Q1. Lynch Syndrome all are true except?
a) It is due to mutation in MMR gene
b) Associated with APC gene
c) It has Autosomal Dominant Inheritence
d) Adenomas in patients with Lynch syndrome display high grade dysplasia than
adenoma in patients with sporadic colorectal cancer
Answers
1)b
Hereditary Non Polyposis Colorectal cancer (HNPCC) is autosomal dominanat. It predisposes to Colorectal Cancer (CRC) at an early age.
It is predominantly on right side, has increased incidence of synchronous and metachronous disease. Polyps in HNPCC have high grade dysplasia
HNPCC is of two types Lynch I --- Colorectal cancer only, Lynch II - CRC + Extracolonic like endometrial, breast, urological etc
In HNPCC THERE is germ line mutation of mismatch repair gene (MMR). There are six MMR genes in humans. four are related to HNPCC.onchromosomes 2,3 , 7
APC is associated with FAP
REf. Schakelford 170
2 comments:
Q 2. Which is true regarding Anorectal malformations
a)Incontinence high with low anomaly
b) Low and high type determined by Ext anal sphincter
c) Urinary fistula associated with low anomaly
d) Colostomy is done in neonates
Answer d
low and high are according to the pelvic floor or pubococcygeal line also in the invertogram if the distance between the metal indicator and blind end of rectum is more than 2.5 cm it’s high
urinary fistula seen in high variety and urine c/s should be obtained, the presence of proteus or pyocyaneus indicate that fistula is present
colostomy is done in neonates and definite surgery deffered till 6mth-12mth.
Bailey 23rd 1120
Its looking good Elle.
Post a Comment