Multiple Endocrine Neoplasia — MCQs
What is the most common thyroid tumor associated with multiple endocrine neoplasia (MEN)?
Submucosal neuroma is associated with
MC location of gastrinoma in MEN-1 syndrome?
Hirschsprung disease has association with which of the following conditions?
Which of the following conditions is least associated with tumor suppressor genes?
Which of the following syndromes is least likely to be associated with obesity?
Colonoscopy is not indicated in which of the following conditions?
Which type of thyroid cancer is associated with primary hyperparathyroidism and phaeochromocytoma?
All of the following are seen in MEN 2B except which of the following?
A 27-year-old woman presents with 26 weeks of gestation with a thyroid lesion which is found to be papillary carcinoma of thyroid. Which is the best treatment for this patient?
Multiple Endocrine Neoplasia Indian Medical PG Practice Questions and MCQs
Question 1: What is the most common thyroid tumor associated with multiple endocrine neoplasia (MEN)?
- A. Follicular
- B. Papillary
- C. Anaplastic
- D. Medullary (Correct Answer)
Explanation: ***Medullary*** - The **commonest thyroid tumor** in Multiple Endocrine Neoplasia (MEN) type 2 is medullary thyroid carcinoma, associated with **calcitonin production** [1]. - It arises from **C cells (parafollicular cells)** and is linked to **RET oncogene mutations** in MEN syndromes [1]. *Papillary* - Papillary thyroid carcinoma is the **most common thyroid cancer overall**, but not specifically associated with MEN syndromes. - It typically presents with **lymphatic spread**, whereas medullary carcinoma has a different genetic association. *Follicular* - Follicular thyroid carcinoma is less common in MEN and usually occurs sporadically. - It primarily arises from **follicular cells** and involves a different mechanism than medullary carcinoma. *Anaplastic* - Anaplastic thyroid carcinoma is a rare and highly aggressive form, not commonly associated with MEN. - It usually arises from **differentiated thyroid cancers** and presents in older patients, which does not align with MEN's typical presentations. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Endocrine System, pp. 1102-1103.
Question 2: Submucosal neuroma is associated with
- A. MEN 2 A
- B. MEN 2B (Correct Answer)
- C. MEN 1
- D. None of the options
Explanation: ***MEN 2B (Multiple Endocrine Neoplasia Type 2B)*** - **Submucosal neuromas** are a distinctive feature of MEN 2B, specifically noticeble as mucosal neuromas on the lips, tongue, and gastrointestinal tract. - This syndrome is characterized by the presence of **medullary thyroid carcinoma**, **pheochromocytoma**, and mucocutaneous neuromas, without hyperparathyroidism. *MEN 2A (Multiple Endocrine Neoplasia Type 2A)* - MEN 2A is characterized by **medullary thyroid carcinoma**, **pheochromocytoma**, and **primary hyperparathyroidism**. - It does not typically feature extensive **submucosal neuromas** as a primary diagnostic criterion. *MEN 1 (Multiple Endocrine Neoplasia Type 1)* - MEN 1 involves tumors of the **parathyroid glands**, **anterior pituitary**, and **pancreatic islet cells** (the '3 Ps'). - **Submucosal neuromas** are not a component of the MEN 1 syndrome. *None of the options* - This option is incorrect because **submucosal neuromas** are a characteristic finding in MEN 2B.
Question 3: MC location of gastrinoma in MEN-1 syndrome?
- A. Jejunum
- B. Ileum
- C. Duodenum
- D. Pancreas (Correct Answer)
Explanation: ***Pancreas*** - In **Multiple Endocrine Neoplasia type 1 (MEN-1) syndrome**, gastrinomas are most commonly found in the **pancreas**. - While sporadic gastrinomas are frequently duodenal, the **genetic predisposition of MEN-1** shifts the primary location to the pancreas. *Duodenum* - **Sporadic gastrinomas** without MEN-1 syndrome are most frequently located in the **duodenum**, particularly the first and second parts. - However, in the context of **MEN-1**, the pancreas becomes the predominant site for gastrinoma development. *Jejunum* - The jejunum is an **uncommon location** for gastrinomas in both sporadic cases and those associated with MEN-1. - Gastrinomas found in the jejunum are typically **rare** and often associated with more aggressive disease or disseminated metastasis. *Ileum* - The ileum is an **extremely rare site** for gastrinomas. - Gastrinomas developing in the ileum are usually **ectopic** and are not typically the primary location in either sporadic cases or MEN-1 syndrome.
Question 4: Hirschsprung disease has association with which of the following conditions?
- A. MEN 2B (Correct Answer)
- B. Von Hippel Lindau
- C. MEN 2A
- D. MEN I
Explanation: ***MEN 2B*** - **Hirschsprung disease** is associated with **Multiple Endocrine Neoplasia type 2B (MEN 2B)** due to mutations in the **RET proto-oncogene** [1]. - These patients often present with **pheochromocytoma**, **medullary thyroid carcinoma**, and characteristic **mucosal neuromas** and a **marfanoid habitus**. *Von Hippel-Lindau* - This syndrome is associated with the development of **hemangioblastomas**, **pheochromocytomas**, and **renal cell carcinoma**. - It is caused by mutations in the **VHL tumor suppressor gene** and does not have a direct association with Hirschsprung disease. *MEN 2A* - **MEN 2A** is characterized by **medullary thyroid carcinoma**, **pheochromocytoma**, and **primary hyperparathyroidism**. - While also caused by **RET proto-oncogene** mutations, it typically does not present with Hirschsprung disease [1]. *MEN 1* - **Multiple Endocrine Neoplasia type 1 (MEN 1)** is associated with **tumors of the parathyroid, pituitary, and pancreas** ("3 Ps"). - This syndrome is due to mutations in the **MEN1 tumor suppressor gene** and has no known association with Hirschsprung disease.
Question 5: Which of the following conditions is least associated with tumor suppressor genes?
- A. Neurofibromatosis
- B. Retinoblastoma
- C. Acute Myeloid Leukemia (AML) (Correct Answer)
- D. Breast cancer
Explanation: ***Multiple endocrine neoplasia*** - This syndrome involves mutations in **proto-oncogenes** like RET rather than tumor suppressor genes. - The condition is mainly characterized by the presence of **multiple endocrine tumors** rather than a failure of tumor suppression. *Retinoblastoma* - Associated with mutations in the **RB1 tumor suppressor gene**, leading to uncontrolled cell proliferation [1] [2]. - Classic example of **loss of function** in a tumor suppressor gene resulting in cancer, specifically in early childhood [1] [2]. *Neurofibromatosis* - Caused by mutations in **NF1** or **NF2 genes**, both of which function as tumor suppressors. - Leads to benign tumors such as **neurofibromas** and other neurogenic tumors due to malfunction in tumor suppression. *Breast cancers* - Often related to mutations in tumor suppressor genes such as **BRCA1** and **BRCA2**, which increase cancer risk [2]. - Implicated in the hereditary form of breast and ovarian cancers due to their roles in DNA repair and cell cycle regulation [2]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. (Basic Pathology) introduces the student to key general principles of pathology, both as a medical science and as a clinical activity with a vital role in patient care. Part 2 (Disease Mechanisms) provides fundamental knowledge about the cellular and molecular processes involved in diseases, providing the rationale for their treatment. Part 3 (Systematic Pathology) deals in detail with specific diseases, with emphasis on the clinically important aspects., pp. 227-228. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Neoplasia, pp. 298-302.
Question 6: Which of the following syndromes is least likely to be associated with obesity?
- A. Cushing syndrome
- B. Prader willi syndrome
- C. Sipple syndrome (Correct Answer)
- D. Pickwickian syndrome
Explanation: ***Sipple syndrome*** - Sipple syndrome, also known as **multiple endocrine neoplasia type 2**, is primarily associated with **medullary thyroid carcinoma** and does not typically correlate with obesity. - It includes signs like **pheochromocytoma** and **hyperparathyroidism**, but obesity is not a prominent feature. *Cushing syndrome* - Cushing syndrome leads to **excess cortisol**, commonly resulting in weight gain and central obesity [1]. - Characteristic features include **moon facies**, **buffalo hump**, and easy bruising, all associated with obesity [1]. *Pickwinian syndrome* - Pickwinian syndrome, characterized by **severe obesity**, is a condition primarily affecting physical stature and weight. - It is linked to **hypoventilation** and sleep apnea, reinforcing the presence of obesity. *Prader willi syndrome* - Prader-Willi syndrome is marked by **insatiable hunger** leading to **obesity** due to hypothalamic dysfunction [2]. - Individuals with this condition also demonstrate **hypotonia** and developmental delays, commonly accompanied by obesity [2]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Endocrine System, pp. 1127-1129. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Central Nervous System Synapse, pp. 454-455.
Question 7: Colonoscopy is not indicated in which of the following conditions?
- A. Familial Adenomatous Polyposis
- B. Multiple Endocrine Neoplasia type 2B (Correct Answer)
- C. Hereditary Nonpolyposis Colorectal Cancer
- D. Peutz-Jeghers Syndrome
Explanation: ***Multiple Endocrine Neoplasia type 2B*** - **MEN 2B** is characterized by **medullary thyroid carcinoma**, **pheochromocytoma**, and specific features such as **mucosal neuromas** and a marfanoid habitus, but it does **not involve colonic polyps or an increased risk of colorectal cancer** that would necessitate colonoscopy. - While gastrointestinal manifestations like ganglioneuromatosis may be present, **routine colonoscopy screening** is not indicated in this syndrome as there is no increased colorectal cancer risk. *Familial Adenomatous Polyposis* - **FAP** is an autosomal dominant disorder characterized by the development of hundreds to thousands of **colorectal adenomatous polyps**, which have an almost 100% risk of progressing to **colorectal cancer** if untreated. - **Regular colonoscopic surveillance** and eventual colectomy are essential for managing this condition due to the high malignancy risk. *Hereditary Nonpolyposis Colorectal Cancer* - Also known as **Lynch syndrome**, HNPCC is characterized by an increased risk of **colorectal cancer** and other extra-colonic cancers (e.g., endometrial, ovarian) due to germline mutations in **mismatch repair genes**. - **Colonoscopy is crucial** for early detection and prevention of colorectal cancer in affected individuals, typically starting at age 20-25 years or 2-5 years before the youngest family member was diagnosed. *Peutz-Jeghers Syndrome* - **Peutz-Jeghers Syndrome** is an autosomal dominant condition characterized by **hamartomatous polyps** throughout the gastrointestinal tract and mucocutaneous pigmentation (melanotic macules on lips, oral mucosa, and digits). - These polyps have **malignant potential** with increased risk of gastrointestinal and extra-intestinal cancers (breast, ovarian, pancreatic). - **Regular colonoscopic surveillance** is recommended starting from late teens or early 20s for polyp detection and removal.
Question 8: Which type of thyroid cancer is associated with primary hyperparathyroidism and phaeochromocytoma?
- A. Medullary carcinoma of the thyroid (Correct Answer)
- B. Papillary carcinoma of the thyroid
- C. Anaplastic carcinoma of the thyroid
- D. Follicular carcinoma of the thyroid
Explanation: ***Medullary carcinoma of the thyroid*** - Associated with **multiple endocrine neoplasia (MEN) syndrome type 2**, which includes primary hyperparathyroidism and phaeochromocytoma [1]. - Medullary carcinoma arises from **C cells** (parafollicular cells) and is linked with **elevated calcitonin** levels. *Papillary carcinoma of the thyroid* - The most common type of thyroid cancer, but **not associated** with MEN syndromes. - Typically presents as a solitary **nodule** and is linked with **radiation exposure** rather than endocrine syndromes. *Anaplastic carcinoma of the thyroid* - A highly aggressive and undifferentiated form of thyroid cancer, often associated with **poor prognosis**. - Usually arises in older adults and does not have associations with **hyperparathyroidism** or phaeochromocytoma. *Follicular carcinoma of the thyroid* - Characterized by **thyroid follicle formation** and can be associated with **iodine deficiency**, but not with MEN syndromes. - It usually presents as a **solitary thyroid nodule** and lacks connection with **primary hyperparathyroidism**.
Question 9: All of the following are seen in MEN 2B except which of the following?
- A. Neuromas
- B. Pheochromocytoma
- C. Medullary carcinoma thyroid
- D. Hyperparathyroidism (Correct Answer)
Explanation: ***Hyperparathyroidism*** - **Hyperparathyroidism** is a characteristic feature of **MEN 1** and **MEN 2A**, but it is typically **absent in MEN 2B**. - MEN 2B is primarily associated with **RET gene mutations** that do not commonly lead to parathyroid gland hyperplasia or adenomas. *Neuromas* - **Mucosal neuromas**, particularly in the lips, tongue, and gastrointestinal tract, are a **hallmark feature of MEN 2B**. - These benign tumors are a key diagnostic clue for this syndrome. *Medullary carcinoma thyroid* - **Medullary thyroid carcinoma (MTC)** is a **nearly universal and aggressive component of MEN 2B**, arising from parafollicular C-cells. - It is often the presenting feature and requires early detection and thyroidectomy due to its high metastatic potential. *Pheochromocytoma* - **Pheochromocytoma**, a tumor of the adrenal medulla, occurs in approximately 50-70% of individuals with **MEN 2B**. - It can cause severe hypertension and is an important component of the syndrome that needs to be screened for due to its potential for life-threatening hypertensive crises.
Question 10: A 27-year-old woman presents with 26 weeks of gestation with a thyroid lesion which is found to be papillary carcinoma of thyroid. Which is the best treatment for this patient?
- A. Hemi-thyroidectomy
- B. Total thyroidectomy
- C. Thyroid ablation using radioactive Iodine
- D. Observation (Correct Answer)
Explanation: ***Observation*** - For **papillary thyroid carcinoma** diagnosed at **26 weeks of gestation**, **observation with close monitoring** is the best management approach. - At 26 weeks (late second trimester/approaching third trimester), the optimal surgical window (14-24 weeks) has passed, and surgery in the third trimester carries increased risk of preterm labor and maternal complications. - **Papillary thyroid carcinoma** has an **indolent course**, and delaying definitive treatment by 3-4 months until after delivery poses **minimal risk** to the mother. - **Close monitoring with ultrasound** should be performed, and **total thyroidectomy** should be planned for **after delivery**. - Surgery during pregnancy is only indicated for **rapidly growing tumors** or evidence of **aggressive features**, which are not mentioned in this case. *Total thyroidectomy* - While **total thyroidectomy** is the definitive treatment for papillary thyroid carcinoma, the **timing is critical** during pregnancy. - Surgery is ideally performed in the **second trimester (14-24 weeks)** to minimize risks to both mother and fetus. - At **26 weeks**, the patient is beyond the optimal surgical window, and performing surgery at this stage or in the third trimester increases the risk of **preterm labor** and other obstetric complications. - Definitive surgery should be **deferred until after delivery** unless there are aggressive features requiring urgent intervention. *Hemi-thyroidectomy* - **Hemi-thyroidectomy** is inadequate for papillary thyroid carcinoma and is only considered for very low-risk papillary microcarcinomas (<1 cm). - It does not provide adequate oncological control for diagnosed papillary carcinoma. *Thyroid ablation using radioactive Iodine* - **Radioactive iodine ablation** is absolutely **contraindicated during pregnancy** due to the risk of fetal thyroid destruction, leading to congenital hypothyroidism or cretinism. - While it is used as adjuvant therapy post-thyroidectomy in non-pregnant patients, it must be delayed until after delivery and cessation of breastfeeding.
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