Parotid gland involvement in Heerfordt syndrome: a case report.

Sarcoidosis is a multisystemic granulomatous disease characterized by the presence of noncaseating granulomas, the exact etiology of which is yet to be determined. Most of patients show granulomas located in the lungs or in the related lymph nodes. However, lesions can affect any organ. Noncaseating granulomas are not a pathognomonic sign of sarcoidosis, being observed also in other diseases, therefore the diagnosis is often of exclusion. We report a case of sarcoidosis with parotid gland involvement in the context of a Heerfordt syndrome, discussing about its clinical presentation, pathogenesis, pathology and differential diagnosis with other granulomatous diseases.

Gastrointestinal stromal tumour of the stomach with osseous differentiation: a case report.

Gastrointestinal stromal tumours (GISTs) are the most common mesenchymal neoplasm of the gastrointestinal tract, while osseous metaplasia of this tumour is an unexpected event. To date, no cases have been reported in the literature. Herein, we report a case of a 60-year-old man affected by a GIST with benign osseous metaplasia and mature bone formation. We also discuss the pathogenesis of intratumoural ossification and review the relevant literature. The prognostic significance of ossification in GIST remains unclear because of the limited cases reported.

HER2 status in advanced gastric carcinoma: A retrospective multicentric analysis from Sicily.

According to the ToGA trial, HER2 has been shown to be predictive for the success of treatment with trastuzumab in advanced gastric cancer (AGC). A number of studies have analyzed HER-2/neu overexpression in gastric carcinoma and identified the rate of HER2 positivity to be markedly varied. To date, the prevalence of HER2 overexpression in Sicilian people with AGC is unknown. Therefore, in the present study, a retrospective immunohistochemical analysis of HER2 was performed in a cohort of 304 AGC samples that were obtained from the archives of 10 Sicilian anatomopathological diagnostic units in order to verify the positive rate of HER2-positive cases. Furthermore, the characteristics of histotype, grade, stage and Ki-67 expression were also analyzed. HER2 overexpression was encountered in 17.43% of all the gastric adenocarcinomas, which was consistent with the results that have been reported elsewhere in the literature. A progressive increase in HER2 overexpression was observed, from the poorly cohesive histotype to the tubular adenocarcinomas and gastric hepatoid adenocarcinomas. HER2 overexpression was significantly associated with a high grade, advanced stage and high Ki-67 labeling index. Further investigations performed jointly by pathologists and oncologists within the geographical area of the present study should confirm that the association of trastuzumab with chemotherapy results in an improvement of survival in patients with AGC.

A case of sclerosing angiomatoid nodular transformation of the spleen.

Sclerosing angiomatoid nodular transformation of the spleen is a rare benign vascular lesion with extensive sclerosis and unknown aetiology. Although its pathogenesis is not clear, it has been postulated that it may represent a peculiar hamartomatous transformation of red pulp in response to an exaggerated non-neoplastic stromal proliferation. However, it is unclear whether SANT is the end stage of a variety of benign splenic conditions including inflammatory pseudotumour, hamartoma or hematoma. Considering that the lesion is benign, splenectomy is curative. We report a new case of SANT, discussing differential diagnosis, immunohistochemical profile and pathogenesis.

Prognostic value of EGFR expression in de novo and progressed atypical and anaplastic meningiomas: an immunohistochemical and fluorescence in situ hybridization pilot study.

AIM: The aim of this study was to assess both the epidermal growth factor receptor (EGFR) protein expression by immunohistochemistry and the EGFR gene amplification by fluorescence in situ hybridization in meningiomas of different grade, in order to evaluate their possible role in the development of the disease. EGFR protein belongs to the family of tyrosine kinase growth factor receptors, which also includes HER2, HER3 and HER4. Elevated expression or activity of EGFR has been reported in several cancers, including brain tumours. EGFR activation can enhance the malignant potential of epithelial tissues. METHODS: We investigated whether there was a difference in the EGFR protein expression and the EGFR gene amplification between the so called de novo malignant meningiomas and recurrent meningiomas with or without malignant progression from a previously lower grade tumor. Our goal was to evaluate if EGFR expression was a useful marker to select patients affected by meningioma with a major risk of recurrences. We also assessed the prognostic value of the EGFR expression on overall survival. RESULTS: Progression from benign meningiomas to atypical or anaplastic meningiomas correlated with an increase in the expression of EGFR protein. Our study shows that EGFR immunostaining in meningiomas directly correlates to the tumor's grade. The EGFR expression did not correlate with the overall survival and the recurrence-free survival of the patients affected by meningioma (de novo, recurrent and progressed). CONCLUSION: We submit that the EGFR expression is not a useful prognostic element to identify patients with a major risk of meningioma recurrence.

Endometrial carcinoma: MR staging and causes of error.

PURPOSE: This study was undertaken to prospectively determine the diagnostic capabilities of magnetic resonance (MR) imaging in detecting myometrial and cervical invasion and lymph node involvement in endometrial carcinoma and to identify the causes of errors in staging endometrial carcinoma. MATERIALS AND METHODS: Twenty consecutive patients with a histological diagnosis of endometrial carcinoma underwent preoperative MR imaging. MR findings were compared with surgical staging, considered as the standard of reference. RESULTS: In assessing myometrial invasion, MR imaging showed 70% accuracy, 80% sensitivity, 40% specificity, 80% positive predictive value (PPV), and 40% negative predictive value (NPV). In detecting cervical invasion, MR imaging had 95% accuracy, 100% sensitivity, 94.4% specificity, 66.7% PPV, and 100% NPV. In evaluating lymph node involvement, MR imaging showed 100% accuracy, sensitivity, specificity, PPV and NPV. Errors in evaluating myometrial invasion were caused by polypoid tumour, adenomyosis and leiomyomas, whereas those in evaluating cervical invasion were caused by dilatation and curettage. CONCLUSIONS: MR imaging is a reliable technique for preoperative evaluation of endometrial carcinoma. Its main limitation is differentiating between stage IA and IB carcinomas, which is not highly important for surgical planning. Cooperation between the gynaecologist and radiologist is mandatory to avoid staging errors.

A rare location of benign osteoblastoma: case study and a review of the literature.

Osteoblastoma is a solitary, benign bone tumor that is rarely localized in the frontal sinus. It consists of hypocellular mineralized tissue that may form large masses or irregular trabeculae. A 31 year old man came to our attention with a 7 month history of diplopia, photophobia, frontal headhaches and progressive exophthalmos with proptosis of the left eye. The patient was submitted to computed tomography (CT) which allowed to appraise the extension of the lesion. The mass expanded inside the left frontal sinus and the upper ethmoidal cells invading the left orbital roof. Considering the extension of the tumor, the site and the connections with contiguous structures, a combination of endoscopic endonasal technique with intraorbital approach was performed. At histological examination typical features of benign osteoblastoma were observed. The sites of predilection for the tumor are the long bones, vertebral column, and small bones of hands and feet. Its occurrence in the skull and jaw bones is relatively rare and represents only 15% of all osteoblastomas. To our knowledge, only 5 cases of osteoblastoma of the frontal sinus have been previously reported in the English-language literature. This report describes a case of benign osteoblastoma in a rare site, namely, the frontal sinus with particular attention about the differential diagnosis and the treatment.    

Morphological and biomolecular characteristics of subcentimetric invasive breast carcinomas in Sicily: A multicentre retrospective study in relation to trastuzumab treatment.

Little information from clinical trials is available regarding the efficacy of trastuzumab treatment in subcentimetric breast carcinomas (BCs). The aim of this study was to verify the existence of correlations between HER2 and hormone receptor status, Ki67 values, grade, histotype and node involvement in a cohort of pT1a,b BCs from an area not widely covered by screening campaigns. A total of 410 pT1a,b BC formalin-fixed paraffin-embedded samples collected from eight Sicilian Anatomo-Pathological Units (APUs) were classified according to the WHO classification and tumour grading was established. Estrogen and progesterone receptor status, Ki67 labelling index and HER2 status were available. Relationships between immunohistochemical data and clinicopathological characteristics were investigated using the Chi-square test; the cohort was analysed with respect to pT1a and pT1b BC as well as to node status. Ductal infiltrating carcinoma was the prevalent histotype in the pT1a and pT1b stages; G2 was a more common tumour grade, with a range between 64.6% and 70% of pT1a and pT1b, respectively. Taking into consideration the lymph node involvement of pT1a,b BC, only 17.1% cases were node-positive without a relevant difference between pT1a and pT1b. No significant differences between pT1a and pT1b BC cases emerged in relation to Ki67 LI, hormone receptors and HER2 status. T1a,b BC cases were stratified by node involvement and a significant relationship was observed with grade as well as with HER2 status. A significant relationship for pT1a cases emerged only for tumour grade, while pT1b cases showed a significant correlation exclusively with HER2 status. Our data clearly support the operative guidelines of the National Comprehensive Cancer Network. Therefore, the combined treatment with trastuzumab plus chemotherapy should be administered only to patients with pT1b or larger BCs. In small HER2-positive pT1a or microinvasive BC, this therapy should be considered on a case-by-case basis, considering tumour grade as the first characteristic.

Gallbladder metastases of breast cancer: from clinical-pathological patterns to diagnostic and therapeutic strategy.

Gallbladder metastasis of breast cancer are rare, particularly linked to lobular histotype and synchronous just in 1/4 cases. A review of the literature has been performed aimed to evidence the patterns of gallbladder metastases of breast cancer finding 15 cases to whom we added a 48 years old post-menopausal woman. 3 weeks after surgery for mixed ductal-lobular breast carcinoma she showed at the abdominal ultrasound, performed for staging, diffuse thickening of the gallbladder wall , coherent with a chronic cholecystitis and with the mild right-upper-abdominal pain that the patient complained in the last months. After laparoscopic cholecystectomy, the pathology report showed a metastatic lobular carcinoma of the breast. Two years later she presented with SNC metastases and died four months later. Lobular histotype is the most frequent breast neoplasm associated with gallbladder metastases. Usually metachronous, these metastases are sinchronous in 28% of cases. Symptoms are usually linked to coexisting acute or cronic cholecystitis. Rarely massive invasions lead to acute abdomen or jaundice. Imaging is rarely diagnostic for neoplasm. Our experience and data from literature lead to careful evaluate every anomaly observed in breast cancer patients. A careful evaluation of abdominal symptoms and of routine imaging examinations performed for staging and for treatment planning, could consent to detect and radically treat the metastases and appropriately assign the chemotherapy. Such approach can lead to discrete survival even in these unfortunate patients. Surgeons and gastroenterologists should be aware of the risk hidden behind apparently benign, mild diseases in such patients.

An orbital lymphoma involving the pterygopalatine and infratemporal fossae. A case report.

Lymphoma is the most common malignant orbital tumor. We describe the imaging features of diffuse orbital follicular lymphoma with extension into the pterygopalatine fossa and infratemporal fossa without bony infiltration.

Lipoma with osteocartilaginous metaplasia: case report and literature review.

Osteocartilaginous metaplasia in lipomas is rare and mainly encountered in large-sized, long-standing lipomas. This entity can be found at almost any site of the body, particularly in the soft tissues of the skeletal system, breast, pharynx, and nasopharynx. We describe a case of lipoma with osteochondroid metaplasia in a 65-year-old woman with an indolent lesion, and discuss differential diagnoses.

Simultaneous leiomyoma and controlateral smooth muscle hyperplasia of the epididymis: a case report.

We report a case of a 66-year-old man with a simultaneous leiomyoma and contralateral smooth muscle hyperplasia of the epididymis. The left nodule showed characteristics of a benign leiomyoma consisting in the homogeneous proliferation of smooth muscle with a typical pattern of interlacing fascicles of spindled smooth muscle cells showing no mitotic activity. The right nodule was made up of bundles of smooth muscle, growing in a perivascular and interstitial pattern, without the homogeneous aspect of contralateral leiomyomatous tumours. The latter finding suggested non-neoplastic hyperplasia of the smooth muscle fibres of the epididymis. At 6 months after surgery, ultrasound of the scrotum showed no evidence of recurrent lesions.

Respiratory epithelial adenomatoid hamartoma: case report and literature review.

We report a case of a 29-year-old male patient with a respiratory epithelial adenomatoid hamartoma (REAH) of the nasal cavity. REAH is a polypoid proliferation of glandular spaces lined by ciliated epithelium and goblet cells in the upper aerodigestive tract. Although REAHs are benign lesions, they may be confused with a variety of other pathologies such as inflammatory polyps, inverted Schneiderian papillomas and low-grade sinonasal adenocarcinomas. The recognition of this entity is important as complete excision is curative.

Oligodendroglioma arising in an immature ovarian teratoma: case report.

We describe the case of an 18-year-old girl with an oligodendroglioma arising in an immature ovarian teratoma. The oligodendroglioma, which closely involved the cystic teratoma, was moderately cellular, composed of monomorphic cells with uniform round nuclei and perinuclear halos with a characteristic "fried-egg" appearance. Rare microcalcifications and a dense network of branching capillaries with a chicken-wire appearance were also observed. By immunohistochemistry, tumour cells showed positivity for S-100, but were negative for GFAP, synaptophysin and neuro-specific enolase. The patient is free of disease on follow-up examination at 24 months.

Thyroid transcription factor 1 (TTF-1) and p63 expression in two primary thyroid papillary carcinomas of branchial cleft cysts.

Malignant lateral cervical cysts can be related to metastatic tumors or rarely to primary thyroid carcinoma arising in branchial cleft cysts. This study evaluates the expression of thyroid-associated transcription factor-1 (TTF-1) and p63 in three branchial cleft cysts and in two primary thyroid papillary carcinoma of branchial cleft cysts. TTF-1 was negative in the nuclei of the lining epithelia of branchial cleft cysts, but positive in the adjacent normal thyroid tissue, while TTF-1 was positive in the nuclei of the lining epithelia and in the nuclei of the papillae and follicles in branchial cleft cysts with ectopic thyroid carcinoma. P63 was positive in the nuclei of the lining epithelia of branchial cleft cysts, but negative in the adjacent normal thyroid tissue. Papillary thyroid carcinoma of branchial cleft cysts displayed p63-positive foci. In conclusion, our results demonstrate that TTF-1 cannot distinguish between primary and metastatic tumors of branchial cleft cysts. The detection of p63 in papillary thyroid carcinomas of branchial cleft cysts could suggest that p63 contributes to the onset of this tumor. It is really important to evaluate if the case has a metastatic derivation or represents papillary thyroid carcinoma arising in ectopic thyroid tissue in a branchial cleft cyst.

About a case of GIST occurring during pregnancy with immunohistochemical expression of epidermal growth factor receptor and progesterone receptor.

The coexistence of gastrointestinal stromal tumors (GISTs) and pregnancy is very rare. We are the first to add to the literature a case report of GIST occurring during pregnancy with immunohistochemical staining for epidermal growth factor receptor (EGFR) and progesterone receptor (PgR). A role of PgR and EGFR in tumor growth should not be excluded, and these findings indicate that the expression of these receptors could provide pertinent biological information required to determine adequate therapeutic regimens. In conclusion, considering that GIST occurring during pregnancy is a rare event, with frequent delay in diagnosis, it is important to consider this diagnosis for early recognition, correct diagnosis, and a better outcome.

Expression of thyroid transcription factor 1 (TTF-1) in extra thyroidal sites: papillary thyroid carcinoma of branchial cleft cysts and thyroglossal duct cysts and struma ovarii.

The thyroid-associated transcription factor-1 (TTF-1) is a nuclear tissue specific protein, found only in thyroid and thyroid tumors regardless of histologic type as well as in lung carcinomas. Most ectopic thyroid tissue are found along the thyroglossal duct tract and around the bilateral main lobes of thyroid glands. Ectopic thyroid tissue within a branchial cleft cyst is a rare abnormality and papillary carcinoma arising in this tissue is extremely rare. Thyroid tissue may also be found as one of the many components of teratoma, particularly those located in the ovary. The aim of this study is to evaluate, through immunohistochemistry, the expression of TTF-1 in branchial cleft cysts with ectopic normal thyroid tissue, in primary thyroid papillary carcinomas of branchial cleft cysts and thyroglossal duct cysts and in struma ovarii, in order to evaluate the expression of this antigen in extra thyroidal sites.

p63 expression in odontogenic cysts.

A total of 123 cases of odontogenic cysts, distributed as follows: 30 follicular (FC), 35 radicular (RC), 53 keratocysts, 1 glandular odontogenic and 4 calcifying odontogenic cysts, were analysed by immunohistochemistry for expression of p63, a component of p53 protein family. In RCs p63 positivity was not only in basal and parabasal layers but also in the intermediate layer and about 1/3 of cases displayed a percentage of stained cells comprised between 0 and <5%, and about 2/3 between >5% and <50%. In FCs positivity was confined to basal and parabasal layers of the epithelium and in the majority of FCs the stained cells were comprised between 0 and <5%. OKCs displayed the most intense and diffuse p63 labeling. In conclusion, these data suggest that p63 expression may be useful to identify cysts type with more aggressive and invasive phenotype supporting the hypothesis of a suprabasal proliferative compartment in OKCs.