). What if we see a family that has 2 or more family members with MTC, but we are not seeing any pheochromocytoma or parathyroid disease? |
They meet the criteria for FMTC
Familial Medullary Thyroid Cancer |
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(Multiple Endocrine Neoplasia Type 2)
What kind of inheritance is seen wit MEN2? |
Autosomal Dominant
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(Multiple Endocrine Neoplasia Type 2)
What gene is mutated in MEN 2? |
The RET gene (10q11.2)
AN ONCOGENE |
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(Multiple Endocrine Neoplasia Type 2)
True or False? With the RET oncogene you can predict the phenotype if you know the specific gene mutation? |
True
The pehnotype and genotype are really tight with the RET oncogene. |
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(Multiple Endocrine Neoplasia Type 2)
If a family is found to carry the MEN 2 gene. What would we do for the gene mutation carriers? |
Prophylactic thyroidectomy.
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(Multiple Endocrine Neoplasia Type 2)
Untreated pheochromocytoma can lead to severe elevations in blood pressure. What complications can occur from severe HTN? |
Stroke
Kidney Failure Heart Failure Vision Problems Death |
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(Multiple Endocrine Neoplasia Type 2)
With pheochromocytoma blood pressure can be uncontrolled. What events can increase the problem? |
Accidents
Surgery Childbirth Stress (physical or emotional) |
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(Multiple Endocrine Neoplasia Type 2)
With MEN2 people have to be screened for pheochromocytoma. how is this done? |
Annually check:
*24 hour urine for catecholamines *serum catecholamines *CT or MRI (rapid total body MRI from base of skull to the pelvis) |
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If someone has pheochromocytoma
what kinds of things are on your differential diagnosis? (5) |
*MEN2A
*MEN2B *von Hippel Lindau *Neurofibromatosis type 1 *Heriditary Paraganglioma/ Pheochromoctyoma (PGL/ PCC) *Isolated Pheochromocytoma |
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The following diseases can cause pheochromocytoma.
If we see a solitary case of any of these diseases in a family and no other cases would we call it a heritible condition? (and why) MEN2A * Men2B * von Hippel Lindau Neurofibromatosis type 1 PGL/ PCC * Isolated Pheochromocytoma |
Yes
Because all of these conditions are Autosomal Dominant. |
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What surgery is critical for MEN 2 carriers to have while in childhood?
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thyroidectomy
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What do we see elevated in the blood
in patients who have Medullary Thyroid Cancer? (MTC) |
calcitonin
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If a patient was having annual screening that included PTH, Calcium, Epinepherine and Calcitnonin, what gene mutation would you suspect they have?
*MEN1 *MEN2 |
MEN2
PTH and Calcium are for Parathyroid tumors (seen in both MEN1 and MEN2) Epinepherine is for the pheochromocytoma (only MEN2 -A&B-) Calcitonin is for the Medullary Thyroid Cancer (MTC) (only in MEN2) |
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If a patient were being screened annually for PTH, Calcium, Prolactin and Gastrin, what gene mutation would you suspect they have?
*MEN1 *MEN2 |
**MEN1
The PTH and Calcium are for the parathyroid tumor (both MEN1 and MEN2) The prolactin is for pituitary prolactinoma (only MEN 1) The Gastrin is for pancreatic gastrinomas (only MEN1) |
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What skin findings can you see with MEN 1?
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Lipomas
Collangenomas Angiofibromas |
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What skin findings can you see with MEN2?
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Scaly Skin Rash
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Which genetic disorder affects the parathyroid, the pancreas and the pituitary?
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MEN 1
Multiple Endocrine Neoplasia Type 1 |
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Which genetic disorder causes Medullary Thyroid Carcinoma almost 100% of the time and can also cause pehochromocytoma and Parathyroid tumors?
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MEN2
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What genes can cause Hereditary Paraganglioma/ Pheochromocytoma?
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Hereditary Paraganglioma/ Pheochromocytoma
SDHB SDHC SDHD (SDH5)??? |
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Name 4 kinds of cancers (disorders) you can see with
PGL/ PCC |
Paragangliomas (PGL)
Pheochromocytomas (PCC) Renal Cell Carcinomas GIST (Gastrointestinal Stromal Tumors) |
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Your patient has a paraganglioma, but no other signs or symptoms indicative of genetic disorder. No family members are known to have genetic disorder.
Do you refer to a genetic counselor? |
Yes.
Having paraganglioma alone is enough to warrant a genetics referral. 25% of paraganglioma is due to an identifiable mutation |
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Your patient has a pheochromocytoma. No other disorders. No family history. Is this enough to warrant a genetic referral?
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Yes.
Pheochromocytoma alone is enough to warrant a genetics referral. 25% of pheochromocytoma is due to an identifiable mutation |
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What kind of inheritance is seen with the genes:
SDHB SDHC SDHD |
Autosomal dominant
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What is SDH5 and what kind of inheritance is seen with it?
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It is a gene identified at the U of U.
It is autosomal recessive. If people are heterozygous they are unaffected. If they are biallelic then they have Leigh syndrome (a CNS degenerative disease) |
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Of the following genes for Hereditary PGL/ PCC,
which is more likely to display multifocal tumors? *SDHB *SDHD |
Hereditary PGL/ PCC
SDHD = multifocal |
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Of the following genes for Hereditary PGL/ PCC,
which is more likely to cause malignant tumors? *SDHB *SDHD |
SDHB = malignant
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Of the following genes for Hereditary PGL/ PCC,
which is more likely to occur de novo? *SDHB *SDHD |
Hereditary PGL/ PCC
SDHB = more likely de novo |
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Of the following genes for Hereditary PGL/ PCC, which shows parent of origin effect?
*SDHB *SDHD |
SDHD = parent of origin effect
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Of the following genes for Hereditary PGL/ PCC, which is more likely to involve head and neck paraganglioma?
*SDHB *SDHD |
Hereditary PGL/ PCC
SDHD = more head and neck paraganglioma |
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Of the following genes for Hereditary PGL/ PCC,
which is the LEAST likely to cause the disorder? *SDHB *SDHD *SDHC |
SDHC = more rare
SDHD - Shows maternal imprinting - so mom's can't pass it on |
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How do you manage those at risk for Heriditary Paraganglioma/ Pheochromocytoma (PGL/PCC)?
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Rapid total body MRI
Blood & Urine Tests Remove tumors surgically if they occur |
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Name 8 Heriditary Syndromes that can play a role in Kidney Cancer
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*VHL Von Hippel Lindau
*TSC Tuberous Sclerosis *BHD Birt Hogg Dube *Wilm's tumor Syndromes *HPRCC Hereditary Papillary Renal Cell Carcinoma *HLRCC Hereditary Leiomyomatosis Renal Cell Carcinoma *Cowden/ BRR *HNPCC Heriditary non-polyposis colon cancer (Lynch) |
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What is the most common type of kidney cancer?
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Renal cell carcinoma
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The following are types of what kind of cancer?
*clear cell type *papillary type *chromophobe type *collecting duct type |
Renal Cell Carcinoma
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Which of the following Kidney Tumors are BENIGN?
*Wilm's tumor *Angiomyolipona *Renal Sarcoma *Renal Adenoma *Renal Cell Carcinoma *Transitional Cell Carcinoma *Oncocytoma |
The benign types of Kidney Tumors
*Angiomyolipoma BENIGN *Renal Adenoma BENIGN *Angiomyolipoma BENIGN CANCEROUS: Wilms, Renal Sarcoma, Renal Cell Carcinoma Transitional Cell Carcinoma, Oncocytoma |
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(Von Hippel Lindau -VHL)
What gene causes von Hippel Lindau and what kind of gene is it? |
The VHL gene = a tumor suppressor
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(Von Hippel Lindau -VHL)
True or False: There has been parental mosaicism in VHL |
True:
(Von Hippel Lindau -VHL) Has shown parental mosaicism |
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(Von Hippel Lindau -VHL)
How penetrant is VHL? |
High
Mostly by age 65 |
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(Von Hippel Lindau -VHL)
How sensitive is VHL testing? |
>99% sensitive
A sequence analysis of 3 exons picks up 75%. Then large deletion analysis adds another 25% |
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(Von Hippel Lindau -VHL)
What kind of cancers/ tumors/ conditions does VHL cause? (6) |
*Hemangioma of brain, spinal cord, retina
*Renal cysts and clear cell renal carcinoma *Pheochromocytoma *Endolymphatic sac tumors *Epididymal Tumors *Pancreatic cysts |
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(Von Hippel Lindau -VHL)
How do you diagnose VHL? |
VHL is diagnosed with either
2 or more hemangioblastomas of the retina or brain OR Single hemangioblastoma and one other condition (cysts of kidney or pancreas, renal cell carcinoma, pheochromocytoma, endolymphatic sac tumor, epididymal tumor, neuroendocrine tumor of the pancreas). |
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(Von Hippel Lindau -VHL)
How do you manage someone with VHL mutation/ disorder? |
"THINK: V = roman numeral for 5"
*Annual opthalmologic start before 5 y.o. *Annual BP by 5 y.o.(pheochromocytoma) *Annual urine catecholamines by 5 y.o. (pheochromocytoma) *Annual abd US by 16 y.o (renal/ pancreatic cysts - renal cell carcinoma)) *Annual audiology (endolymphatic sac tumors) *Surgery for tumors as needed RENAL CYSTS ARE LEADING C.O.D. |
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(Von Hippel Lindau -VHL)
If you know the specific mutation in VHL would you screen any differently? |
No.
The genotype/ phenotype correlations with VHL are not as strong as the correlations with RET (oncogene causing MEN2) |
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Tuberous Sclerosis Cancer (TSC)
What is the penetrance for TSC? |
Almost 100%
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Tuberous Sclerosis Cancer (TSC)
How often is TSC de novo? |
66% de novo
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Tuberous Sclerosis Cancer (TSC)
Is there somatic mosaicism in TSC? |
Yes
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Tuberous Sclerosis Cancer (TSC)
What genes do you test for TSC? And what kind of genes are they? |
Tuberous Sclerosis Cancer (TSC)
TSC1 and TSC2 = tumor suppressors |
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Tuberous Sclerosis Cancer (TSC)
Is TSC testing sensitive? |
About 70% sensitive
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Tuberous Sclerosis Cancer (TSC)
What skin findings do you see with TSC? |
Hypomelanomic Macules
Facial Angiofibromas Shagreen patches Ungual fibromata |
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Tuberous Sclerosis Cancer (TSC)
What CNS findings do you see with TSC? |
Tuberous Sclerosis Cancer (TSC)
Subependymal glial nodules (90%) Cortical tubers (70%) subependymal giant cell astrocytomas developmental delay PDD autism seizures |
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Tuberous Sclerosis Cancer (TSC)
What kind of cardiac problems do you see with TSC? |
Tuberous Sclerosis Cancer (TSC)
Cardiac Rhabdomyomas |
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Tuberous Sclerosis Cancer (TSC)
What kind of lung problems do you see with TSC? |
Tuberous Sclerosis Cancer (TSC)
Lymphangiomyomatosis (lung fibroids or leiomyoma throughout the lungs) |
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Tuberous Sclerosis Cancer (TSC)
What kind of eye problems do you see with TSC? |
retinal lesions
hamartomas |
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Tuberous Sclerosis Cancer (TSC)
What kind of kidney problems do you see with TSC? |
*Renal tumors (80% by age 11)
*benign angiomyolipoma 70% *epithelial cysts 20-30% *renal cell carcinoma <3% *malignant angiomyolipoma *oncocytoma |
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Tuberous Sclerosis Cancer (TSC)
How do you manage someone with mutations in TSC1 or TSC2? What do you screen? |
*derm evaluation (woods lamp)
*cranial CT or MRI *renal US *Opthalmic *If cardiac symptoms - echo *if seizures - EEG *developmental & behavioral eval *if sx - chest CT |
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(Birt Hogg Dube - BHD)
What kind of inheritance is seen in BHD? |
Autosomal dominant
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(Birt Hogg Dube - BHD)
How common is BHD |
Very Rare only about 70 documented cases
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(Birt Hogg Dube - BHD)
What gene do you test for BHD? And what kind of gene is it? |
(Birt Hogg Dube - BHD)
FLCN (folliculin) = tumor suppressor gene |
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(Birt Hogg Dube - BHD)
What kind of skin findings do you see with BHD? |
Fibrofolliculomas
Harmatoma of Hair follicule |
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(Birt Hogg Dube - BHD)
What kind of lung findings do you see with BHD? |
Lung Cysts
Spontaneous Pneumothorax |
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(Birt Hogg Dube - BHD)
What kind of kidney findings do you see with BHD? |
Renal Tumors (Birt Hogg Dube - BHD)
*Bilateral and Multifocal *Oncocytoma *Chromophobe RCC *Oncocytic Hybird Tumor *some clear cell RCC |
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If you find a chromophobe RCC what kind of genetic disorder do you suspect?
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(Birt Hogg Dube - BHD)
15 - 29% of BHD patients will develop kidney cancer |
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If you have a clear cell RCC, what kind of genetic disorder could you have?
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VHL Von Hippel Lindau
OR BHD Birt Hogg Dube |
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(Birt Hogg Dube - BHD)
How do you manage someone with BHD? |
Dermatology
Chest CT screen for pulmonary cysts Eval if S/Sx pneumothorax Abd/ Pelvic CT/MRI/US screen for renal tumors |
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Wilms Tumor
What is the gene for Wilms Tumor? |
Wilms Tumor
WT1 |
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What is the most common pediatric kidney cancer?
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Wilms Tumor
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How much of Wilms Tumor is heritible?
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10 - 15%
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How old are most patients with Wilms Tumor
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Wilms Tumor onset 3 - 4 y.o.
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What is another name for nephroblastoma?
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Wilms Tumor
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What is another name for Wilms Tumor
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Nephroblastoma
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How do you pronounce WAGR Syndrome?
Like a dog "wag"s his tail. Like like you place a bet or "wager" your earnings? |
I think like a dog is a wager,
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What can you wee with WAGR Syndrome? (Hint- the name is an acronym)
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Wilms Tumor
Aniridia (lack of eye iris) Genital Anomalies Retardation |
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How many kids with WAGR get Wilms tumor?
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40-50%
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What kind of inheritance do you see in WAGR?
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Autosomal dominant
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What kind of gene disorder do you see in WAGR
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Deletions of 11p13
(including PAX6 and WT1) PAX 6 does aniridia WT1 does Wilms Tumor |
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Denys-Drash Syndrome
How many kids with Denys'Drash get Wilms Tumor? |
More than 90%
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Denys-Drash Syndrome
What type of inheritance? |
Autosomal dominant
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What else is seen in Denys-Drash Syndrome
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Denys-Drash Syndrome
*Wilms Tumor *Ambiguous Genitalia and gonadal dysgenesis *Diffues mesangial sclerosis (nephropathy) - progresses to renal failure and death by 3 y.o. without transplant |
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Kidney Cancer
Name the Syndromes and genes (with de novo rates) that would be on your differential diagnosis. |
VHL - Von Hippel Lindau (VHL gene - 20% de novo)
TSC - Tuberous Sclerosis (TSC 1 & 2 66% de novo) BHD - Birt Hogg Dube (FLCN - folliculin-gene) de novo unknown Wilms Tumor Syndromes (WT1 gene) HPRCC Hereditary Papillary Renal Cell Carcinoma ((c-MET gene) HLRCC Hereditary Leiomyomatous Renal Cell Carcinoma (FH -fumerate hydratase gene) Cowden/ BRR -Bannayan-Riley-Ruvalcaba (pten gene) HNPCC Hereditary Non-Polyposis Colorectal Cancer-Lynch (MLH 1, MSH2, MSH6, PMS2 genes -all Missmatch repair) |
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(VHL - Von Hippel Lindau)
How penetrant is VHL? |
(VHL - Von Hippel Lindau)
Highly by age 65 Start screenings age 5 |
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(VHL - Von Hippel Lindau)
What kind of gene is the VHL gene? |
(VHL - Von Hippel Lindau)
A tumor suppressor gene |
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(VHL - Von Hippel Lindau)
Name the clinical features of VHL |
(VHL - Von Hippel Lindau)
Hemangioblastomas (Brain/ Spine/ Retina) Renal Cysts and RCC (40%) Pheochromocytoma Endolymmphatic sac tumors (hearing loss) Epididymal Tumors Pancreatic Cysts |
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(VHL - Von Hippel Lindau)
How do you Dx VHL? |
(VHL - Von Hippel Lindau)
2+ hemangioblastomas of the retina or brain OR a single hemangioblastoma and one of the following (kidney cyst, RCC, pheo, endolymphatic sac tumor, epididymal tumor, pancreas tumor) If there is a Fam HX then only need one of above |
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VHL- Von Hippel Lindau
How sensitive is the testing for VHL gene if people meet criteria? |
VHL- Von Hippel Lindau
> 99% sensitive |
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VHL- Von Hippel Lindau
How much of VHL is de novo |
VHL- Von Hippel Lindau
20% de novo |
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VHL- Von Hippel Lindau
If someone has VHL when do you start screening? |
VHL- Von Hippel Lindau
Age 5 |
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TSC Tuberous Sclerosis
What gene causes Tuberous Sclerosis? |
TSC Tuberous Sclerosis
TSC1 and TSC 2 |
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TSC Tuberous Sclerosis
How penetrant is TSC |
TSC Tuberous Sclerosis
Almost 100% |
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BHD Birt Hogg Dube
What gene causes BHD? |
BHD Birt Hogg Dube
FLCN (folliculin) gene a tumor suppressor - testing is 84% sensitive for this gene |
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BHD Birt Hogg Dube
What are the clinical features of BHD? |
BHD Birt Hogg Dube
Fibrofolliculomas (specific for BHD) Lung Cysts/ Spontaneous Pneumothorax Renal tumors |
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BHD Birt Hogg Dube
What kind of renal tumors show up in BHD? |
BHD Birt Hogg Dube
Bilateral and multifocal Oncocytoma Chromophobe RCC Oncocytic Hybrid Tumor Some RCC |
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BHD Birt Hogg Dube
How many with BHD develop kidney cancer? |
BHD Birt Hogg Dube
15 - 29% |
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WT1 Wilms Tumor
What three syndromes are caused by mutations in the WT1 gene? |
WT1 Wilms Tumor
WAGR Denys-Drash Frasier |
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WT1 Wilms Tumor
What are the characteristics of WAGR syndrome? |
WT1 Wilms Tumor
W = Wilms tumor A= Aniridia G = Genital anomalies R = retardation |
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WT1 Wilms Tumor
What is the rate of Wilms tumor in WAGR syndrome Denys-Drash Syndrome |
WT1 Wilms Tumor
WAGR = 40-50% risk Denys-Drash = > 90% risk |
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WT1 Wilms Tumor
What is seen with Denys-Drash syndrome besides Wilm's tumor? |
WT1 Wilms Tumor
Denys-Drash = ambiguous genitalia, gonadal dysgenisis, nephropathy - renal failure and death by age 3 if no transplant |
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WT1 Wilms Tumor
What is seen with Frasier syndrome besides Wilm's tumor? |
WT1 Wilms Tumor
Frasier syndrome - wilm's tumor not really frequent even though mutation is in WT1 Other things seen = ambiguous genitalia, gonadoblastoma |
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What is BRR and what gene mutation causes it?
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Bannayan-Riley-Ruvalcaba
PTEN gene |
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Bannayan-Riley-Ruvalcaba (PTEN)
In BRR we see some tings similar to Cowden Syndrome (macrocephaly, hamartomatous intestinal polyps, lipomas, risk for renal cell carcinoma & breast cancer. What other things do we see in BRR? What other |
Bannayan-Riley-Ruvalcaba (PTEN)
Pigmented macules of glans penis High birth weight developmental delay (50%) Joint hyperextensibility Myopathy (60%) Pectus Excavatum Scoliosis (50%) |
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What is high on your differential if your patient has:
-breast cancer -scoliosis -joint hyperextensibility -lipomas |
Bannayan-Riley-Ruvalcaba (PTEN)
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HPRCC Hereditary Papillary Renal Cell Carcinoma
What gene causes HPRCC? |
HPRCC Hereditary Papillary Renal Cell Carcinoma
c-MET gene an ONCOGENE |
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HLRCC Hereditary Leiomyoma Renal Cell Carcinoma
What gene causes HLRCC? |
HLRCC Hereditary Leiomyoma Renal Cell Carcinoma
FH gene fumerate hydratase |
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HLRCC Hereditary Leiomyoma Renal Cell Carcinoma
What are clinical features of HLRCC? |
HLRCC Hereditary Leiomyoma Renal Cell Carcinoma
Cutaneous leiomyomata Uterine leiomyomata (age 18 -52) Risk for uterine leiomyosarcoma Renal tumors in 10-16% of individuals |
