a family in need case study NATIONAL CENTER FOR CASE STUDY TEACHING IN SCIENCE A

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a family in need case study

NATIONAL CENTER FOR CASE STUDY TEACHING IN SCIENCE A Family In Need: Internet-Enhanced Case Study on Cancer Genetics by Janet A. De Souza-Hart School of Arts & Sciences Massachusetts College of Pharmacy &Health; Sciences, Boston, MA Instructions: Using the information that you have learned in class and from your textbook, complete the questions in the case. Internet sites and resources are cited below in the case study for you to use to look up key information. PartI- Genetic Testing You are a second-year medical student in an innovative medical school that allows you to get in-depth clinical experience early in your medical education. You are currently assigned to work with Dr. Aikenhed, a pediatric oncologist. She has done a biopsy on a tumor-like growth in the adrenal gland of her 17-year-old patient, Lee E You record the following notes while Dr. Aikenhed takes a detailed family history from the patient's parents: Lee has a sister, Leah (age 10), and a brother, Luke (age 6). Both are healthy. .Grace is the youngest of four children. Her eldest brother, Greg (age 42), and sister, Greta (age 40), have never had .Greg's two fraternal ewin daughters have no signs or symptoms of cancer. Lee's mother, Grace, was diagnosed with bilateral breast cancer last year at age 35. Lee's father, Brian, and Lees paternal grandparents have no history of cancer. any signs or symptoms of cancer. She had a brother, Geoff, who died of leukemia at age 8. He was the third child of Grace's parents. Grace's father, Roger, died of a soft tissue sarcoma at age 35. Grace's mother, Renee, is still living and in excellent health. Roger's mother died of a brain tumor at age 30. Roger was her only child.

Explanation / Answer

Ans. The mode of inheritance would be the autosomal dominant inheritance pattern. Where the inheritance would occur through the autosomes. These autosomes are not sex chromosomes but can be inherited from the affected father or mother. In case of autosomal dominant inheritance only one mutation in one pair of gene would result in the disease.

Also in case of autosomal dominant inheritance about 50% of the child would be infected. It is evident from the fact that about 2 of Rogers children were diagnosed with cancer. Those were Grace and Geoff.

Hence the mode of inheritance would be Autosomal dominant inheritance.

Ans 2. The five disorders and the clinical symptom associated with it are as follows:

1) Multiple endocrine neoplasia: Tumours of the parathyroid and pituitary gland, pancreas, hypertension, kidney stone, fatigue, nausea and vomiting.

2) Carney complex type I: Changes in skin pigmentation, heart tumours and tumours of the endocrine tissue.

3) Li fraumeni syndrome: Breast, bone and soft tissue cancer. Cancer of blood forming tissues and adrenocortical carcinomas.

4) Von Hippel Lindau syndrome:Tumours and cyst in numerous areas such as kidney, pancreas and male genital tract.

5) Nevoid basal cell carcinoma syndrome: Autosomal dominant disorder characterised by colorectal cancer, gastric adenomas.

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