Cytogenetics

Question 1

CLL

Answer 1

Favorable:
-del(13q) as sole abnormality

Neutral:
-normal cytogenetics
-trisomy 12

Unfavorable:
-del(11q)
-del(17p)-reflects loss of TP53 tumor suppressor

Order of relevance: 17q > 11q >trisomy 12 > del13

ZAP-70 and CD38 overexpression: worse prognosis

Question 2

Tumor suppressor and oncogenes

Answer 2

Tumor suppressor:
-TP53
-BRCA
-RB1
-ATM
-PTEN

Oncogenes:
-BRAF
-EGFR
-FGFR
-KRAS
-MET
-PIK3CA

Question 3

CD10 positivity

Answer 3

Germinal center origin (FL, DLBCL, Burkitts)

Question 4

ICI PD-L1 and other requirements

Answer 4

pembrolizumab
-persistent/recurrent/ metastatic cervical: CPS 1+
-recurrent endometrial/ovarian: MSI-H, dMMR, TMB-H
-m1CRPC: MSI-H, dMMR, TMB 10+
-metastatic breast: CPS10+
-early stage breast: none
-head/neck SCC: CPS 1+ (monotherapy)
-gastric/esophageal (adeno): cps 1+, monotherapy is MSI-H
-esophageal SCC: msi-h-monotherapy , second line- CPS 10+
-NSCLC: PD-L1 1%+

nivolumab
-NSCLC: PD-L1 1%+
-esophageal SCC: combo- no req, no monotherapy like pembro
-gastric/esophageal (adeno), combo only (no mono like pembro)- cps>5

atezoliumab
-bladder: IC 5%+ (cisplatin ineligible)
-NSCLC: TC 50%+, IC 10%+

dostarlimab
-ovarian- dMMR, MSI-H, TMB-H
-also for advance endometrial

Question 5

Resource to help pick tx based on molecular test results

Answer 5

OncoKB

Question 6

Wilms tumor poor prognosis cytogenetics

Answer 6

LOH at chromosomes 1p and 16q

Question 7

Uveal melanoma mutations

Answer 7

GNA11 and GNAQ

Most commonly at Q209 in both of these genes