Endocrine Pathology Practice Questions

Q: A 10-year-old child presents with new onset of visual field abnormalities and diabetes insipidus. A head CT reveals a 3 cm mass lesion with focal calcification superior to the sella turcica. Needle biopsy of this mass shows tumor tissue resembling tooth enamel. What is the most likely diagnosis?

Craniopharyngioma. **Explanation:** The clinical presentation and imaging findings are classic for a **Craniopharyngioma**, specifically the **Adamantinomatous type**, which is the most common subtype in children. **1. Why Craniopharyngioma is correct:** * **Origin:** These tumors arise from remnants of **Rathke’s pouch**. * **Location:** They are typically **suprasellar**, explaining the compression of the optic chiasm (visual field defects) and the pituitary stalk/hypothalamus (diabetes insipidus). * **Imaging:** The "Rule of 90%" applies to pediatric craniopharyngiomas: 90% are cystic, 90% show **calcification** (as seen on this CT), and 90% enhance. * **Histology:** The description "resembling tooth enamel" refers to the **Adamantinomatous** pattern, characterized by palisading epithelium and "wet keratin." **2. Why the other options are incorrect:** * **Glioblastoma Multiforme:** Typically occurs in older adults and is an intra-axial hemispheric tumor, not a calcified suprasellar mass in a child. * **Large Pituitary Adenoma:** Rare in children. While they cause visual defects, they are usually solid, arise *within* the sella (expanding it), and rarely show the heavy calcification seen here. * **Medulloblastoma:** This is a posterior fossa tumor arising from the cerebellum. It presents with ataxia and obstructive hydrocephalus, not suprasellar symptoms. **High-Yield Pearls for NEET-PG:** * **Bimodal Age Distribution:** Peaks at 5–14 years and 50–75 years. * **Machinery Oil Fluid:** On aspiration, the cysts contain dark, cholesterol-rich fluid. * **Papillary Type:** More common in adults; usually solid, lacks calcification, and lacks the "tooth enamel" histology. * **Imaging Hallmark:** CT is superior for detecting the characteristic calcification.

Q: Multiple submucosal neuromas are most likely associated with which of the following conditions?

Medullary carcinoma of the thyroid. The presence of **multiple submucosal neuromas** (typically involving the tongue, lips, and eyelids) is a pathognomonic clinical sign of **Multiple Endocrine Neoplasia Type 2B (MEN 2B)**. **1. Why Medullary Carcinoma of the Thyroid is correct:** MEN 2B is an autosomal dominant syndrome caused by a mutation in the **RET proto-oncogene**. It is characterized by a triad of: * **Medullary Carcinoma of the Thyroid (MTC):** Occurs in 100% of cases, is aggressive, and often appears in early childhood. * **Pheochromocytoma:** Often bilateral [1]. * **Mucosal Neuromas and Marfanoid Habitus:** These are the distinguishing features that separate MEN 2B from MEN 2A [1]. Since MTC is a core component of this syndrome, it is the most likely association. **2. Why the other options are incorrect:** * **Ovarian Carcinoma:** Not associated with MEN syndromes or mucosal neuromas. * **Testicular Teratoma:** A germ cell tumor with no link to the RET mutation or neuroendocrine syndromes. * **Pancreatic Beta Cell Carcinoma (Insulinoma):** While pancreatic endocrine tumors are a hallmark of **MEN 1 (Wermer Syndrome)**, they are not associated with mucosal neuromas or MEN 2B. **High-Yield Clinical Pearls for NEET-PG:** * **MEN 2A (Sipple Syndrome):** MTC + Pheochromocytoma + Parathyroid Hyperplasia [1]. * **MEN 2B (Williams-Pollock Syndrome):** MTC + Pheochromocytoma + Mucosal Neuromas + Marfanoid Habitus. * **Key Difference:** MEN 2A has Hyperparathyroidism; MEN 2B has Neuromas/Marfanoid features [1]. * **Prophylactic Thyroidectomy:** Recommended in MEN 2 patients due to the high risk of early-onset MTC. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Endocrine System, p. 1137.

Question 1

A 10-year-old child presents with new onset of visual field abnormalities and diabetes insipidus. A head CT reveals a 3 cm mass lesion with focal calcification superior to the sella turcica. Needle biopsy of this mass shows tumor tissue resembling tooth enamel. What is the most likely diagnosis?

Accepted Answer

Craniopharyngioma

Answer

Glioblastoma multiforme

Answer

Large pituitary adenoma

Answer

Medulloblastoma

Question 2

Medullary carcinoma of the thyroid is associated with which of the following syndromes?

Accepted Answer

Multiple Endocrine Neoplasia type II (MEN II)

Answer

Multiple Endocrine Neoplasia type I (MEN I)

Answer

Fraumeni syndrome

Answer

Hashimoto's thyroiditis

Question 3

Which of the following gene defects is associated with the development of medullary carcinoma of the thyroid?

Accepted Answer

RET proto-oncogene

Answer

APC gene

Answer

RB gene

Answer

BRCA1 gene

Question 4

Multiple submucosal neuromas are most likely associated with which of the following conditions?

Accepted Answer

Medullary carcinoma of the thyroid

Answer

Ovarian carcinoma

Answer

Testicular teratoma

Answer

Pancreatic beta cell carcinoma

Question 5

An autopsy is performed on an 8-year-old child with diabetes mellitus of recent onset who has died following an automobile accident. Which of the following autopsy findings would support the diagnosis of type 1 diabetes as contrasted to type 2 diabetes?

Accepted Answer

Insulitis

Answer

Amylin deposition in pancreatic islets

Answer

Armanni-Ebstein lesion

Answer

Kimmelstiel-Wilson nodules

Question 6

A 72-year-old woman with a long history of type-2 diabetes mellitus presents with abdominal pain. Physical examination reveals neuromuscular weakness and hypertension. Laboratory studies show markedly reduced serum calcium and elevated parathyroid hormone (PTH). A surgical exploration of the patient's neck demonstrates 4 symmetrically enlarged parathyroid glands. Which of the following underlying disorders may be causing this patient's endocrinopathy?

Accepted Answer

Renal insufficiency

Answer

Adrenal insufficiency

Answer

Chronic liver disease

Answer

Insulin deficiency

Question 7

Histopathology of which of the following tumors shows a Zellballen pattern?

Accepted Answer

Carotid body tumor

Answer

Gastrointestinal stromal tumor (GIST)

Answer

Astrocytoma

Answer

Retinoblastoma

Question 8

All of the following familial syndromes are associated with the development of pheochromocytomas except?

Accepted Answer

Prader-Willi syndrome

Answer

Sturge-Weber syndrome

Answer

Von Recklinghausen disease

Answer

MEN Type II

Question 9

A 75-year-old lady is diagnosed with thyroid malignancy and presents with low serum calcium. What is the most likely explanation?

Accepted Answer

Medullary carcinoma of the thyroid

Answer

Metastasis to the parathyroid glands

Answer

Follicular carcinoma of the thyroid

Answer

Papillary carcinoma of the thyroid

Question 10

In which of the following is medullary thyroid cancer the most aggressive form?

Accepted Answer

Multiple Endocrine Neoplasia type IIb (MEN IIb)

Answer

Multiple Endocrine Neoplasia type I (MEN I)

Answer

Multiple Endocrine Neoplasia type IIa (MEN IIa)

Answer

Sporadic medullary thyroid cancer cases

Endocrine Pathology — MCQs

Endocrine Pathology — MCQs

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