Clinical Cancer Case Study 1
Nancy is a53-year-oldfemale. Nancy spends every day at her local YMCA teaching a Zumbaclass and is very active in her community. For the last month, shehas been bothered by persistent pelvic pain and intermittentvaginal bleeding even though she started menopause last February.She mentioned this to her daughter during a lunch date and becauseof her daughters urging, Nancy has made an appointment to see herprimary care physician.
The doctorperforms a pelvic exam and orders a CBC with CA 125 screening, apelvic ultrasound and a biopsy.
Her CBC wasnormal but her CA 125 levels were 75 kU/L.
A pelvic masswas identified by pelvic ultrasound and the biopsy indicated thepresence of adenocarcinoma cells within the endometrium.
Due to theseresults, a CT scan and a radical hysterectomy which will remove theuterus, tissue on the sides of the uterus, the cervix and the topregion of the vagina, was scheduled for Nancy.
The surgeonsent the tumor to be genetically profiled. The following genemutations were found in the tumor.
PTEN
TP53
ZFHX3
FGFR2
SOX17
ANK3
CTNNB1
PIK3R1
CCND1
You are thegenetic counselor who just received the genetic profile of Nancy’stumor. It is your job to completely understand how the cells inthis tumor have changed and how this affects their function andpotential to metastasize throughout the body.
Answer thefollowing questions to complete the report which will help Nancyunderstand her specific tumor type and which treatments will workbest for her.
1. What typeof cancer do you conclude that Nancy has? What signs, symptoms andresults led to this conclusion?
2. With theonline genomic tools we have been using in class, determine thefollowing about the tumor’s genomic profile. For each mutated genedescribe in complete sentences:
A. Full nameof gene
B. Cellularlocalization of genomic product (nuclear, cytoplasmic,mitochondrial etc.)
C. Detaileddescription of function of genomic product within a normal cell(ex. If part of a pathway, describe the pathway components andwhere this gene product fits in the pathway and its role in thepathway)
D.Detaileddescription of what type of mutations have been found for each genewithin this tumor and possible ways this may affect or changecellular function. Use the resource Cosmic Genomes Catalogueof SomaticMutations from a Human Cancer Genome
E. Role thisgene plays in tumor phenotype and metastatic potential.
F. Frequencythis gene is mutated in this type of cancer.
3. From theinformation you have compiled about the genomic profile of thetumor, write a summary for the patient about the likelihood of thistumor to become fully metastatic and spread to other parts of thebody.
Question:
I'm having ahard time with the second part of this Assignment. I've tried usingNCBI blast for it but i'm not sure if i'm supposed to do it thatway? If so why am i getting a pop-up that \"No significantsimilarity was found?\" Also for Question 3,what exactly should i becomparing?
