Neoplasia Practice Questions

Q: A 40-year-old man presented with painless haematuria. Bimanual examination revealed a ballotable mass over the right flank. Subsequently, right nephrectomy was performed, and the mass was found to be composed of cells with clear cytoplasm. Areas of haemorrhage and necrosis were frequent. Cytogenetic analysis of this mass is likely to reveal the abnormality of which chromosome?

Chromosome 3. ***Chromosome 3*** [1][2] - Associated with **clear cell renal carcinoma**, which is indicated by the presentation of a **painless mass and hematuria** in the patient [3]. - Cytogenetic analysis often reveals **aberrations involving chromosome 3, particularly 3p deletions** [2]. *Chromosome 17* - Notably associated with **other cancers** like breast cancer (BRCA1) and not specifically linked to renal cell carcinoma. - Cytogenetic abnormalities in this chromosome are less relevant for **clear cell features** observed in the tumor. *Chromosome 1* - This chromosome is involved in the genetic predisposition of various tumors but is **not primarily associated** with clear cell renal carcinoma. - There are no specific **cytogenetic alterations** related to this type of kidney cancer found on chromosome 1. *Chromosome 11* - Although chromosome 11 can have alterations in some cancers, it is **not directly related** to clear cell renal carcinoma. - Functions of this chromosome are more commonly linked with **Wilms' tumor or other hematological malignancies**. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Kidney, p. 959. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Kidney, pp. 958-959. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Kidney, pp. 959-961.

Q: Most common secondary tumor associated with Retinoblastoma is

Osteosarcoma. ***Osteosarcoma*** - **Osteosarcoma** is the most common secondary malignancy associated with retinoblastoma, especially in patients with the **hereditary form** of the disease who have a germline mutation in the *RB1* tumor suppressor gene [1]. - Patients treated with **radiation therapy** for retinoblastoma are at an increased risk of developing osteosarcoma within the radiation field, as well as other secondary cancers. *Neuroblastoma* - **Neuroblastoma** is a childhood cancer that develops from immature nerve cells (neuroblasts) found in several areas of the body, most commonly the **adrenal medulla**, but it is not typically associated as a secondary malignancy of retinoblastoma. - While both are childhood cancers, there is **no direct genetic or etiological link** that makes neuroblastoma a common secondary tumor to retinoblastoma. *Pineoblastoma* - **Pineoblastoma** is a rare, aggressive tumor of the pineal gland and is associated with **trilateral retinoblastoma**, a specific presentation where bilateral retinoblastoma is accompanied by an intracranial tumor of the pineal region. - Although it occurs in conjunction with retinoblastoma in some cases, it is a specific presentation rather than the **most common secondary malignancy** overall. *Osteochondroma* - An **osteochondroma** is a benign (non-cancerous) bone tumor, often growing near the ends of long bones [2]. - It is a common benign bone tumor in children and adolescents, but it is **not a malignancy** and is not typically associated with retinoblastoma as a secondary cancer [1]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Bones, Joints, and Soft Tissue Tumors, pp. 1200-1202. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Osteoarticular And Connective Tissue Disease, pp. 671-673.

Q: The cytogenetics of chromophilic renal cell carcinoma is characterized by:

Trisomy 7/17. ***Trisomy 7/17*** - Chromophilic renal cell carcinoma is notably characterized by **trisomy of chromosomes 7 and 17**, which is frequently observed in these tumors [1]. - This genetic alteration is associated with **proliferative changes** in renal cells leading to tumor development. *Loss 3p* - Loss of the **3p chromosome** is more commonly associated with **clear cell renal cell carcinoma**, not chromophilic types [1]. - It involves the **VHL gene**, which is not a primary characteristic of chromophilic renal cell carcinoma. *Mutant VHL gene* - Mutations in the **VHL gene** are primarily linked with **clear cell renal cell carcinoma** and hereditary conditions like **Von Hippel-Lindau syndrome**. - Chromophilic renal cell carcinoma typically does not involve these mutations as a defining feature. *Loss of 5q3* - Loss of **5q3** is not a recognized hallmark for chromophilic renal cell carcinoma; it lacks significance in this context. - This genetic aberration is often unrelated to the development or progression of chromophilic tumors. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Kidney, pp. 957-959.

Q: What type of thyroid carcinoma is most commonly associated with long-standing non-toxic goitre?

Follicular thyroid carcinoma. ***Follicular thyroid carcinoma*** - **Follicular carcinoma** is the thyroid malignancy most classically associated with **long-standing non-toxic multinodular goiter** [1] - It accounts for approximately **10-15% of thyroid cancers** and arises from **follicular epithelial cells** - Strong association with **iodine-deficient endemic goiter regions** where long-standing goiters are common [1] - Can develop from **follicular adenomas** or arise de novo in nodular goiters [1] - Diagnosis requires demonstration of **capsular or vascular invasion** on histology [1] *Papillary thyroid carcinoma* - While papillary carcinoma is the **most common thyroid cancer overall** (70-80% of cases), it is **not** the type most associated with long-standing non-toxic goiter [1] - More strongly associated with **radiation exposure** to the head and neck [1] - Can occur in goiters but this is not its classical association - Characterized by **papillary architecture** and distinctive nuclear features (ground glass nuclei, nuclear grooves) *Anaplastic thyroid carcinoma* - Highly aggressive **undifferentiated** thyroid cancer with very poor prognosis - May arise from **pre-existing differentiated thyroid cancers** (follicular or papillary) in some cases - Presents with **rapid growth, invasion**, and bulky neck mass - Not the primary association with slowly progressive non-toxic goiter *Medullary thyroid carcinoma* - Arises from **parafollicular C cells** that produce **calcitonin**, not follicular epithelium - Associated with **MEN 2A and MEN 2B syndromes** and **RET proto-oncogene mutations** - **No association** with non-toxic goiter or follicular pathology - Represents about 5% of thyroid cancers **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Endocrine System, pp. 1094-1099.

Q: Anaplasia in Wilms' tumor is evident by what features?

Pleomorphic nuclei. ***Pleomorphic nuclei*** - Anaplastic cells in Wilm's tumor are characterized by **pleomorphic nuclei**, indicating significant variation in size and shape typical of malignancy [1]. - The presence of pleomorphic nuclei suggests loss of **cellular differentiation**, a hallmark of anaplasia [2]. *Increased mitosis* - While increased mitotic figures can indicate a **growing tumor**, it does not specifically denote **anaplasia** itself. - Mitosis can be observed in both benign and malignant lesions, making it a non-specific indicator. *p53 mutation* - Although p53 mutations are associated with many cancers, they are not specific to **anaplastic features** in Wilm's tumor. - Anaplastic histology is defined by nuclear characteristics rather than specific genetic mutations. *Large nucleus* - While anaplastic cells can have large nuclei, the **pleomorphism** in size and shape is more definitive for anaplasia [1]. - Simply having a large nucleus does not necessarily reflect the **abnormal variability** that characterizes anaplasia. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Neoplasia, p. 278. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Neoplasia, pp. 276-278.

Q: Which of the following markers is typically elevated in small cell lung carcinoma?

Chromogranin. ***Chromogranin*** - **Chromogranin A** is a **neuroendocrine marker** frequently elevated in small cell lung carcinoma (SCLC), which has neuroendocrine features. - SCLC cells originate from **neuroendocrine cells** in the bronchial epithelium and exhibit characteristics of these cells. *Cytokeratin* - **Cytokeratins** are **intermediate filaments** primarily found in **epithelial cells** and are commonly expressed in non-small cell lung carcinomas (NSCLC). - While some SCLC cells can express certain cytokeratins, it is not considered a specific or typically elevated marker for SCLC diagnosis compared to neuroendocrine markers. *Desmin* - **Desmin** is an **intermediate filament** characteristic of **muscle cells** (smooth, skeletal, and cardiac muscle). - Its presence is associated with muscle-derived tumors like **rhabdomyosarcoma** and **leiomyosarcoma**, not lung carcinomas. *Vimentin* - **Vimentin** is an **intermediate filament** expressed in **mesenchymal cells** (e.g., fibroblasts, endothelial cells) and is often associated with mesenchymal tumors. - While some epithelial tumors can undergo epithelial-to-mesenchymal transition and express vimentin, it is not a primary diagnostic marker for SCLC.

Q: What is the most common germ cell tumor overall?

Teratoma. ***Teratoma*** - Teratomas are the **most common germ cell tumors** [1][2][5], often arising in the **gonads** but can also occur in extragonadal sites. - These tumors are characterized by their ability to differentiate into various tissue types, including **hair, muscle, and bone** [1][3]. *Mixed germ cell tumor* - While they can occur, mixed germ cell tumors comprise various types and are not as common as **teratomas** [2][5]. - They usually consist of different germ cell components leading to a more complex histology [2]. *Choriocarcinoma* - Choriocarcinoma is a rare and aggressive **germ cell tumor** that arises from trophoblastic tissue and is less common than **teratomas** [4]. - It is typically associated with elevated **beta-hCG** levels and has a characteristic **placental pattern** [4]. *Endodermal sinus tumor* - Endodermal sinus tumors, also known as **yolk sac tumors**, are a type of germ cell tumor but are notably less common than **teratomas** [2]. - They are distinguished by the presence of **Schiller-Duval bodies** on histological examination. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Female Genital Tract Disease, pp. 480-481. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Lower Urinary Tract and Male Genital System, pp. 979-980. [3] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Lower Urinary Tract and Male Genital System, pp. 982-983. [4] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Lower Urinary Tract and Male Genital System, p. 982. [5] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Female Genital Tract, pp. 1035-1036.

Q: Among the following, keratin (cytokeratin) immunohistochemistry is MOST specifically used as a tumor marker for

Squamous cell carcinoma (SCC). ***Squamous cell carcinoma (SCC)*** - While **keratin (cytokeratin)** is an intermediate filament protein found in **all epithelial tumors**, the question asks which tumor it is **most specifically** used to identify among the given options. - **High molecular weight keratins** (CK5/6, CK14) are particularly characteristic of **squamous differentiation** and SCC. - When differentiating between epithelial and non-epithelial tumors from this list, keratin expression definitively identifies SCC as epithelial in origin. - Pan-cytokeratin staining is routinely used to confirm epithelial differentiation in poorly differentiated carcinomas. *Adenocarcinoma* - Adenocarcinomas are also **epithelial tumors** and do express cytokeratins (typically **low molecular weight keratins** like CK7, CK8, CK18, CK19). - However, adenocarcinomas are better characterized by **glandular differentiation** and expression of specific markers like CEA, MUC1, or organ-specific markers. - The keratin profile differs from SCC, with adenocarcinomas showing predominantly low MW keratins. *Rhabdomyosarcoma (RMS)* - RMS is a **mesenchymal tumor** derived from skeletal muscle precursors and is **keratin-negative**. - RMS expresses **muscle-specific markers**: desmin, myogenin, MyoD1, and muscle-specific actin. - The absence of keratin helps distinguish RMS from epithelial malignancies. *Choriocarcinoma (CC)* - Choriocarcinoma is a **germ cell/trophoblastic tumor** that may show variable keratin expression. - The definitive marker for choriocarcinoma is **human chorionic gonadotropin (hCG)**, not keratin. - Diagnosis relies on hCG levels and histologic identification of syncytiotrophoblasts and cytotrophoblasts, not keratin staining.

Question 1

A 40-year-old man presented with painless haematuria. Bimanual examination revealed a ballotable mass over the right flank. Subsequently, right nephrectomy was performed, and the mass was found to be composed of cells with clear cytoplasm. Areas of haemorrhage and necrosis were frequent. Cytogenetic analysis of this mass is likely to reveal the abnormality of which chromosome?

Accepted Answer

Chromosome 3

Answer

Chromosome 1

Answer

Chromosome 11

Answer

Chromosome 17

Question 2

Most common secondary tumor associated with Retinoblastoma is

Accepted Answer

Osteosarcoma

Answer

Pineoblastoma

Answer

Neuroblastoma

Answer

Osteochondroma

Question 3

The cytogenetics of chromophilic renal cell carcinoma is characterized by:

Accepted Answer

Trisomy 7/17

Answer

Loss of chromosome 3p

Answer

Loss of chromosome 5q3

Answer

Mutant VHL gene

Question 4

Which classification system is currently used in North America for Wilms' tumor based on surgical and pathological findings?

Accepted Answer

COG (Children's Oncology Group) classification

Answer

SIOP (International Society of Pediatric Oncology Classification)

Answer

UICC (Union for International Cancer Control Classification)

Answer

NWTS V (National Wilms Tumor Study V)

Question 5

Which of the following has the least malignant potential?

Accepted Answer

Juvenile polyps associated with juvenile polyposis syndrome

Answer

Hamartomatous polyps associated with Peutz-Jeghers syndrome

Answer

Adenomatous polyps associated with Familial adenomatous polyposis

Answer

Adenomatous polyps associated with Lynch syndrome (HNPCC)

Question 6

What type of thyroid carcinoma is most commonly associated with long-standing non-toxic goitre?

Accepted Answer

Follicular thyroid carcinoma

Answer

Medullary thyroid carcinoma

Answer

Papillary thyroid carcinoma

Answer

Anaplastic thyroid carcinoma

Question 7

Anaplasia in Wilms' tumor is evident by what features?

Accepted Answer

Pleomorphic nuclei

Answer

p53 mutation

Answer

Increased cell division

Answer

Enlarged nucleus

Question 8

Which of the following markers is typically elevated in small cell lung carcinoma?

Accepted Answer

Chromogranin

Answer

Cytokeratin

Answer

Desmin

Answer

Vimentin

Question 9

What is the most common germ cell tumor overall?

Accepted Answer

Teratoma

Answer

Choriocarcinoma

Answer

Endodermal sinus tumor

Answer

Seminoma

Question 10

Among the following, keratin (cytokeratin) immunohistochemistry is MOST specifically used as a tumor marker for

Accepted Answer

Squamous cell carcinoma (SCC)

Answer

Adenocarcinoma

Answer

Rhabdomyosarcoma (RMS)

Answer

Choriocarcinoma (CC)

Neoplasia — MCQs

Neoplasia — MCQs

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