UPSC-CMS 2024 - Pathology PYQs Practice Questions

Q: Which of the following genetic syndromes are associated with brain tumours? 1. Neurofibromatosis type 1 2. Neurofibromatosis type 2 3. Tuberous sclerosis 4. Wiskott-Aldrich syndrome Select the answer using the code given below.

1, 2 and 3. ***1, 2 and 3*** - **Neurofibromatosis type 1 (NF1)**, **Neurofibromatosis type 2 (NF2)**, and **Tuberous sclerosis (TSC)** are all well-established genetic syndromes associated with an increased risk of developing various brain tumors [1]. - NF1 is linked to **optic pathway gliomas**, NF2 to **schwannomas** and **meningiomas**, and TSC to **subependymal giant cell astrocytomas (SEGAs)** [1], [2]. *1 and 2 only* - This option is incomplete as it correctly identifies NF1 and NF2 but omits Tuberous sclerosis, which is also strongly associated with brain tumours [1]. - While NF1 and NF2 are major genetic risk factors for brain tumors, excluding TSC would be an inaccurate representation of conditions linked to these abnormalities [1]. *1, 3 and 4* - This option incorrectly includes **Wiskott-Aldrich syndrome (WAS)**, which is an **immunodeficiency disorder** and not typically associated with primary brain tumours. - Although WAS can lead to an increased risk of lymphomas, these are generally not considered primary brain tumors [1] in the context of genetic syndromes predisposing to such growths. *2, 3 and 4* - This option again incorrectly includes **Wiskott-Aldrich syndrome** while omitting **Neurofibromatosis type 1**, a significant genetic syndrome linked to brain tumors [1]. - Omitting NF1, a condition known for an increased risk of gliomas, renders this option incomplete and inaccurate. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Manifestations Of Central And Peripheral Nervous System Disease, pp. 724-725. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Central Nervous System, pp. 1318-1319. [Practice more Pathology PYQs on OnCourse]

Q: The most common type of brain tumour associated with neurofibromatosis type 1 is

astrocytoma. ***Astrocytoma*** - **Pilocytic astrocytoma** is the most common brain tumor associated with **Neurofibromatosis type 1 (NF1)**, particularly in children and young adults [1]. - These tumors often occur in the **optic pathways**, **brainstem**, or **cerebellum** in patients with NF1. *Acoustic neuroma* - **Vestibular schwannomas** (acoustic neuromas) are characteristic of **Neurofibromatosis type 2 (NF2)**, not NF1 [2]. - NF2 typically involves **bilateral vestibular schwannomas** and other cranial nerve tumors [2]. *Meningioma* - Meningiomas are also more commonly associated with **NF2**, though they can occur sporadically [2]. - They are generally less common in NF1 patients and are not considered the hallmark brain tumor. *Medulloblastoma* - Medulloblastoma is a **highly malignant primary brain tumor** that occurs predominantly in children but is not specifically linked to NF1 [1]. - Its presence is not a defining feature of the NF1 syndrome. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. The Central Nervous System, pp. 1319-1320. [2] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Manifestations Of Central And Peripheral Nervous System Disease, pp. 724-728. [Practice more Pathology PYQs on OnCourse]

Question 1

Which of the following are correct regarding Li-Fraumeni syndrome?

1. It has autosomal dominant inheritance and is associated with P53 gene.
2. It has autosomal recessive inheritance and is associated with P53 gene.
3. It is associated with an increased risk of sarcomas and leukaemia.
4. It is associated with an increased risk of brain tumours and osteosarcomas. Select the answer using the code given below.

Accepted Answer

1, 3 and 4

Answer

1 and 4 only

Answer

1 and 3 only

Answer

1 only

Question 2

Which of the following genetic syndromes are associated with brain tumours?

1. Neurofibromatosis type 1
2. Neurofibromatosis type 2
3. Tuberous sclerosis
4. Wiskott-Aldrich syndrome

Select the answer using the code given below.

Accepted Answer

1, 2 and 3

Answer

1, 3 and 4

Answer

1 and 2 only

Answer

2, 3 and 4

Question 3

Which of the following are metabolic causes of splenic enlargement?

Accepted Answer

Amyloid and Gaucher's disease

Answer

Porphyria and Felty's syndrome

Answer

Myelofibrosis and Weil's disease

Answer

Rickets and Still's disease

Question 4

The most common type of brain tumour associated with neurofibromatosis type 1 is

Accepted Answer

astrocytoma

Answer

acoustic neuroma

Answer

meningioma

Answer

medulloblastoma

Question 5

Which of the following are correct regarding pathology of stress urinary incontinence?

1. Hypermobility of urethra
2. Descent of bladder neck and proximal urethra below pelvic diaphragm
3. Lowered urethral pressure
4. Increased detrusor activity

Accepted Answer

1, 2 and 3

Answer

2 and 4

Answer

3 and 4

Answer

1, 2 and 4

Answer

1 and 2

UPSC-CMS 2024 — Pathology