Neoplasia Practice Questions

Q: Which of the following is NOT a familial breast cancer gene?

P16. ### Explanation The correct answer is **C. P16**. **Why P16 is the correct answer:** The **P16/INK4a** gene (located on chromosome 9p21) is a tumor suppressor gene that regulates the cell cycle by inhibiting Cyclin-Dependent Kinases (CDK4/6) [1]. While it is a critical gene in oncology, its germline mutations are primarily associated with **Familial Melanoma** and **Pancreatic Cancer**, not familial breast cancer [1]. In the context of breast pathology, P16 immunohistochemistry is more commonly used as a surrogate marker for HPV infection in cervical or oropharyngeal cancers, rather than a screening tool for hereditary breast syndromes. **Analysis of Incorrect Options:** * **BRCA1 (Option A):** The most common cause of familial breast cancer (Chromosome 17q). It is associated with a high risk of medullary carcinoma of the breast and serous ovarian carcinoma. * **P53 (Option B):** Germline mutations in *TP53* (Chromosome 17p) cause **Li-Fraumeni Syndrome**. Breast cancer is one of the "core" cancers in this syndrome, often occurring at a very young age. * **PTEN (Option D):** Germline mutations in *PTEN* (Chromosome 10q) lead to **Cowden Syndrome**. This syndrome is characterized by multiple hamartomas and a significantly increased risk of breast, thyroid (follicular), and endometrial cancers. **High-Yield Clinical Pearls for NEET-PG:** * **BRCA2:** Located on Chromosome 13q; associated with **male breast cancer** and prostatic/pancreatic cancers. * **STK11:** Associated with **Peutz-Jeghers Syndrome**, which carries an increased risk of breast cancer. * **CHEK2:** A cell cycle checkpoint gene also implicated in moderate-risk familial breast cancer. * **CDH1:** Mutations lead to **Hereditary Diffuse Gastric Cancer** and are specifically linked to **Lobular Carcinoma** of the breast. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Neoplasia, pp. 297-306.

Q: Which of the following genetic mutations is involved in breast carcinoma?

BRCA. **Explanation:** **Correct Answer: B. BRCA** The **BRCA1 and BRCA2** genes are tumor suppressor genes involved in the repair of double-stranded DNA breaks via homologous recombination [1]. Mutations in these genes lead to genomic instability, significantly increasing the risk of **hereditary breast and ovarian cancer syndromes** [1]. BRCA1 is specifically associated with "triple-negative" breast cancers, while BRCA2 is linked to male breast cancer and prostatic carcinoma [1]. **Analysis of Incorrect Options:** * **A. APC (Adenomatous Polyposis Coli):** This is a tumor suppressor gene associated with the Wnt signaling pathway. Mutations are primarily linked to **Familial Adenomatous Polyposis (FAP)** and colorectal carcinoma, not breast cancer. * **C. HbAc:** This is a distractor. It likely refers to HbA1c (Glycated Hemoglobin), which is a clinical marker for long-term glucose control in Diabetes Mellitus, having no role in oncogenesis. * **D. RB Gene:** The Retinoblastoma (RB) gene is the "governor of the cell cycle" (regulating the G1-S checkpoint). While it is mutated in various cancers, its primary associations are **Retinoblastoma** and **Osteosarcoma**. **High-Yield NEET-PG Pearls:** * **BRCA1 Location:** Chromosome 17q21. * **BRCA2 Location:** Chromosome 13q12.3. * **Li-Fraumeni Syndrome:** Another hereditary cause of breast cancer involving the **TP53** mutation (the "guardian of the genome") [1]. * **HER2/neu (ERBB2):** A proto-oncogene (tyrosine kinase receptor) amplified in ~15-20% of breast cancers, serving as a target for Trastuzumab [1]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Breast, pp. 1058-1060.

Q: Increased expression of which of the following causes oncogenesis?

EGF receptor. The **Epidermal Growth Factor Receptor (EGFR)** is a transmembrane protein that plays a critical role in cell signaling pathways governing growth, proliferation, and survival [1]. In neuroanatomy and oncology, the overexpression or mutation of EGFR is a hallmark of several malignancies, most notably **Glioblastoma Multiforme (GBM)**—the most common and aggressive primary brain tumor [2]. Increased expression leads to constitutive activation of downstream pathways (like MAPK and PI3K/Akt), resulting in uncontrolled cellular division and oncogenesis [3]. **Analysis of Options:** * **B. EGF Receptor (Correct):** Its amplification is found in approximately 40-50% of GBM cases [2]. It is a classic proto-oncogene; when overexpressed, it bypasses normal regulatory checkpoints [1]. * **A. IGF Receptor:** While Insulin-like Growth Factor (IGF) signaling can promote cell survival, it is less frequently the primary driver of oncogenesis compared to the potent mitogenic signal of EGFR [3]. * **C. GH Receptor:** Growth Hormone receptors are primarily involved in systemic growth and metabolism. While GH excess (Acromegaly) increases the risk of certain polyps/cancers, it is not a direct cellular mechanism for primary neuro-oncogenesis. * **D. Aldosterone Receptor:** This is a nuclear receptor involved in fluid and electrolyte balance. It has no established role in the molecular pathogenesis of tumors. **High-Yield Clinical Pearls for NEET-PG:** * **EGFRvIII:** This is the most common mutation of the EGF receptor in Glioblastoma, characterized by a deletion that makes the receptor "always on." * **Targeted Therapy:** Drugs like **Erlotinib** and **Gefitinib** are EGFR tyrosine kinase inhibitors used in various cancers (though they have limited efficacy in GBM due to the blood-brain barrier). * **Glioblastoma Marker:** On histopathology, look for "pseudopalisading necrosis" and "vascular endothelial proliferation" alongside EGFR positivity.

Q: Sarcoma of the soft tissues spreads by which of the following routes?

Blood vessels. **Explanation:** **1. Why Blood Vessels (Hematogenous Spread) is Correct:** The primary mode of metastasis for **sarcomas** (malignant tumors of mesenchymal origin) is the hematogenous route [1]. This occurs because sarcomas are typically highly vascularized and lack a well-developed lymphatic drainage system within the tumor stroma. Consequently, malignant cells invade thin-walled veins and capillaries, commonly leading to secondary deposits in the **lungs** (the most frequent site of distant metastasis for most sarcomas) [1]. **2. Analysis of Incorrect Options:** * **Lymphatics:** This is the characteristic route for **carcinomas** (malignant tumors of epithelial origin) [1]. While most sarcomas avoid lymphatics, there are notable exceptions (see Clinical Pearls). * **Direct Invasion & Local Infiltration:** While sarcomas are locally aggressive and infiltrate surrounding tissues (muscles, fascia), these terms describe **local growth patterns** rather than the primary route of distant metastasis. In the context of "spread" in oncology exams, the question usually refers to the mode of systemic dissemination. **3. Clinical Pearls for NEET-PG:** * **The "Rule of Exceptions":** While sarcomas spread via blood, remember the mnemonic **SCARE** for sarcomas that frequently spread via **lymphatics**: * **S**ynovial sarcoma * **C**lear cell sarcoma * **A**ngiosarcoma * **R**habdomyosarcoma * **E**pithelioid sarcoma * **Carcinoma Exception:** Conversely, Renal Cell Carcinoma (RCC), Hepatocellular Carcinoma (HCC), Follicular Carcinoma of Thyroid, and Choriocarcinoma prefer **hematogenous spread** over lymphatics [1]. * **First Site:** For most sarcomas, the first evidence of hematogenous spread is seen on a Chest X-ray or CT as "cannon-ball" pulmonary nodules [1]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Neoplasia, p. 282.

Question 1

Which of the following is NOT a familial breast cancer gene?

Accepted Answer

P16

Answer

BRCA1

Answer

P53

Answer

PTEN

Question 2

Mutation in the p53 gene is associated with which malignancy?

Accepted Answer

Colorectal carcinoma

Answer

Endometrial carcinoma type 1

Answer

Retinoblastoma

Answer

Prostate cancer

Question 3

Which of the following genetic mutations is involved in breast carcinoma?

Accepted Answer

BRCA

Answer

APC

Answer

HbAc

Answer

RB gene

Question 4

All of the following are examples of a round cell tumor, except?

Accepted Answer

Haemangioblastoma

Answer

Neuroblastoma

Answer

Ewing's sarcoma

Answer

Medulloblastoma

Question 5

Increased expression of which of the following causes oncogenesis?

Accepted Answer

EGF receptor

Answer

IGF receptor

Answer

GH receptor

Answer

Aldosterone receptor

Question 6

Kaposi sarcoma associated herpes virus causes all of the following, except?

Accepted Answer

Burkitt's lymphoma

Answer

Primary effusion lymphoma

Answer

Castleman disease

Answer

Kaposi sarcoma

Question 7

Which autosomal recessive condition presents as a cancer syndrome in children?

Accepted Answer

Ataxia-telangiectasia

Answer

Neurofibromatosis

Answer

Sturge-Weber syndrome

Answer

Tuberous sclerosis complex

Question 8

Which of the following is true about oncogenes?

Accepted Answer

They are transduced from virus-infected cells

Answer

Present in normal cells

Answer

They are of viral origin

Answer

P53 is the most common oncogene mutation causing malignancy

Question 9

Sarcoma of the soft tissues spreads by which of the following routes?

Accepted Answer

Blood vessels

Answer

Lymphatics

Answer

Direct invasion

Answer

Local infiltration

Question 10

All of the following are examples of tumour markers, except:

Accepted Answer

Alpha-HCG

Answer

AFP

Answer

NSE

Answer

CEA

Neoplasia — MCQs

Neoplasia — MCQs

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