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Peutz-Jeghers syndrome: its natural course and management.

Two hundred and twenty-two patients with Peutz-Jeghers syndrome were ascertained in Japan between 1961 and 1974 through two nationwide surveys, medical literature, and personal examinations. Genetic analysis was made of this group as well as 102 follow-up cases. The average age at diagnosis was 23 in males and 26 in females, with male to female ratio of 1:1.13. Presenting complaints of 170 patients included obstruction (42.8 per cent of patients), abdominal pain (23.4 per cent), rectal bleeding (13.5 per cent), extrusion of polyp (7.2 percent). Diagnosis of 52 patients was based on melanin pigmentation. Intussusception occurred in 46.9 per cent of the patients, most often in the small intestine. Polyps occurred in the stomach in 108 patients (48.6 per cent), small intestine, 142 patients (64 per cent), colon, 118 patients (53.2 per cent) and rectum, 71 patients (32 per cent). Among the 222 patients, cancer was histologically verified in 28. Fifteen early cancers occurred (3 gastric, 8 small intestine, 4 colon), and 11 advanced cancers (3 gastric, 1 small intestine, 6 colon, and 1 both colon and small intestine). Mortality was lower than in patients with familial polyposis coli but higher than in the general population. Conservative surgical management, planned medical follow-up, and the need for a national registration system are stressed.

Adolescent

The epidemiology of colorectal polyps: prevalence in New Orleans and international comparisons.

Based on a study of the prevalence of intestinal polyps in New Orleans and on international comparisons, the following conclusions are reached. 1) There is a close parallelism in the epidemiology of colon cancer and adenomatous polyps. Both conditions are statistically associated with respect to geography, anatomic localization, socioeconomic class, migration experience and time trends. 2) The strength of the association favors the notion of a direct, positive correlation between multiplicity, size and atypia of polyps, and cancer risk, equivalent to "dose-effect". 3) The epidemiologic findings are coherent with other biologic facts derived from clinical, morphological and experimental studies. 4) Adenomatous polyps are a good epidemiologic indicator of colon cancer risk and their presence should be helpful in advancing from studies of the epidemiology of colon cancer to the epidemiology of precursor lesions.

Adult

Epithelial misplacement in Peutz-Jeghers polyps. A diagnostic pitfall.

Early difficulties with the interpretation of the histopathology caused overdiagnosis of cancer in the Peutz-Jeghers syndrome; and there is still controversy about the magnitude of risk of gastrointestinal carcinoma. Most workers now believe that there is a small but definite increase in the incidence of gastrointestinal carcinoma in Peutz-Jeghers polyps and most of these cancers occur in the upper gastrointestinal tract. In a review of 491 Peutz-Jeghers polyps in the records of St. Mark's Hospital Pathology department, misplacement of epithelium was found in approximately 10% of small intestinal polyps and closely mimicked adenocarcinoma. This "pseudoinvasion" was not observed in polyps of the stomach or colon. The epithelial misplacement may involve all layers of the bowel wall; and the most helpful histological discriminators include a lack of cytological atypia, the presence of the normal epithelial cell subtypes and a brush border, hemosiderin deposition, and intramural mucinous cysts. Epithelial misplacement may account for the overdiagnosis of carcinoma arising in Peutz-Jeghers polyps as reported in the literature.

Adenoma

Epithelioid leiomyosarcoma originating in a hamartomatous polyp from a patient with Peutz-Jeghers syndrome.

A case of Peutz-Jeghers syndrome with long history and multiple resections is presented. Despite the large number of intestinal polyps in these patients, malignant transformations are rare. In this case, an epithelioid leiomyosarcoma developed within a single polyp. At the time of resection this tumor had already metastasized to the liver. The histology and ultrastructure of this tumor is presented. Reviews of the clinical syndrome and leiomyosarcoma are given, with discussion of the possible interaction of these two processes as presented in this patient.

Adult

[Multiple odontomas in Gardner's syndrome].

A case of Gardners syndrome is described. This illness, inherited by autosomal dominance clinically shows multiple soft tumours, osteotomatosis, occasionally also odeontomata and polyposis intestinalis. The almost invariably occuring malignant degeneration of single intestinal polyps has led to the inclusion of Gardner's syndrome into the group of precancerous conditions.

Colonic Diseases

Histamine release from human colonic mucosa in response to anti-IgE.

Testing of tissue particles for mediator release may be very useful for the diagnosis of localized immunological abnormalities or allergies. The aim of this study was to set up a general procedure to test the reaction of large bowel mucosa to stimuli via the IgE-mediated pathway. Therefore, tissue particles from normal subjects and from patients suffering from different diseases (Crohn's disease, ulcerative colitis, intestinal polyps) obtained at routine coloscopy were exposed to either Hanks or anti-IgE solution to determine the spontaneous or the anti-IgE-induced histamine release, expressed as the percentage of the total histamine content of the biopsy. Histamine was measured using the single isotope radioenzymatic assay. In general, whereas anti-IgE interestingly reduced the histamine release compared to the spontaneous in most of the patients within the polyps group, there was a stimulating effect of anti-IgE throughout all other groups. Thus, the study confirms the possibility of performing functional tests using biopsy particles from the colon.

Antibodies, Anti-Idiotypic

Ruvalcaba-Myhre-Smith syndrome.

In 1980 a syndrome was first described in two adult males, consisting of macrocephaly, pigmented macules on the glans and shaft of the penis, and hamartomatous intestinal polyps. Since then, 10 additional cases have been identified. Herein, we present two new cases and review the cutaneous manifestations as well as additional features in patients with the Ruvalcaba-Myhre-Smith syndrome.

Child, Preschool

Multiple sebaceous tumors and carcinomas of the colon. Torre syndrome.

The association of multiple tumors of the sebaceous glands with primary visceral carcinomas was described for the first time by Torre in 1967. Another 26 cases with similar features have been subsequently reported in the literature. In 12 of these patients isolated or multiple keratoacanthomas and in 8 intestinal polyps were also found. The authors add the report of a personal case. The patient is a 54-year-old man who, during a period of 8 years, has shown multiple sebaceous tumors, 1 keratoacanthoma, and 3 primary adenocarcinomas of the colon. The outline and nosologic position of this pathologic conditions are discussed.

Adenocarcinoma

[Changes in lactate dehydrogenase isoforms in the process of oncogenesis].

Isoenzymes of lactate dehydrogenase were studied by disc-electrophoresis in polyacrylamide gel, and in the clinic--in 1% agar gel. Oncovirus A12 invasion of the culture of rat embryo fibroblasts (REF) was found to result in the increased percentage of the cathode fractions activity (LDG-4 and LD-5) and in the disappearance of LDG-1 yet during the first day of the experiment prior to hypoxia and enhanced proliferation, i. e. it is most likely to be primary. In the homogenates of cancerous tumor and large intestine polyps of man also a reliable increase of the cathode and a decrease or disappearance of the anode fractions accur. A correlation of the experimental and clinical data allowed a suggestion to be made that LDG isoenzymes changes are genetically conditioned and play an important role in the process of oncogenesis, providing conditions for the increased intensity of glycolysis and proliferation.

Adenoviruses, Human