SolidTumors-H&N,Thyroid,Skin,CNS Flashcards
Where is HPV-associated SCC usually found?
Oropharynx
- Base of tongue
- Tonsils
*70% of SCC in these sites are p16+
Multiple Endocrine Neoplasia type I (MEN1; Wermer syndrome):
-Genetics/Chr
Germline MEN1 gene mutations
-Chr11
MEN type I neoplasms. (7)
- Parathyroid Adenoma
- Pituitary Adenoma
- Pancreatic Islet Cell tumors
- Angiofibromas (facial)
- Collagenomas
- Lipomas
- Meningiomas
MEN2A is AKA what?
Sipple syndrome
MEN2A, MEN2B, and familial Medullary Thyroid Carcinoma (FMTC) are all caused by mutations in what gene/chromosome?
RET protooncogene
-chr10q
MEN2A (Sipple syndrome) neoplasms. (3)
- Medullary carcinoma
- Pheochromocytoma
- Parathyroid adenoma
MEN2A mutations involve what exons?
10 and 11
MEN2B neoplasms/features. (5)
- Medullary carcinoma
- Pheochromocytomas
- Mucosal Neuromas
- Ganglioneuromatous GI polyps
- Marfinoid habitus
MEN2B mutations involve what exon?
16
Approximately 40% of sporadic Papillary Thyroid Carcinomas have somatic mutations in what gene?
RET
What is the most common mutation in Papillary Thyroid Carcinoma?
-Variants %
BRAF V600E - Aggressive Behavior
- Conventional (60%)
- Tall Cell (80%)
- Follicular (10%)
Mutations in BRAF, RET, and RAS are associated with PTC, all of these canuse what?
Unregulated MAPK stimulation
Nearly all PTC with follicular architecture have what mutation?
RAS
What is the most common mutation in cutaneous Melanoma that are NOT associated with sun damage?
-Responds to what treatment?
BRAF (pV600E predominantly)
-Inhibitor of BRAF kinase
30% of melanomas are associated with what mutation?
-Responds to what treatment?
C-KIT
-TKI (Imatinib)
DFSP translocation.
-Also seen in what?
COL1A1/PDGFB
-Pediatric Giant Cell Fibroblastoma
Tumors acquiring what genetic anomalies differentiated into Astrocytomas?
-Oligodendrogliomas?
Astrocytomas:
-chr17p13 (TP53)
Oligos:
-1p/19q deletions
Progression to grade IV glioma (secondary GBM) is usually marked by what?
Loss of 10q
Primary GBM (not arising from low grade glioma) shows what genetic abnormalities? (3)
- EGFR amplification
- PTEN mutations
- 10q loss
T/F: EGFR amplification and TP53 mutations often coexist in same tumor.
FALSE
-EGFR and TP53 mutations RARELY coexist
Some GBMs show what genetic abnormality?
-Status of this profoundly impacts response to what?
MGMT gene silencing (promoter hypermethylation)
-Temozolamide/Radiotherapy
*Unsuppressed MGMT tumors are Resistant
Mutation in what gene appears to be the sole inciting genetic event in Pilocytic Astrocytomas?
BRAF mutations (80%)
*Rare in diffuse astrocytomas
Retinoblastoma gene/chr mutation?
RB1 gene on chr13
Retinoblastoma inheritance.
90% sporadic
-10% ass. w/ germline defect in one copy of RB1 gene
