A. Boscaino

Patterns of gene amplification in gastrointestinal stromal tumors (GIST).

Gastrointestinal stromal tumors (GIST) are the most common primary mesenchymal tumors of the gastrointestinal tract (GIT). They represent a wide clinico-pathological spectrum of tumors. No single histological or clinical parameter can predict the prognosis while the response to therapy is related to the type of KIT or PDGFRA mutation. Cytogenetic and CGH studies have identified frequent gross chromosomal aberrations but the target genes of these changes are unknown. To determine whether known oncogenes take part in genomic rearrangements and to investigate the potential clinical significance of their amplifications, nine known oncogenes (CMYC, MDM2, GLI1, CDK4, HER2, EGFR1, CCND1, FGF3, EMS) were analyzed by fluorescent in situ hybridization (FISH) on a tissue microarray (TMA) containing 94 primary GIST. Clinical follow-up information was available for 57 of these patients. Amplification was found for CMYC in three of 90 (3.3%), for MDM2 in five of 94 (5.3%), for EGFR1 in five of 94 (5.3%), and for CCND1 in seven of 79 (8.9%) evaluable cases. No amplifications were seen for HER2, GLI1, CDK4, FGF3, and EMS. Amplifications of MDM2 and CCND1 were associated with clinical and histological malignancy. In conclusion, our data show that gene amplification does occur in a subset of GIST. Identification of MDM2/CCND1 amplification may represent another molecular feature that could help in the evaluation of the behavior of GISTs.

Microstructural Disorders of Tunica Albuginea in Patients Affected by Peyronie’s Disease with or without Erection Dysfunction

Peyronies disease, the etiology of which remains unknown, is characterized by a focal or multifocal disorder of penile tunica albuginea. An excessive collagen deposition gives rise to the formation of the plaque, which is fibrotic first and then becomes calcific. Typical symptoms of the disease are painful erection, pathological bending of the erect penis and impotence at the more advanced stages (43% of the cases). There is evidence that the tunica albuginea has a fundamental role in the erection mechanism. We evaluated the tunica albuginea of patients suffering from Peyronies disease, with or without impotence, and found progressive disorders of the microstructure in areas that were not affected by fibrocalcific formations. There was a significant decrease (p < 0.0001) of elastic fiber concentration (55.05 +/- 23.83 per high power field) in patients with Peyronies disease compared to the concentration in the tunica albuginea of a control group (128.50 +/- 11.79 per high power field). Moreover, when the elastic fiber concentration in the tunica albuginea of patients Peyronies disease and normal erection (71.36 +/- 12.00 per high power field) was compared to the concentration in the tunica albuginea of those with Peyronies disease and impotence (33.14 +/- 4.84 per high power field) a significant difference was noted (p < 0.0001).

Fine-needle aspiration biopsies of breast masses. An additional experience with 1153 cases (1985 to 1988) and a meta-analysis

A series of 1153 fine‐needle aspiration biopsies (FNAB) of breast masses obtained during the period 1985 to 1988 in one institution was examined. The following diagnostic accuracy values were found: sensitivity, 93.0%; specificity, 92.4%; predictive positive value, 93.7%; and efficiency, 92.8%. These results were compared with a previously published series for the period 1976 to 1984. The diagnostic accuracy values did not differ significantly between the two series.

Microstructural disorders of tunica albuginea in patients affected by impotence.

The role played by the tunica albuginea in the erection mechanism seems to be very significant in promoting the constriction of sub-albugineal venous reticulum and trans-albugineal effluent veins, as well as providing an inextensible protective structure to the arteriolae and to the intracavernous nerves. The passive function exerted by the tunica albuginea is a result of its structure, which is rich in collagenic fibers, linked by elastic fiber bridges. The presence of structural disorders in the tunica albuginea of 16 patients suffering from psychogenic, arteriogenic and venogenic impotence is evaluated. The results obtained show a significant decrease in elastic fibers in the tunica albuginea of impotent patients compared to a control group of 5 patients with normal erection activity. This structural disorder could result in tunica albuginea alteration and, therefore, in erection insufficiency.

Peripheral ameloblastoma: report of a case with malignant aspect.

Peripheral ameloblastoma is a very rare tumour with histological characteristics similar to those of the centrally located ameloblastoma. It appears in the gum and in the alveolar process of the jaws. We report a case of tumour of the left maxillary region, near the canine area. Histologically it presented itself with follicles and nests of cells with a trabecular architectural pattern. High mitotic index and clear images of perineural infiltration were present. The diagnosis was peripheral ameloblastoma with malignant aspects. At 12-month follow-up no local recurrence was noted.

Verruciform xanthoma of the vulva: case report.

A rare case of verruciform xanthoma of the vulva is reported. Diagnosis was made possible by histopathological examination and immunohistochemical staining. Verruciform xanthomas generally occur in the oral cavity. To the best of our knowledge, this is the third reported case of the tumour located on the genital mucosa. Immunohistochemical study supported the histiocytic origin of the lesion. Clinically, verruciform xanthomas may mimic other verrucous lesions of the vulva, such as seborrhoeic keratosis, verruca simplex, condyloma acuminatum, verrucous carcinoma, or erythropasia of Queyrat, or conditions such as histiocytosis, cutaneous lipidosis, or granular cell myoblastoma. The characteristics that differentiate those conditions from verruciform xanthoma, which can be seen only on histology, are given.

An Unusual Orbital Lesion: Hepatoma Metastatic to the Orbit

The authors describe a case of histologically proven orbital metastasis from a hepatic carcinoma in an 85-year-old patient with rapid onset of proptosis and visual loss. The clinical diagnosis of orbital metastatic lesion was established by standardized echography and CT scan. To the best of our knowledge, this is only the third histologically proven case of hepatoma metastatic to the orbit.

Primary Rhabdoid Tumour of the Skin in a 14-Month-Old Child

We report on a primary cutaneous rhabdoid tumour in a 14-month-old child, to the best of our knowledge, the second case in the literature. The tumour showed a multipolypoid gross appearance and classical histological features. The neoplastic cells were positive for keratin and vimentin and most were positive for proliferating cell nuclear antigen. The ultrastructural examination revealed typical intracytoplasmic aggregates of intermediate filaments. The tumour showed a very aggressive course, and the child died 5 months after the diagnosis of cerebral metastasis.

Multicystic mesothelial proliferation. Immunohistochemical, ultrastructural and DNA analysis of five cases.

We investigated the clinicopathological findings in five cases of multicystic mesothelial proliferation (MMP). All masses consisted of multiloculated cysts attached to pelvic organs and sometimes growing into the upper abdominal cavity. The cystic spaces were lined by flattened or cuboidal cells. The stroma showed fibrosis, oedema and chronic inflammation. Immunohistochemistry revealed strong positive staining for cytokeratin and epithelial membrane antigen, and focal positivity for vimentin and carcinoembryonic antigen. The endothelial markers were negative. Electron microscopy showed abundant surface microvilli and well-developed basal lamina. DNA analysis identified euploid cell populations in all cases. All but one case had a previous history of abdominal surgery. Despite the worrying appearance the clinical outcome was favourable in all cases; there was one recurrence. Clinical and pathological data support the hypothesis that MMP represent a reactive mesothelial proliferation and not a neoplastic process.

Bronchial blue naevus. A previously unreported entity

Since the first description of cutaneous blue naevus in 1906l, similar lesions have been reported in unusual site^^-^. The occurrence of these lesions outside the skin area is considered to be the clinicopathological manifestation of an embryonal displacement during the melanocytic migration from the neural crest to the We describe here the histological, immunohistochemical and ultrastructural features of a bronchial blue naevus. To our knowledge, this is the first report of a naevic lesion in the bronchial apparatus.