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Tag Archives: Syndrome
Sturge Weber Syndrome
Sturge Weber Syndrome
- skin and brain angiomas
- in trigeminal nerve distribution
Posted in Syndrome
Tagged Angioma, Sturge Weber, Sturge-Weber syndrome, Syndrome, Trigeminal nerve distribution
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Juvenile Polyposis Syndrome
Juvenile Polyposis Syndrome
Inheritance: sporadic or autosomal dominant
often mutations in PTEN or smad4/dpc4
Diagnosis criteria:
a) >5 colorectal juvenile polyps
b) juvenile polyps in entire GI tract
c) any polyps in a patient with a family history of Juvenile Polyposis Syndrome
Gross: peduculated polyp
Histology
- eroded surface with reactive and regenerative epithelium
- cystically-dilated glands
- prominent stroma with a mixed inflammatory infiltrate
Genetics: SMAD4, BMDR1A mutation
Associations: adenomas, cancers of the stomach to colon and pancreas
Posted in Syndrome
Tagged BMDR1A, GI syndrome, Juvenile Polyposis, Juvenile Polyposis Syndrome, Pedunculated polyps, SMAD4, Syndrome
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Zollinger Ellison Syndrome
Zollinger Ellison Syndrome
Gastrinoma
Pathophysiology:
- gastrin-secreting endocrine tumor in pancreas (gastrinoma) or in ectopic gastric tissue (duodenum or Meckel’s diverticulum)
- causes hypergastrinemia and an increase in serum gastrin
- 20% associated with MEN-1, 80% sporadic
Gross Appearance and Location:
- fundus and body (where parietal cells are)
- massive rugal folds
Histology:
- increase in parietal cells and hypertrophy of the fundus and body of the stomach
- enterochromaffin-like cell linear hyperplasia in body of stomach
Immunohistochemistry:
- gastrinoma is chromogranin, synaptophysin and gastrin positive
Posted in Stomach
Tagged Endocrine tumor, Gastrin, Gastrinoma, men-1, men1, Syndrome, Zollinger Ellison, Zollinger Ellison Syndrome
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Fragile X Syndrome
Fragile X Syndrome
- second most common cause of MR
- X-linked disorder
What is the nucleotide repeat sequence?
-trinucleotide expansion of FMR gene of “CGG”
What are the clinical features?
- long face, big ears,
What is Sherman’s paradox?
- risk of MR higher in grandson than the brother of the transmitting male. Because the premutation is amplified to a mutation during oogenesis → resulting in all males with MR and 50% of females.
What is anticipation?
-mutation gets worse with each generation.
What is the difference between premutations and mutations?
- premutations: normal transmitting males and carrier females
- mutations (>230 repeats) → results inactivation of FMR1
Posted in Syndrome
Tagged , Anticipation, Fragile X Syndrome, nucleotide repeat sequence, Premutation, Sherman’s paradox, Syndrome, Trinucleotide repeat expansion, X-linked disorder
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Familial Adenomatous Polyposis Syndrome
Familial Adenomatous Polyposis (FAP) Syndrome
Familial Adenomatous Polyposis Syndrome Inheritance pattern
- autosomal dominant inheritance
- APC gene is on chromosome 5q21
- APC gene plays a role in the WNT pathway in the degradation of the beta-catenin
- beta-catenin role is to turn on transcription factors in the nucleus that lead to cell cycle progression
-mutations in the APC leads to absence of b-catenin degradation and signal independent tranlocation into the nucleus where it turns on the cell cycl
Familial Adenomatous Polyposis Syndrome Clinical Presentation
- two types of clinical presentations:
Classic Familial Adenomatous Polyposis
- minimum of 100 colonic polyps
- polyps in ampulla of Vater – this leads to a prophylactic colectomy in siblings and first-degree relatives which are at risk
Attenuated Familial Adenomatous Polyposis
- patients tend to develop fewer polyps (average 30), and most of the polyps are located in the proximal colon
- lifetime risk of cancer development is usually around 50%
Gardner syndrome
- polyps identical to those in classic FAP
- multiple osteomas (particularly of the mandible, skull, and long bones)
- epidermal cysts
- fibromatosis – desmoid tumors
- less frequent are abnormalities of dentition, such as unerupted and supernumerary teeth
- higher frequency of duodenal and thyroid cancer
Turcot syndrome
- combination of adenomatous colonic polyposis and tumors of the CNS
2/3 have have APC gene mutations and develop brain medulloblastomas
- 1/3 have mutations in one of the genes associated with HNPCC and develop brain glioblastomas
Gross Features of Familial Adenomatous Polyposis
-hundreds to thousands of adenomas evenly distributed through colorectum and appendix
- adenomas range from microscopic to 1cm in diameter with larger adenomas found in the rectosigmoid
- rectum occasionally spared, especially in the attenuated FAP
- colorectal carcinomas may be multifocal
Microscopic Features of Familial Adenomatous Polyposis
- histologically identical to sporadic adenomas
- normal intervening mucosa
- adenomas evolve from single adenomatous crypts
Symptoms and Management
- patients may be asymptomatic before puberty
- initial symptoms are rectal bleeding and diarrhea
- carcinomas start about 6 years after first symptoms
- 100% colon cancer without intervention
- treatment is prophylactic total colectomy
- following colectomy, the most common cause of death is periampullary cancer in 20%
Posted in Colon, GI, Syndrome
Tagged , adenoma, apc, apc gene, b-catenin, Cancer, carcinoma, Colon, colorectal, Familial Adenomatous Polyposis, gardner, periampullary cancer, polyps, Syndrome, turcot
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Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Syndrome
Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Syndrome, also known as Lynch syndrome, is a rare colorectal syndrome that can lead to cancer of the colon.
Hereditary Nonpolyposis Colorectal Cancer Syndrome Inheritance pattern
- autosomal dominant
- syndromal patients have only one functional allele and cancer occurs through loss of heterozygosity (LOH)
- mutations occur in mismatch repair genes (MLH1, MSH 2, MSH6, PMS 1, PMS 2)
- mutations lead to microsatellite instability which are mostly repeats in intronic regions
What to look for?
- you can look for the loss of the genes themselves
- you can look at particular microsatellite loci and see how many have instability
- 0/5 – stable
- 1/5 – low frequency instability
- 2 or greater/5 – high frequency of instability – MSI-H
- microsatellite instability is NOT specific to HNPCC, as it is seen in 10-15 % of sporadic colorectal carcinomas. Sporadic tumors arise in older patients who lack a family history. The activity of the mismatch repair genes in sporadic tumors is lost through hypermethylation
Diagnostic criteria is through the Amsterdam II criteria
Clinical presentation
- development of multiple cancers at an early age, including cancer of the colon, endometrium, renal pelvis and ureter, small bowel, ovary, brain, hepatobiliary tract and sebaceous tumors
Muir -Torre Syndrome
- sebaceous tumors along with HNPCC type of internal malignancy
Turcot Syndrome
- tumors of the CNS (usually gliobalstomas) and multiple colorectal tumors
Gross Appearance
- predilection for right colon and cecum all the way to the transverse colon
- usually polypoid in appearnace rather than diffuse
Microscopic Appearance
- sporadic tumors have the same features as tumors associated with HNPCC
- proximally located mucinous type of colorectal adenocarcinomas +/- tumor infiltrating lymphocytes
- proximally located, poorly differentiated medullary or undifferentiated colorectal adenocarcinomas – these are well circumscribed and lacking abundant desmoplastic stroma and may contain tumor infiltrating lymphocytes
- adenomas – many have a villous morphology and high grade dysplasia, with rapid progression to carcinoma
Posted in Colon, GI, Syndrome
Tagged , gross, Hereditary Nonpolyposis Colorectal Cancer Syndrome, hnpcc, loss of heterozygosity, lynch syndrome, medullary adenocarcinoma, microsatellite instability, microscopic, mismatch repair genes, mlh, mucinous adenocarcinoma, muir-torre syndrome, multiple cancers, mutations, right colon, Syndrome, turcot syndrome
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Carcinoid syndrome
Carcinoid syndrome
Symptoms of Carcinoid Syndrome
- skin flushing
- diarrhea
- right sided heart disease due to fibrosis of the tricuspid valve and stenosis of the pulmonary valve
- bronchoconstriction
Detection of Carcinoid Syndrome
Serotonin secretion is confirmed by measuring the 24 hour urine levels of 5-HIAA (5-hydroxyindoleacetic acid), which is a breakdown product of the hormone, serotonin.
Management of Carcinoid Tumors
Low risk Carcinoid
Local excision for small lesions < 2 cm, with no mesoappendix invasion and no lymphovascular invasion.
Uncertain behavior if > 2 cm or lymphovascular invasion, no mesoappendix invasion.
High risk lesions have at least a cecal resection. These high risk tumors are found at the base of the appendix with caecal margin involvement.
Higher risk lesions require hemicolectomy. These include carcinoid lesions above 2 cm or with invasion of mesoappendix.