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Tuesday, September 14, 2010

Diseases Those Point to GI Cancer Susceptibility

Posted by Prahallad Panda on 2:02 PM Comments

Cancer Is Curaqble
Cancer is Curable

medTitans - Diseases Those Point to GI Cancer Susceptibility

Article first published as Diseases Associated with Gastrointestinal and Extra-Intestinal Cancers on Technorati.


There are certain diseases which are treated as alerts for physicians to go deep in search of gastrointestinal cancers, those may exist or likely to develop in future. These can be a group of diseases or conglomerate of symptoms, called as syndromes in a sufferers who are mostly genetically susceptible.
Those can be;
  • Esophageal cancer is the eighth most common cancer and the sixth most common cause of cancer-related mortality in the world. Histologically, approximately 90% of esophagus cancer cases are squamous cell carcinoma. It is frequently found in smokers and alcoholics; and is associated with ingestion of hot food and less intake of fruits and vegetables.
    A hereditary disease clearly associated with it is tylosis. Tylosis is characterized by a group of symptoms to be termed as a syndrome; most common manifestations being palmar-plantar keratoderma (PPK). Here, there is increased abnormal thickening of skin of palms and soles with formation of callosities in the pressure points. Oral leukoplakia, a thickening of cheek mucosa and esophageal mucosal thickening may accompany PPK.
  • Barrett’s esophagus, often manifests as gastro-esophageal reflux disease (GERD) is a precursor of cancer esophagus.
  • Breast carcinoma suppressor gene (BRCA) and esophageal cancer; it has been seen that mutation in BRCA gene, which is a predisposing factor for cancer breast; also associated with cancer esophagus.
  • Lynch syndrome; otherwise called hereditary non-polyposis colorectal cancer (HNPCC) accounts for 2-7% of all colorectal cancers is associated with cancers of endometrium of uterus, ovary, stomach, hepato-billiary system, pancreas, small bowel, brain and urinary system. It develops due to an autosomal dominant mutation in at least one of the DNA mismatch repair genes. As these mutations are highly penetrant, multiple generations of a family are frequently affected by cancer.
  • Familial atypical multiple mole melanoma syndrome is associated with hereditary pancreatic cancer and syndromes like Peutz-Jeghers syndrome and familial breast cancer syndrome.About 5% of pancreatic cancer in US is hereditary.
  • Peutz-Jogher syndrome (PJS); characterized by polyps in the gastrointestinal tract, mucocutaneous melanin pigmentation and various neoplasms. It is also associated with cancer breast; cervix and endometrium of uterus. The incidence of cancer among the patients suffering with PJS has been estimated to be 15-fold higher than the incidence of cancer in the general population. PJS presents with characteristic flat, pigmented, freckle-like cutaneous lesions mainly on the lower lip, perioral area, buccal mucosa, periorbital area and eyelids.
  • Familial adenomatous polyposis (FAP) is characterized by large number of polyps in the colon and rectum, that accounts for 1% on all colorectal carcinomas. It presents sometime in second decade of life with predominant symptoms like rectal bleeding, anemia and cancer of rectum and/or colon. FAP may present with some extraintestinal manifestations like bone tumors called osteomas, dental abnormalities (unerupted teeth, congenital absence of one or more teeth, supernumerary teeth, dentigerous cysts and odontomas), congenital hypertrophy of the retinal pigment epithelium (CHRPE), desmoid tumors, and extracolonic cancers (thyroid, liver, bile ducts and central nervous system).
  • Familial (GIST) gastrointestinal stromal tumors (GISTs) are most often associated with oncogenic mutations of the KIT gene. GIST though rare is associated with neurofibromatosis; a disease where multiple firm and irregular skin nodules appear in the body.
  • Familial gastric cancer, cancer of stomach, hereditary diffuse gastric cancer and other germline genetic gastric cancer are associated cancer elsewhere in the GI tract; so also, pancreatic cancers and hereditary pancreatitis.
  • Helicobacter pylori (H. Pylori) and diffuse gastritis are associated with cancer of stomach. H. Pylori, a comma shaped bacillus infects stomach, mainly in areas of poor sanitation; and manifests the symptoms of acid peptic disease.
In these cases of hereditary diseases care should be taken to analyze the existence of different combinations of other cancers, so that early diagnosis and treatment is possible. Other diseases having links with GI cancers should be watched carefully for the same reason.


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