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(Created page with "{{WBRQuestion |QuestionAuthor={{Ochuko}} |ExamType=USMLE Step 1 |MainCategory=Genetics, Pathology |SubCategory=Oncology |MainCategory=Genetics, Pathology |SubCategory=Oncology...")
 
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{{WBRQuestion
{{WBRQuestion
|QuestionAuthor={{Ochuko}}
|QuestionAuthor={{Ochuko}} {{Alison}}
|ExamType=USMLE Step 1
|ExamType=USMLE Step 1
|MainCategory=Genetics, Pathology
|MainCategory=Genetics, Pathology
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|MainCategory=Genetics, Pathology
|MainCategory=Genetics, Pathology
|SubCategory=Oncology
|SubCategory=Oncology
|Prompt=An 18- year old complains of bone pains and swelling over the right leg just above the knee. He has been losing weight progressively over the past 2 months. Past medical history is significant of having been treated for a cancer of the eye at the age of 3 years. Which of these genes is most likely responsible for these conditions in this patient?
|Prompt=An 18-year-old male presents to the physician's office complaining of bone pains and swelling over the right leg just above the knee. He has progressively lost weight over the past 2 months. Medical history indicates that he was treated for eye cancer at the age of 3 years. Which of the following genes is most likely responsible for the conditions presented in this patient?
|Explanation=This is a case of Osteosarcoma with a past history of Retinoblastoma associated with the RB suppressor gene on chromosome 13. Osteosarcoma commonly affects men 10-20 years of age, found in the metaphysis of long bones often around the distal femur, proximal tibial region (knee). It is a connective tissue tumor arising from osteocytes.
|Explanation=The patient in this scenario has [[osteosarcoma]], with a past history of Retinoblastoma, associated with the RB suppressor gene on chromosome 13. [[Osteosarcoma]] commonly affects males 10-20 years of age, and occurs in the metaphysis of distal femur, proximal tibia, and humerus. [[Osteosarcoma]] is a connective tissue tumor arising from osteocytes.
Inactivation of the RB suppressor gene may be inherited as an autosomal dominant trait or it may be sporadic. In the inherited type, one of the alleles on chromosome 13 is inactivated in utero. After birth, only one additional mutation can occur on the remaining allele to cause cancer (called the one-hit theory) and then a patient is at risk of developing a Retinoblastoma, the most common malignancy of the eye in children. There is an additional increased risk for developing osteosarcoma between the age group of 10-25 years.
Inactivation of the RB suppressor gene may be inherited as an autosomal dominant trait or it may occur sporadically. When [[osteosarcoma]] is inherited, one of the alleles on chromosome 13 is inactivated in utero. After birth, only one additional mutation can occur on the remaining allele that results in cancer (called the one-hit theory), increasing the patient's risk of developing a [[retinoblastoma]], the most common malignancy of the eye in children. Additionally, there is an increased risk of developing osteosarcoma between the ages of 10-25 years.


Educational Objective
|EducationalObjectives= The RB suppressor gene on chromosome 13 is associated with [[osteosarcoma]] and [[retinoblastoma]].


The RB suppressor gene on chromosome 13 is associated with the bone and eye conditions Osteosarcoma and Retinoblastoma.
|References= First Aid for the USMLE step 1 2011 edition Pgs 227-8
 
Reference: First Aid for the USMLE step 1 2011 edition Pgs 227-8




|AnswerA=TP53 gene
|AnswerA=TP53 gene
|AnswerAExp=Incorrect. The TP53 suppressor gene is associated with DNA repair in the G1 to S phase of the cell cycle and associated with Li Fraumeni syndrome
|AnswerAExp= The TP53 suppressor gene is associated with DNA repair in the G1 to S phase of the cell cycle and [[Li-Fraumeni syndrome]].
|AnswerB=RB gene
|AnswerB=RB gene
|AnswerBExp= See explanation
 
 
|AnswerBExp=Correct. See explanation
|AnswerC=Myc gene
|AnswerC=Myc gene
|AnswerCExp=Incorrect. The Myc gene is a proto-oncogene that is of 2 types, L Myc associated with lung cancer and N Myc associated with neuroblastoma. These are involved with nuclear transcription
|AnswerCExp= The Myc gene is a proto-oncogene with two variations: L Myc, associated with lung cancer, and N Myc, associated with [[neuroblastoma]]. These Myc genes are involved in nuclear transcription.
|AnswerD=Abl gene
|AnswerD=Abl gene
|AnswerDExp=Incorrect. The Abl gene is associated with chronic myeloid leukemia (CML)
|AnswerDExp= The Abl gene is associated with [[chronic myeloid leukemia]] (CML).
|AnswerE=Ret gene
|AnswerE=Ret gene
|AnswerEExp=Incorrect. The Ret gene is associated with multiple endocrine neoplasia (MEN) types II and III
|AnswerEExp= The Ret gene is associated with [[multiple endocrine neoplasia]] (MEN) types II and III
|RightAnswer=B
|RightAnswer=B
|Approved=Yes
|Approved=Yes
}}
}}

Revision as of 18:55, 8 July 2014

 
Author [[PageAuthor::Ogheneochuko Ajari, MB.BS, MS [1] (Reviewed by Alison Leibowitz)]]
Exam Type ExamType::USMLE Step 1
Main Category MainCategory::Genetics, MainCategory::Pathology
Sub Category SubCategory::Oncology
Prompt [[Prompt::An 18-year-old male presents to the physician's office complaining of bone pains and swelling over the right leg just above the knee. He has progressively lost weight over the past 2 months. Medical history indicates that he was treated for eye cancer at the age of 3 years. Which of the following genes is most likely responsible for the conditions presented in this patient?]]
Answer A AnswerA::TP53 gene
Answer A Explanation [[AnswerAExp::The TP53 suppressor gene is associated with DNA repair in the G1 to S phase of the cell cycle and Li-Fraumeni syndrome.]]
Answer B AnswerB::RB gene
Answer B Explanation AnswerBExp::See explanation
Answer C AnswerC::Myc gene
Answer C Explanation [[AnswerCExp::The Myc gene is a proto-oncogene with two variations: L Myc, associated with lung cancer, and N Myc, associated with neuroblastoma. These Myc genes are involved in nuclear transcription.]]
Answer D AnswerD::Abl gene
Answer D Explanation [[AnswerDExp::The Abl gene is associated with chronic myeloid leukemia (CML).]]
Answer E AnswerE::Ret gene
Answer E Explanation [[AnswerEExp::The Ret gene is associated with multiple endocrine neoplasia (MEN) types II and III]]
Right Answer RightAnswer::B
Explanation [[Explanation::The patient in this scenario has osteosarcoma, with a past history of Retinoblastoma, associated with the RB suppressor gene on chromosome 13. Osteosarcoma commonly affects males 10-20 years of age, and occurs in the metaphysis of distal femur, proximal tibia, and humerus. Osteosarcoma is a connective tissue tumor arising from osteocytes.

Inactivation of the RB suppressor gene may be inherited as an autosomal dominant trait or it may occur sporadically. When osteosarcoma is inherited, one of the alleles on chromosome 13 is inactivated in utero. After birth, only one additional mutation can occur on the remaining allele that results in cancer (called the one-hit theory), increasing the patient's risk of developing a retinoblastoma, the most common malignancy of the eye in children. Additionally, there is an increased risk of developing osteosarcoma between the ages of 10-25 years.
Educational Objective: The RB suppressor gene on chromosome 13 is associated with osteosarcoma and retinoblastoma.
References: First Aid for the USMLE step 1 2011 edition Pgs 227-8]]

Approved Approved::Yes
Keyword
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