SELECTED CASE EXAMPLES
BRAF ERBB2
Skin biopsy of a mass in the breast of a 56-year-old woman that despite
anti-HER2 targeted therapy progressed to Stage IV disease. The primary
tumor was ER-, PR-, and HER2 3+ on IHC staining. Comprehensive
genomic profiling revealed
BRAF
and
ERBB2
amplification as well as a
base substitution in the gene
RUNX1.
BRAF
alterations have
been reported to be a rare cause of resistance to anti-
HER
targeted therapies in HER2+ BC.
A
B
C
D
Scans illustrating a partial response (RECIST) to
treatment
with
trametinib
(1.5-2 mg per day).
The patient experienced a partial response for 11
months before progression. Patient was 58-year-old
woman with ER-/PR-/HER2- metastatic Stage IV
ductal carcinoma. CGP of liver metastases revealed
BRAF
V600E and
AKT1
E17K,
High power photomicrograph of a pleural biopsy showing a metastatic high grade
infiltrating ductal adenocarcinoma of the breast. The tumor was ER-/PR-; clinical HER2
status not provided. The patient is a 57-year-old woman. CGP revealed
BRAF
G596R,
TP53
E62K, and inactivating alterations in
ARID2, KEAP1,
and
NOTCH3.
The
TMB
for
this sample 8.1 mut/Mb. Treatment with 5 cycles of carboplatin and paclitaxel resulted
in progressive disease. Patient is currently receiving 3 mg/kg of
nivolumab
and is
experiencing ongoing stable disease with PFS of 7.5 months.
Albanell et al. ESMO 2016
