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Intraoperative cytologic diagnosis: evaluation of 370 consecutive intraoperative cytologies.

Three-hundred and seventy intraoperative cytologies are presented and compared with synchronously performed frozen sections. Cytologic smears and frozen sections were misinterpreted in 1.6% and 0.8% of cases, respectively; the rate of diagnostic errors between the two techniques is comparable given the lack of experience with intraoperative cytology at the beginning of the study. Intraoperative cytology is a suitable technique for a variety of lesions, but it is most helpful in the field of neuro-oncological pathology, certain infectious diseases, lesions of the hematopoietic system, and most epithelial tumors. Cytologic smears afford better morphologic preservation and detail than frozen sections. Techniques are outlined and discussed. Diagnostic criteria of selected cases are presented, and pitfalls are analyzed.

Brain Neoplasms↗

Peptide hormone markers in screening for endocrine tumors in multiple endocrine adenomatosis type I.

In three families with the multiple endocrine adenomatosis type I (MEA I) trait, 51 members were investigated by measurement of circulating peptide hormones as tumor markers. Twenty-five of 51 members (49 percent) were considered to be affected by MEA I disorders. The incidence rose with age (75 percent in generation II). Both sexes were affected equally. Hyperparathyroidism was present in 20 of 25 affected members (80 percent), and pituitary tumors (prolactinomas) were found in four of 25 (16 percent). Endocrine pancreatic tumors were found in nine of 25 affected members (36 percent), but when "probable" tumors (seven) are included the frequency rises to 72 percent. Hyperparathyroidism was found in all except one member with proved lesions in other organs. Among patients with proved and possible endocrine pancreatic tumors, elevated serum levels of gastrin and pancreatic polypeptide were frequently found, 78 percent and 67 percent, respectively, and we suggest that serum gastrin and pancreatic polypeptide levels are the most useful screening markers at present for pancreatic lesions in MEA I.

Adenoma↗

Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation.

Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is an important diagnosis because of the possible involvement of other family members and risk of malignant disease. We report clinical and genetic studies in a previously undocumented Australian family with HPT-JT. The proband and his sister presented with bilateral or recurrent mandibular radiolucencies diagnosed histopathologically as cemento-ossifying fibromas. Mutation screening of the recently identified disease gene HRPT2 was performed by direct sequencing in 3 affected members. This revealed a novel mutation in exon 1 of HRPT2 (nt 20AGGACG --> GGGAG), which is predicted to inactivate the parafibromin protein through protein truncation and premature termination of translation. The terminology used for the jaw lesions in this syndrome warrants review to become more consistent. Cemento-ossifying fibroma is the preferred term to better reflect the pathologies found in most individuals and families,and to emphasize the significance of the jaw lesions in the diagnosis of the syndrome.

Adenoma↗

[Tumor of the maxilla presenting as primary hyperparathyroidism].

Brown tumors are classic bony lesions of hyperparathyroidism. They usually occur in severe forms with osteolytic subperiosteal lesions. Facial bones are a rare localization: 2% of all cases. The aim of this study was to report a case of multiple craniofacial location of brown tumors and to discuss, within a review of the literature, the role of imagery in the diagnosis of this disease.

Adenoma↗

Primary hyperparathyroidism: problems in management.

Most hyperparathyroidism is subclinical, with no complaints of bone pain, constipation, mental confusion, or depression, no skeletal findings on x-ray, and no history of kidney stones. Routine hyperparathyroidectomy for asymptomatic hypercalcemia, with normal bone density and normal calciuria, particularly with moderate elevations of serum calcium, is now generally rejected.

Adenoma↗