PATHOLOGY ASSISTANT ASCP EXAM ||VERIFIED
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A variant of HNPCC that is characterized by a combination
of colorectal adenomatous polyps and brain tumors
(typically glioblastomas). It is genetically distinct from
HNPCC in that it has an autosomal recessive pattern of
inheritance and is caused by a germline mutation in the
mismatch repair genes - Answer-Turcot syndrome
characterized by the presence of multiple juvenile
(hamartomatous) polyps within the bowel. It is associated
with an increased risk in developing adenocarcinoma of
the large bowel, pancreas, stomach, or duodenum -
Answer-Juvenile polyposis
characterized by the development of adenomatous polyps
with a marked degree of atypia. This syndrome is caused
by a germline mutation in the LKB1 gene - Answer-Peutz-
Jeghers syndrome
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characterized by hamartomatous colorectal polyps,
mucocutaneous stigmata, and an increased occurrence of
malignancy in multiple organs such as: uterine, renal,
thyroid, and breast. It is an autosomal dominant syndrome
caused by a germline mutation in the PTEN gene. -
Answer-Cowden syndrome (Multiple Hamartoma
syndrome)
defined as patients having any one of the three following
features:
Five or more serrated polyps proximal to the sigmoid
colon; with at least two measuring greater than 10 mm in
size
A first degree relative with SPS, who has at least one
serrated polyp proximal to the sigmoid colon
More than 20 serrated polyps throughout the colon -
Answer-Serrated Polyposis syndrome
Colon cancers originating in the right colon tend to present
with ________________________________ - Answer-
Bleeding and anemia
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Colon cancers originating in the left colon tend to present
with - Answer-Constipation, change in bowel habits,
narrow/flattened stool
In colorectal carcinomas, the most important characteristic
that correlates with malignancy is ___________________
- Answer-Size
What are the 4 types of colon polyps? - Answer-
Hyperplastic
Peutz-Jeghers (hamartomatous)
Adenomatous
Inflammatory
an autosomal dominant disorder caused by mutations in
the APC gene. It is characterized by the presence of
hundreds (if not thousands) of polyps throughout the
bowel - Answer-Familial Adenomatous Polyposis (FAP)
The most common syndromic form of colon cancer. It is
caused by a mutation in one or more of the genes (e.g.,
MSH2, MSH6, MLH1, PMS2) responsible for the repair of
DNA mismatches. - Answer-Hereditary Non Polyposis
Colorectal Cancer (Lynch Syndrome)
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an autosomal dominant variant of familial adenomatous
polyposis (FAP) that is characterized by multiple large
bowel adenomas, osteomas of the skull and mandible,
keratinous cysts, and soft tissue neoplasms - Answer-
Gardner syndrome
The occasional confusion between cancer and
diverticulosis is caused by what histomorphologic
changes? - Answer-Inflammation leading to marked
fibrotic thickening in and about the colon wall, or stricture
formation
A special stain used on frozen sections to aid in the
diagnosis of Hirschprung disease - Answer-
Acetylcholinesterase stain
The most common primary malignant soft tissue tumor to
develop within the peritoneum and retroperitoneum -
Answer-Desmoplastic round cell tumor
The malignant counterpart to a benign mucocele of the
appendix - Answer-Mucinous cystoadenocarcinoma