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J Med Oncl Ther 2017 | Volume 2 Issue 4
Oncology and Biomarkers Summit
November 27-28, 2017 | Atlanta, USA
Annual Congress on
E
ndometrial cancer (EC) is the most common cancer of the
female reproductive tract. In the current study, we were
presented with a case of premenopausal woman suffering
from EC and having a cancer family history from both
paternal and maternal sides, an observation that suggests
the presence of germline mutations. The main aim was to
accuratelyclassifyour caseof EC intoasubtype, then, toreport
the associated genetic alterations and protein bio-markers.
Furthermore, we aimed to develop individualized treatment
strategies designed for maximum effectiveness. Multiple
profiling technologies, including immunohistochemistry
(IHC), next-generation sequencing (NGS) and chromogenic
in situ hybridization (CISH) were used. Forty-four genes
including proto-onco and tumor suppressor genes were
sequenced to identify causal mutations, in total, 8 mutations
in 5 genes were reported (phosphatase and tensin homolog,
phosphatidylinositol-4, 5-bisphosphate 3-kinase, catalytic
subunit alpha, etc.). Chromogenic in situ hybridization did
not show any gene duplications or deletions. In addition,
immuno-histochemistry analysis revealed altered levels
of programmed death (PD-1) protein biomarker. Since the
tumor was positive for PD-1, pembrolizumab (monoclonal)
treatment followed Everolimus. Interestingly, the affected
individual responded positively after 5 cycles of treatment
(over 24 weeks) and tumor size decreased in size from
7 cm x 4.4 cm x 10.5 cm to 6.5 cm x 3 cm x 7.5 cm. Our
results have deciphered genetic and protein biomarkers
that might be implicated in the aetiology of endometrial
cancer. Furthermore, it has established the guideline for a
personalized treatment targeting the altered gene products.
e:
said.elshamieh@bau.edu.lbNext generation sequencing and immuno-histochemistry profiling identify numerous biomarkers for
personalized therapy of endometrioid endometrial carcinoma
Said El Shamieh
Beirut Arab University, Lebanon