NUR404—Advanced Human Pathophysiology
Clinical Cases for Concept 2: Cancer
Case 2.A—Henrietta Lacks
The story of Henrietta Lacks teaches us much about ethics and science (The Immortal Life of Henrietta Lacks by Rebecca
Skloot. Crown Publishers, 2010. ISBN: 978-1-4000-5217-2). The basic facts about the story of Henrietta Lacks are well
documented (quoted below from Khan, PMCID: PMC3516052). On February 1, 1951, Ms. Lacks visited Johns Hopkins
because of a painful “knot” in her cervix and bloody vaginal discharge. After a biopsy, she was diagnosed with cervical
cancer. The appearance of the tumor was unlike anything the examining gynecologist, Dr. Howard Jones, had seen. Prior
to the treatment for the carcinoma, cells from the tumor were removed for research purposes without her knowledge or
permission, which was standard procedure at that time. During her second visit eight days later, Dr. George Otto Gey
obtained another sample of her tumor. These cells would eventually become the HeLa cell line. In significant pain and
without improvement, Lacks returned to Johns Hopkins Hospital on August 8 demanding admission and remained there
until her death on October 4 at the age of 31. A subsequent partial autopsy showed that the cancer had metastasized
throughout her body. HeLa cells are still growing today in laboratories all over the world, despite Henrietta’s death
shortly after her diagnosis. HeLa cells grow very rapidly and essentially do not die but continue to be propagated. They
have been instrumental in many important scientific discoveries, including creation of the polio vaccine. It is estimated
that total weight of all the HeLa cells ever grown exceeds 50 million metric tons.
1. Explain the growth properties of cancer cells in general; explain what “immortalized” means with regard to cancer;
and, relate this concept to Henrietta Lacks.
Cancer cells grow and divide at an abnormally rapid rate, are poorly differentiated, and have abnormal membranes,
cytoskeletal proteins, and morphology. ... Evasion of programmed cell death (apoptosis): cancer cells suppress and
inactivate genes and pathways that normally enable cells to die which can lead back to the concept of the Lacks cells
being immortalized
2. Would you expect HeLa cells to be more or less differentiated than their normal counterpart? Explain your response.
they would be less differentiated so they can proliferation more and more without being stopped
3. What does “terminally differentiated” mean and does this apply to cancer? Explain why cancer cells like HeLa cells
can avoid becoming “terminally differentiated” and define the term “terminally differentiated” in your response.
a terminally differentiated (TD) cell is defined as one that has irreversibly lost its ability to proliferate.
HeLa cells were proliferated highly that cell death wasn't a thing for them and they became immortal thus avoiding
potentially becoming terminally differentiated
4. A Pap smear is a procedure to test for cervical cancer in women. How is this test done and what do (potentially)
abnormal cells identified represent in terms of cellular changes (Hint: atrophy, hypertrophy, hyperplasia, metaplasia,
or dysplasia)?
A Pap smear involves collecting cells from your cervix — the lower, narrow end of your uterus that's at the top of your
vagina. Detecting cervical cancer early with a Pap smear gives you a greater chance at a cure. A Pap smear can also
detect changes in your cervical cells that suggest cancer may develop in the future. Detecting these abnormal cells early
with a Pap smear is your first step in halting the possible development of cervical cancer.
i. metaplasia or dysplasia (cancerous cells)
5. Explain why a vaccine for Human Papilloma Virus (HPV, e.g., Gardasil) can protect against cervical cancer and explain
the relationship between viruses and cancer (in general) in your response.
virus can introduce changes and mutations that helps protect against the risk against cervical cancer
, Case 2.B—Retinoblastoma
Rett Blast is a 2-year-old boy whose mother brought him to the pediatrician because she noticed that one pupil of his eye
looked “white” in color. Jason was referred to an ophthalmologist, who performed an eye exam and identified a single
retinal tumor, and magnetic resonance imaging of the head did not show extension of the tumor outside the globe. He
received chemotherapy combined with focal irradiation. DNA analysis showed that he had a germline mutation (C to T
transition) in one allele of his retinoblastoma (RB1) gene. Parents and sibling were tested and there were no other
mutations identified in the RB1 gene among his family members.
Retinoblastoma is a rare cancer of the eyes
TS/ Cell Cycle
● rare eye cancer that is presents in children <5 YOA
● pRB gene product which is the bRAKE to the cell cycle is knocked out in this case
● RB1 gene = TS gene meaning BOTH alleles need to be mutated in order for disease to be expressed
Germline vs Somatic
● Germline = egg or sperm but does NOT mean it is inherited (came from parent) but it CAN be passed on. has the
potential to move forward (in further generations) but it doesn't tell you where it came from
○ inherited forms have an early age of onset and more likely to have bilateral disease and also have an
increased risk of having other cancers
● Somatic= it's anything but egg and sperm mutated (so all other body cells mutated)
This disease has an autosomal dominat inheritiance pattern in reference to the pedigree
1. What type of gene (TS, oncogene, DNA repair) is the retinoblastoma gene, and what is the (general) relationship
between these types of genes and cancer?
Retinoblastoma genes is a TS mutation of BOTH alleles of the pRB gene. In general the pRB is a major regulator of the
cell cycle and regulates growth or cancer from progressing.
pRB is what allows a break between G0 and G1
2. What is the normal function of the pRB protein with regard to cell cycle regulation; how does mutation in the RB1
gene impact the cell cycle; and, how does this change in cell cycle relate to cancer?
One function of pRb is to prevent excessive cell growth by inhibiting cell cycle progression until a cell is ready to divide.
Cells with two altered copies of the RB1 gene produce no functional pRB and are unable to regulate cell division
effectively. As a result, retinal cells lacking functional pRB can divide uncontrollably to form cancerous tumors
3. What is the difference between a germline and a somatic mutation? Which type of mutation is more likely associated
with retinoblastoma that is observed very early in life?
Somatic mutations – occur in a single body cell and cannot be inherited (only tissues derived from mutated cell are
affected) Germline mutations – occur in gametes and can be passed onto offspring (every cell in the entire organism will
be affected)
in this case this is a germline mutation
4. How are germline or somatic mutations related to the risk of whether the patient has unilateral or bilateral
retinoblastoma?
The risk of retinoblastoma is much higher in children with a parent who had the congenital (heritable) form of
retinoblastoma. This form often results in tumors in both eyes (bilateral retinoblastoma).
Clinical Cases for Concept 2: Cancer
Case 2.A—Henrietta Lacks
The story of Henrietta Lacks teaches us much about ethics and science (The Immortal Life of Henrietta Lacks by Rebecca
Skloot. Crown Publishers, 2010. ISBN: 978-1-4000-5217-2). The basic facts about the story of Henrietta Lacks are well
documented (quoted below from Khan, PMCID: PMC3516052). On February 1, 1951, Ms. Lacks visited Johns Hopkins
because of a painful “knot” in her cervix and bloody vaginal discharge. After a biopsy, she was diagnosed with cervical
cancer. The appearance of the tumor was unlike anything the examining gynecologist, Dr. Howard Jones, had seen. Prior
to the treatment for the carcinoma, cells from the tumor were removed for research purposes without her knowledge or
permission, which was standard procedure at that time. During her second visit eight days later, Dr. George Otto Gey
obtained another sample of her tumor. These cells would eventually become the HeLa cell line. In significant pain and
without improvement, Lacks returned to Johns Hopkins Hospital on August 8 demanding admission and remained there
until her death on October 4 at the age of 31. A subsequent partial autopsy showed that the cancer had metastasized
throughout her body. HeLa cells are still growing today in laboratories all over the world, despite Henrietta’s death
shortly after her diagnosis. HeLa cells grow very rapidly and essentially do not die but continue to be propagated. They
have been instrumental in many important scientific discoveries, including creation of the polio vaccine. It is estimated
that total weight of all the HeLa cells ever grown exceeds 50 million metric tons.
1. Explain the growth properties of cancer cells in general; explain what “immortalized” means with regard to cancer;
and, relate this concept to Henrietta Lacks.
Cancer cells grow and divide at an abnormally rapid rate, are poorly differentiated, and have abnormal membranes,
cytoskeletal proteins, and morphology. ... Evasion of programmed cell death (apoptosis): cancer cells suppress and
inactivate genes and pathways that normally enable cells to die which can lead back to the concept of the Lacks cells
being immortalized
2. Would you expect HeLa cells to be more or less differentiated than their normal counterpart? Explain your response.
they would be less differentiated so they can proliferation more and more without being stopped
3. What does “terminally differentiated” mean and does this apply to cancer? Explain why cancer cells like HeLa cells
can avoid becoming “terminally differentiated” and define the term “terminally differentiated” in your response.
a terminally differentiated (TD) cell is defined as one that has irreversibly lost its ability to proliferate.
HeLa cells were proliferated highly that cell death wasn't a thing for them and they became immortal thus avoiding
potentially becoming terminally differentiated
4. A Pap smear is a procedure to test for cervical cancer in women. How is this test done and what do (potentially)
abnormal cells identified represent in terms of cellular changes (Hint: atrophy, hypertrophy, hyperplasia, metaplasia,
or dysplasia)?
A Pap smear involves collecting cells from your cervix — the lower, narrow end of your uterus that's at the top of your
vagina. Detecting cervical cancer early with a Pap smear gives you a greater chance at a cure. A Pap smear can also
detect changes in your cervical cells that suggest cancer may develop in the future. Detecting these abnormal cells early
with a Pap smear is your first step in halting the possible development of cervical cancer.
i. metaplasia or dysplasia (cancerous cells)
5. Explain why a vaccine for Human Papilloma Virus (HPV, e.g., Gardasil) can protect against cervical cancer and explain
the relationship between viruses and cancer (in general) in your response.
virus can introduce changes and mutations that helps protect against the risk against cervical cancer
, Case 2.B—Retinoblastoma
Rett Blast is a 2-year-old boy whose mother brought him to the pediatrician because she noticed that one pupil of his eye
looked “white” in color. Jason was referred to an ophthalmologist, who performed an eye exam and identified a single
retinal tumor, and magnetic resonance imaging of the head did not show extension of the tumor outside the globe. He
received chemotherapy combined with focal irradiation. DNA analysis showed that he had a germline mutation (C to T
transition) in one allele of his retinoblastoma (RB1) gene. Parents and sibling were tested and there were no other
mutations identified in the RB1 gene among his family members.
Retinoblastoma is a rare cancer of the eyes
TS/ Cell Cycle
● rare eye cancer that is presents in children <5 YOA
● pRB gene product which is the bRAKE to the cell cycle is knocked out in this case
● RB1 gene = TS gene meaning BOTH alleles need to be mutated in order for disease to be expressed
Germline vs Somatic
● Germline = egg or sperm but does NOT mean it is inherited (came from parent) but it CAN be passed on. has the
potential to move forward (in further generations) but it doesn't tell you where it came from
○ inherited forms have an early age of onset and more likely to have bilateral disease and also have an
increased risk of having other cancers
● Somatic= it's anything but egg and sperm mutated (so all other body cells mutated)
This disease has an autosomal dominat inheritiance pattern in reference to the pedigree
1. What type of gene (TS, oncogene, DNA repair) is the retinoblastoma gene, and what is the (general) relationship
between these types of genes and cancer?
Retinoblastoma genes is a TS mutation of BOTH alleles of the pRB gene. In general the pRB is a major regulator of the
cell cycle and regulates growth or cancer from progressing.
pRB is what allows a break between G0 and G1
2. What is the normal function of the pRB protein with regard to cell cycle regulation; how does mutation in the RB1
gene impact the cell cycle; and, how does this change in cell cycle relate to cancer?
One function of pRb is to prevent excessive cell growth by inhibiting cell cycle progression until a cell is ready to divide.
Cells with two altered copies of the RB1 gene produce no functional pRB and are unable to regulate cell division
effectively. As a result, retinal cells lacking functional pRB can divide uncontrollably to form cancerous tumors
3. What is the difference between a germline and a somatic mutation? Which type of mutation is more likely associated
with retinoblastoma that is observed very early in life?
Somatic mutations – occur in a single body cell and cannot be inherited (only tissues derived from mutated cell are
affected) Germline mutations – occur in gametes and can be passed onto offspring (every cell in the entire organism will
be affected)
in this case this is a germline mutation
4. How are germline or somatic mutations related to the risk of whether the patient has unilateral or bilateral
retinoblastoma?
The risk of retinoblastoma is much higher in children with a parent who had the congenital (heritable) form of
retinoblastoma. This form often results in tumors in both eyes (bilateral retinoblastoma).
