Genes and conditions/treatments

Question 1

Gastrointestinal stromal tumours (GISTs) gene?

Answer 1

c-KIT (CD117)

Question 2

ALK-positive non-small cell lung cancer Tx options

Answer 2

Lorlatinib (3rd gen TKI), Brigatinib, Alectinib > Crizotinib

Question 3

HER2-positive overexpressing metastatic breast cancer Tx

Answer 3

Lapatinib + capecitabine after anthracycline and a taxane, and who have progressed on prior trastuzumab therapy

Question 4

non-small cell lung cancer - RET fusion positive - Tx

Answer 4

Selpercatinib

Question 5

previously untreated metastatic nonsquamous NSCLC without EGFR or ALK mutations (KEYNOTE-189) - Tx?

Answer 5

PD-L1>50% = pembro monotherapy. PD-L1 <50% pembro + pemetrexed + platin

Question 6

resectable stage IllA non-small-cell lung cancer (NSCLC).

Answer 6

Neoadjuvant pembrolizumab plus chemotherapy followed by surgery and adjuvant pembrolizumab (KEYNOTE-671)

Question 7

FBN1

Answer 7

Marfan’s

Question 8

C282Y or H63D

Answer 8

Haemochromatosis

Question 9

BMP6

Answer 9

rare - iron overload, hepcidin reduced

Question 10

TP7B

Answer 10

Wilson’s

Question 11

Genes in Long QT1, 2, 3

Answer 11

LQT1 = KCNQ1 (exercise), LQT2 = KCNH2, LQT3 = SCN5A (sleep)