PATH TRIVIA

Question 1

List EBV+ neoplasms (at least 5)

Answer 1

Burkitt lymphoma
Hodgkin lymphoma
EBV+ mucocutaneous ulcer

Gastric carcinoma
Nasopharyngeal carcinoma
Lymphomatoid granulomatosis 
Post-transplant lymphoproliferative disorder
Lymphoepithelial carcinoma

Angioimmunoblastic T-cell lymphoma
Plasmablastic lymphoma
Primary effusion lymphoma
Primary CNS lymphoma
EBV+ DLBCL

Inflammatory pseudotumor-like follicular dendritic cell sarcoma

Question 2

List 3 neoplasms associated with HHV-8

Answer 2

Primary effusion lymphoma
Kaposi sarcoma
HHV+ DLBCL

Question 3

List 3 tissue tests for EBV

Answer 3

1. EBER ISH
2. LMP-1 IHC (membranous; good for AIDS-related lymphomas [PEL & plasmablastic] & PTLD)
3. EBNA (EBV nuclear antigen; least sensitive, only for PTLD and AIDS-related).
4. EBV DNA PCR

serum:

4. IgA serum anti-EBV antibodies
5. IgG/IgA early EBV antigen antibodies

Question 4

List four types of DNA variation detectable by NGS.

Answer 4

1. Single nucleotide deletions/insertions (variants)
2. Indels
3. Copy-number alterations
4. Translocation breakpoints
   (5. bonus: will also detect pathogen/non-human sequences)

Question 5

List 3 risk factors for EBV-related malignancy

Answer 5

HIV
Solid organ transplant
Duncan disease (X-linked SH2D1a mutation - die of overwhelming acute EBV infection or succumb to EBV+ B-cell lymphoma; robbins p. 358).

Question 6

List 5 manifestations of acute liver failure

Answer 6

Cholestasis
Hepatic encephalopathy
Hepatorenal syndrome
Coagulopathy
Portal hypertension

Question 7

List 3 cancers caused by Epigenetic modification.

Answer 7

1. MLH promoter hypermethylation - sporadic colon cancer
2. ARID1A Chromatin remodelling - Clear cell carcinoma of the ovary
3. SNF5 - chromatin remodelling - Malignant rhabdoid tumor

see Robbins table. 7.9, page 319 for more examples

Question 8

List 3 paraneoplastic syndromes involving the CNS

Answer 8

Subacute cerebellar degeneration (anti-YO antibody, associated with ovary, uterus, breast cancer)

Limbic encephalitis (small cell)

NMDA receptor encephalitis (Ovarian teratoma)

Opsoclonus-Myoclonus (neuroblastoma)

Question 9

List 3 tumors seen in NF2

Answer 9

Ependymomas

Bilateral CNVIII schwannomas

multiple meningiomas

Question 10

What brain tumor is associated with Tuberous Sclerosis?

Answer 10

SEGA (subependymal giant cell astrocytoma)

Other tumors:

cortical tubers
renal angiomyolipomas
retinal glial hamartomas
pulmonary LAM
cardiac Rhabdomyomas

Question 11

List 4 cutaneous lesions seen in Tuberous Sclerosis

Answer 11

Angiofibroma
Shagreen patch
Ash-leaf macule
subungual fibroma

Question 12

What are the genes and their function that are mutated in Tuberous Sclerosis?

Answer 12

Hamartin (TSC1)
Tuberin (TSC2)

Forms complex with mTOR; regulates mTOR pathway which is involved in regulation of protein synthesis and anabolic metabolism.