Endometrial cancer and Lynch syndrome: similarities and genetic determinism
R. Botea, N. Suciu, M. Piron-Dumitrașcu, S.R. Iacoban, D. Creţoiu, I.D. Suciu
Rezumat: Introduction. Lynch syndrome (LS), which was formerly referred
to as hereditary nonpolyposis colorectal cancer (HNPCC),
is a type of inherited disease that is autosomal dominant
in nature. This condition is caused by the presence
of germline pathogenic variants (PVs) in the mismatch
repair (MMR) genes. MMR’s primary function is to maintain genomic stability by repairing mismatches that arise during DNA replication.
The malfunction of MMR can lead to changes in the length
of a microsatellite DNA called microsatellite instability (MSI)
and increase susceptibility to tumors. There are two types of
Lynch syndromes: type I Lynch syndrome and type II Lynch
syndrome, based on the location of the tumors. The most
prevalent extraintestinal sentinel cancer of LS is referred to
as Lynch syndrome-associated endometrial cancer (LS-EC).
Women with Lynch syndrome have a likelihood of 40-60%
of developing endometrial cancer as their initial malignancy.
LS-EC is a sentinel cancer of Lynch syndrome, indicating
the possibility of the development of other LS-associated
cancers in the future. Therefore, early screening and preventative
strategies are necessary to reduce the morbidity
and mortality caused by cancer. This article presents an overview of the research progress on LS-EC, encompassing
genetic alterations, clinicopathological features, screening, diagnosis, surveillance, prevention and therapy. Materials and method. A review of the literature was performed regarding the current status
of knowledge of Lynch syndrome-associated endometrial
cancer, along with methods for diagnosis, screening and
prevention of cancers. Results. For women who have Lynch
syndrome, the estimated lifetime cumulative risk of developing
endometrial cancer is between 40% and 60%. There is
no existing evidence that indicates an advantage in survival
for individuals who are at equal or higher risk of developing
colorectal cancer, compared to those who have other forms
of cancer. When comparing these cases, there is a connection
between Lynch syndrome and an increased risk of endometrial
cancer. The provision of sporadic cases can be achieved through
a combination of medical history that pertains to both the
family and the individual, as well as tumor testing. The current
state of gynecologic cancer research has provided an effective
foundation for the diagnosis of Lynch syndrome in women who
have been diagnosed with endometrial cancer. The guidelines
for screening women with Lynch syndrome entail a yearly
procedure of endometrial sampling and transvaginal testing. It
is recommended to begin ultrasonography screenings between
the ages of 30 and 35 years old. Conclusions. The clinical
implications of diagnosing Lynch syndrome in patients with
endometrial cancer are significant. Decreasing the probability
of certain outcomes can be achieved through screening
and prevention practices for both individuals and their families. Cuvinte cheie: Lynch syndrome, endometrial cancer, prevention, screening.