MEN-SB

Question 1

What is a key clinical feature of adrenocortical carcinoma regarding steroid production?

Answer 1

It is characterized by the overt excess of more than one active steroid, such as glucocorticoids and androgens.

Question 2

What clinical signs raise concern for an adrenal or ovarian tumor, specifically related to androgens?

Answer 2

Rapid progression of androgen excess with very high testosterone levels and virilization (e.g., voice deepening).

Question 3

In suspected adrenal cancer, what does disproportionate mineralocorticoid excess relative to cortisol and aldosterone suggest?

Answer 3

It suggests elevated cortisol precursors like corticosterone and 11-deoxycorticosterone.

Question 4

Adrenal carcinomas often have reduced activity of which enzyme, leading to altered steroid production?

Answer 4

11ß-hydroxylase.

Question 5

Reduced 11ß-hydroxylase activity in adrenal carcinomas leads to elevated levels of which two precursors?

Answer 5

11-deoxycortisol and other upstream intermediates.

Question 6

What combination of elevated markers is highly suggestive of adrenocortical carcinoma?

Answer 6

Elevated DHEA-S alongside testosterone and 11-deoxycortisol.

Question 7

What is one mechanism of hypokalemia in adrenal cancer related to severe hypercortisolism?

Answer 7

Severe hypercortisolism overwhelms the 11ß-hydroxysteroid dehydrogenase type 2 enzyme in the kidney.

Question 8

What is a cause of hypokalemia in adrenal cancer related to tumor location and its effect on the kidneys?

Answer 8

Compression of the kidney and renal vasculature, leading to hyperreninemic hyperaldosteronism.

Question 9

Up to 80% of pediatric adrenocortical carcinoma (ACC) cases are associated with which hereditary syndrome?

Answer 9

Li-Fraumeni Syndrome (LFS).

Question 10

Lynch Syndrome (LS) accounts for what percentage of adrenocortical carcinoma cases?

Answer 10

3-5%.

Question 11

In adults, Li-Fraumeni Syndrome (LFS) accounts for approximately what percentage of adrenocortical carcinoma cases?

Answer 11

2% to 3%.

Question 12

While adrenal tumors are common in Familial Adenomatous Polyposis (FAP), they are typically what kind of tumor?

Answer 12

Benign adenomas.

Question 13

What are the two core syndromic cancers associated with Lynch Syndrome (Hereditary Nonpolyposis Colon Cancer)?

Answer 13

Early-onset colon cancer (<50 years) and uterine cancer.

Question 14

Which four genes are primarily involved in Lynch Syndrome?

Answer 14

MSH2, MSH6, PMS2, and MLH1.

Question 15

The mnemonic ‘LABS ARE TOO PRESSED’ is used for Li-Fraumeni Syndrome. What do L, A, and B stand for?

Answer 15

L - Lung cancer, A - Adrenal cancer, B - Breast cancer (young-onset) and Brain cancer.

Question 16

The mnemonic ‘LABS ARE TOO PRESSED’ is used for Li-Fraumeni Syndrome. What do S and ‘Too Pressed’ stand for?

Answer 16

S - Sarcomas, Too Pressed - TP (TP53 germline pathogenic variants).

Question 17

What is the mnemonic for the key features of Carney Complex?

Answer 17

“CARNEY”.

Question 18

In the “CARNEY” mnemonic for Carney Complex, what does ‘A’ stand for?

Answer 18

Adrenal (PPNAD - Primary Pigmented Nodular Adrenal Disease).

Question 19

In the “CARNEY” mnemonic for Carney Complex, what does ‘Y’ signify?

Answer 19

Young men (with Testicular Tumors; specifically, large-cell calcifying Sertoli-cell tumors).

Question 20

What is the primary gene implicated in Carney Complex?

Answer 20

PRKAR1A (germline pathogenic variants).

Question 21

In adults with Carney Complex, what manifestation is associated with the greatest morbidity and mortality?

Answer 21

Cardiac myxomas.

Question 22

Due to the high risk of stroke and death, what is the most important imaging surveillance for a patient with Carney Complex?

Answer 22

Transthoracic surface echocardiography of the heart or cardiac MRI.

Question 23

What is the preferred treatment for localized adrenal carcinoma (cT1-T2, N0, M0)?

Answer 23

Complete surgical resection (adrenalectomy).

Question 24

For stage 3 adrenocortical carcinoma, what adjuvant therapy can be considered?

Answer 24

Adjuvant mitotane monotherapy.

Question 25

What is the mainstay of systemic therapy for metastatic adrenal carcinoma?

Answer 25

Mitotane.

Question 26

What defines a T1 stage adrenocortical carcinoma?

Answer 26

Tumor size ≤ 5 cm, with no lymph node involvement or distant metastasis (T1 N0 M0).

Question 27

What defines a T2 stage adrenocortical carcinoma?

Answer 27

Tumor size > 5 cm but confined to the adrenal gland, with no lymph node involvement or distant metastasis (T2 N0 M0).

Question 28

What is the lesion mnemonic for MEN 1?

Answer 28

PaPaPi (Parathyroid Hyperplasia, Pancreatic Tumor, Pituitary Adenoma).

Question 29

What is the lesion mnemonic for MEN2A?

Answer 29

PaMePhe (Parathyroid Hyperplasia, Medullary Thyroid Ca, Pheochromocytoma).

Question 30

What is the lesion mnemonic for MEN2B?

Answer 30

MaMePhe (Marfanoid Body habitus, Medullary Thyroid Ca, Pheochromocytoma), plus Mucosal Neuromas.

Question 31

MEN1 is clinically diagnosed based on the occurrence of two or more primary tumor types from which three locations?

Answer 31

Parathyroid gland, anterior pituitary, and enteropancreatic tissues.

Question 32

In a family member of a patient with clinically diagnosed MEN1, how many MEN1-associated tumors are needed to diagnose familial MEN1?

Answer 32

Only one.

Question 33

What is the most frequent initial manifestation of MEN1, found in the majority of patients by age 50?

Answer 33

Primary hyperparathyroidism.

Question 34

What are the two most common types of pituitary adenomas in MEN1?

Answer 34

Lactotroph adenomas and nonfunctioning adenomas.

Question 35

What is the most common *symptomatic* pancreatic tumor in MEN1?

Answer 35

Gastrinoma (causing Zollinger-Ellison Syndrome).

Question 36

What is the most common pancreatic tumor type *overall* in MEN1?

Answer 36

Nonfunctioning tumors.

Question 37

What three laboratory measurements should be performed annually for monitoring individuals with MEN1?

Answer 37

Serum calcium, parathyroid hormone (PTH), and prolactin.

Question 38

The genetic defect in MEN2 involves a proto-oncogene on chromosome 10. What is this gene?

Answer 38

The RET proto-oncogene.

Question 39

What is the inheritance pattern for both MEN2A and MEN2B?

Answer 39

Autosomal dominant with very high penetrance.

Question 40

The lifetime penetrance of _____ is nearly 100 percent in patients with MEN2A.

Answer 40

medullary thyroid cancer (MTC)

Question 41

How does the medullary thyroid cancer (MTC) in MEN2B differ from that in MEN2A?

Answer 41

In MEN2B, MTC develops at an earlier age and is more aggressive.

Question 42

Besides MTC and pheochromocytoma, MEN2B is characterized by what distinctive physical features?

Answer 42

Mucosal neuromas (lips and tongue), intestinal ganglioneuromas, and Marfanoid habitus.

Question 43

To diagnose MEN2A without a known RET mutation or family history, a patient must have at least two of which three classical features?

Answer 43

Medullary thyroid cancer (MTC), pheochromocytoma, and primary hyperparathyroidism.

Question 44

For a patient newly diagnosed with MTC who may have MEN2, what is the initial screening test for pheochromocytoma?

Answer 44

Measure plasma fractionated metanephrines.

Question 45

For a patient with MEN2A newly diagnosed with MTC, what blood test is used to assess for hyperparathyroidism?

Answer 45

Measure serum calcium.

Question 46

If a patient with MEN2 presents with a pheochromocytoma, what two evaluations should be done to check for MTC?

Answer 46

Measure serum calcitonin and perform a neck ultrasound.

Question 47

If a patient with MEN2 is found to have both a pheochromocytoma and medullary thyroid cancer, which tumor should be surgically removed first?

Answer 47

The pheochromocytoma must be removed before the thyroidectomy.

Question 48

For a patient with a germline RET pathogenic variant conferring MEN2A risk, what four biochemical markers are used for annual screening?

Answer 48

Calcium, metanephrines (plasma or urine), calcitonin, and carcinoembryonic antigen (CEA).

Question 49

A rare skin condition characterized by pruritic papules on the upper back, known as _____, is associated with MEN2.

Answer 49

cutaneous lichen amyloidosis

Question 50

Which RET codon mutation is associated with the HIGHEST risk level for medullary thyroid cancer?

Answer 50

Codon 918.

Question 51

RET codon mutations at positions _____ and _____ are associated with a HIGH risk level for medullary thyroid cancer.

Answer 51

634, 883

Question 52

Which gene is affected in MEN1, and on which chromosome is it located?

Answer 52

The MEN1 gene on chromosome 11q13.

Question 53

Which gene is affected in both MEN2A and MEN2B, and on which chromosome is it located?

Answer 53

The RET proto-oncogene on chromosome 10q11.2.

Question 54

Hyperparathyroidism is present in ≥90% of cases of which MEN syndrome?

Answer 54

MEN1.

Question 55

Hyperparathyroidism occurs in 10-20% of cases of which MEN syndrome?

Answer 55

MEN2A.

Question 56

Pheochromocytomas occur in 40-50% of _____ cases and 50% of _____ cases.

Answer 56

MEN2A, MEN2B

Question 57

Non-endocrine manifestations such as facial angiofibromas, collagenomas, and lipomas are associated with which MEN syndrome?

Answer 57

MEN1.

Question 58

What two tumor markers are produced by medullary thyroid cancer (MTC)?

Answer 58

Serum calcitonin and carcinoembryonic antigen (CEA).

Question 59

What is the pathophysiological cause of ectopic Cushing syndrome in patients with medullary thyroid cancer (MTC)?

Answer 59

The MTC produces neuropeptide hormones, such as ACTH.

Question 60

Ectopic Cushing syndrome occurs in what percentage of medullary thyroid cancer (MTC) cases?

Answer 60

2% to 8%.

Question 61

Term: Lichen Amyloidosis

Answer 61

A form of cutaneous amyloidosis with multiple, small, firm, raised, and intensely itchy papules, typically on the shins.

Question 62

What is the confirmatory diagnostic procedure for lichen amyloidosis and what is the characteristic finding?

Answer 62

A skin biopsy stained with Congo red, which shows apple-green birefringence under polarized light.