Sebaceous have focused on sebaceous neoplasms which are presented

Sebaceous neoplasms are benign or malignant cell growth arising
from sebaceous glands. However, in this project, we have focused on sebaceous
neoplasms which are presented before, concurrently or even after the diagnosis
of a primary internal malignancy. This condition is known as Muir-Torre
Syndrome (MTS). Associated visceral malignancies are mostly colorectal cancer
which was our focus as well; but stomach cancer, endometrial cancer for example
are presented in patients as well. MTS is said to be a ‘phenotypic variation’
of HNPCC, mainly due to the similar molecular pathway involving mismatch repair
(MMR) genes. We discussed the function of MMR genes in ensuring the integrity
of DNA. MMR deficiency associated mutations at microsatellite sequences
especially, results in a condition called Microsatellite Instability (MSI). MTS
is an autosomal dominant inherited germline mutation, however, for there to be
a loss-of-function of the MMR gene, the normal allele must be inactivated as
well via different mechanisms, through the “second-hit hypothesis” as discussed
in the report. When an individual is diagnosed with a sebaceous neoplasm with a
biopsy, investigations such as Immunohistochemistry (IHC) and MSI testing is
done to confirm the involvement of MMR genes. As for the treatment of MTS, sebaceous
neoplasms can be excised; we learnt about the possibility of antibiotics for
gene therapy; and the need for constant screening for internal malignancies
which could develop. However, no specific gene therapy targeting MTS has been
in place as of yet, which would require more research to be done on the exact
molecular pathway of how MMR genes are modified in an individual with MTS.

 

Year 2 SSC was different from Year 1 SSC as we
had to do a report. In addition, the focus of the research was on the molecular
mechanism of the disease unlike last year. For the report, we split up into
groups to explore different sections: molecular mechanism, investigations, and management.
Our team equally divided the workload, such that those who were keener on
presenting would do less of the report and more of the presentation. Everyone did
their parts on time, and by the end of the second week, we were moving on with
our second draft as well as getting started on the presentation. We met up at
least twice a week, which I thought was useful as we could keep track on
everyone’s progress and be updated on what we have managed to find out so far. We
used ‘Google Docs’ to upload our findings, which made our work more efficient as
it prevented us from having any overlaps. However, some setbacks that we faced
were the citing of references. For some parts of the report, websites were used
instead of a journal or article, which made editing hard as proper papers had
to be found. I was part of the report team, as I am not the best when it comes
to public speaking. I focused on the molecular aspect of the project, helped
out with the presentation for the molecular part, and the word count.  Overall, I enjoyed working with my
enthusiastic and co-operative group mates.

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