Activating missense mutations in the Arg 201 codon of the gene encoding the alpha subunit of Gs, the G protein that stimulates cAMP formation, have been recognized as the cause of many endocrine diseases, McCune-Albright syndrome and isolated fibrous dysplasia of bone. On the other hand, intramuscular myxomas with fibrous dysplasia, so-called Mazabraud's syndrome, have been sporadically reported, but it has not been confirmed whether intramuscular myxoma, with or without fibrous dysplasia, is associated with the Gs(alpha) mutations. We investigated the presence of the Gs(alpha) mutations in intramuscular myxomas with or without fibrous dysplasia by a PCR-SSCP assay, using formalin-fixed, paraffin-embedded tissues. In five of the six intramuscular myxomas (three with and two without fibrous dysplasia), point mutations were detected as aberrant bands by SSCP, which were confirmed by a subsequent sequence analysis (three Arg to His and two Arg to Cys). This result suggests that the Gs(alpha) mutations are related to tumorigenesis in intramuscular myxoma and that intramuscular myxoma is one of the diseases induced by abnormal Gs(alpha) protein.

No abstract

Anorectal function was evaluated in eight patients who had low anterior resection of the rectum with a low anastomotic line, using an EEA stapler, with determination of function based on periodic manometric studies and clinical symptoms. Immediately following surgery all patients suffered from frequent bowel actions and soiling. These symptoms improved with time and most patients could enjoy almost normal daily life by the sixth postoperative month. One month after surgery, anal canal resting pressure and maximum squeeze pressure were significantly reduced and rectoanal inhibitory reflex was absent; neither showed a distinct tendency to improve thereafter. Rectal sensation and reservoir capacity, which also were seriously impaired, recovered satisfactorily by the time of the six-month examination. This suggests that an improvement of clinical symptoms following this operation is dependent upon the recovery of reservoir capacity and sensation of the neorectum, and that this operative procedure is a functionally acceptable option for low rectal cancer.

Radiation reduces the capacity of the rectal reservoir, even in asymptomatic patients. These changes develop during radiotherapy and progress over time.

We treated a patient with breast cancer associated with McCune-Albright syndrome. A 40-year-old woman with a history of precocious puberty visited our hospital complaining of a mass in the upper lateral quadrant of the right breast. Although bone scintigraphy revealed multiple high uptake of 99mTc, plain X-ray demonstrated ground-glass appearance, suggesting fibrous dysplasia rather than bone metastases. Serum levels of tumor markers and alkaline phosphatase were within the normal range. Breast cancer associated with McCune-Albright syndrome was diagnosed, and she subsequently underwent breast conserving surgery, excision of abdominal wall myxoma and bone biopsy of the left clavicula. The bone lesion was histologically confirmed as fibrous dysplasia. Although McCune-Albright syndrome isa rare clinical entity, it should be considered as a possible differential diagnosis of bone metastasis in patients with breast cancer. As recent molecular studies have suggested genetic mutations in McCune-Albright syndrome, this syndromemay possibly predispose patients to breast cancer.