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This article reports an unusual case of aggressive extraocular sebaceous carcinoma located on the scalp with subsequent usurpation of the bone and penetrating through the bone and meninges to the brain in a 56-year-old man affected by Muir-Torre syndrome. Microscopically, the sebaceous neoplasm was located in the middle to deep dermis without any connection to the epidermis and showed a multinodular growth with neoplastic nodules with a central comedo-type necrosis separated from each other by fibrovascular stroma. The nodules were composed of varying proportions of mature sebaceous cells and atypical basaloid cells with high degree of atypia, including high nuclear/cytoplasmic ratio, nuclear pleomorphism, macronucleoli, atypical mitoses, and necrosis. The neoplasm was totally removed. Histopathological examinations of the recurrent lesion showed identical morphological features and, in addition, signs of the tumors growing through the periosteum were noted. In the final excision specimen, both the dura mater and the brain tissue were infiltrated by the sebaceous carcinoma. The diagnosis of Muir-Torre syndrome was confirmed by molecular genetic investigation that revealed an identical germline mutation in MSH2 gene in several family members, some of whom had colorectal tumors.

Mucin and mucin-like material are features of mucinous tubular and spindle renal cell carcinoma (MTS RCC) but are rarely seen in papillary renal cell carcinoma (PRCC). We reviewed 1311 PRCC and identified 7 tumors containing extracellular and/or intracellular mucinous/mucin-like material (labeled as PRCCM). We analyzed these using morphological, histochemical, immunohistochemical, and molecular genetic methods (arrayCGH, FISH). Clinical data were available for six of the seven patients (five males and one female, age range 61-78 years). Follow-up was available for four patients (2-4 years); one patient died of widespread metastases. Tumor size ranged from 3 to 5 cm (mean 3.8). Of all cases, histological architecture showed a predominantly papillary pattern. Mucin or mucin-like was extracellular in one, intracellular in three, and both intra/extracellular in three cases. All tumors were positive for AMACR, vimentin, and OSCAR, while CK7 was positive in four. Mucicarmine stain was positive in all cases, PAS in six and Alcian blue in three cases. Five tumors were positive for MUC 1, but none were positive for MUC 2, MUC 4, or MUC 6. In only four cases, genetic analysis could be performed. Gain of chromosomes 7 and 17 was found in two cases; gain of 17 only was found in one case. Loss of heterozygosity of 3p was found in one case together with polysomy of chromosomes 7 and 17. No abnormalities of VHL, fumarate dehydrogenase, and TFE3 genes were detected. We conclude that PRCCM is a rare but challenging subtype of RCC that deserves to be further studied. In all the tumors, the mucin-like material was found in those stained with mucicarmin, but other conventional and immunohistochemical stains did not reveal consistent features of a single mucin. The molecular-genetic profile of these tumors was most consistent with that of typical papillary RCC, although one case had mixed genetic features of papillary and clear RCC. PRCCM has metastatic potential, as evidenced by one case with widespread metastases. It remains to be determined whether PRCCM represents a unique tumor subtype, deserving to be distinguished from other subtypes of PRCC.

Elastofibroma is a tumorlike lesion occurring usually in the subscapular region of elderly females. In this study, 18 cases of elastofibromatous tissue retrieved from the spinal canal were analyzed to elucidate its frequency and possible clinical associations. The patients included 8 men and 10 women with a mean age of 63.4 years (range, 40-84 years). The elastic nature of the material was confirmed by Weigert's elastic stain and immunohistochemically. Elastofibroma was diagnosed in 6 patients, and elastofibroma-like tissue was found in 11 samples. The finding of elastofibromatous tissue was associated with clinical diagnosis of juxtaarticular cysts (3 cases), thickening of ligamentum flavum (4 cases), extradural expansion (2 cases), metastatic involvement of the dorsal spine (3 cases), and a vertebral fracture (1 case). Two cases were located above the transpedicular fixation. Elastofibromatous tissue may be found in approximately 2.6% of all spinal biopsies and it may take part in compression of spinal cord and nerve roots.

Aim: To describe the case history and new histopathological findings of a young woman suffering from moyamoya disease., Methods: The patient underwent brain computed tomography, magnetic resonance imaging and brain angiography. Vessel samples of a. temporalis superficialis were processed by standard histopathological and immunohistochemical methods by analysis of VEGF, VEGFR and nestin expression., Results: Brain angiography revealed both internal carotid artery stenoses and stenoses of the anterior cerebral arteries. Stenotic parts of vessels were accompanied by coiled and elongated vessels with a picture of "smoke puffs carried away by breeze" after contrast medium application. Histological examination showed: obstruction of lumen, fibrocellular intimal thickening, tortuosity and disruption of internal elastic lamina. Imunohistochemistry confirmed a defect of the internal elastic membrane of the muscular arteria and progressive intimal thickening accompanied by abnormal smooth muscle cells and, VEGF/VEGFR expression in intima. Nestin positivity in endothelium of arteria indicated that endothelial cells are activated., Conclusion: We found that the endothelium of affected vessels is nestin positive. This, together with the finding of VEGF/VEGFR expression, might suggest an active angiogenetic process We present a new conception of pathogenesis but further studies with higher number of patients are necessary to elucidate the role of these growth factors in the moyamoya disease.

High-grade transformation of acinic cell carcinoma (AciCC) (previously referred to as dedifferentiation) is a rare phenomenon characterized by histologic progression of low-grade AciCC to high-grade adenocarcinoma or undifferentiated carcinoma. We report 9 new cases with immunohistochemical analysis and examination of HER-2/neu and p53 genes to further define the profile of this tumor. Histologically, the high-grade component was composed of polymorphic cells with a high mitotic rate arranged in glandular and solid growth patterns with comedonecrosis. The MIB-1 labeling indices were elevated in the high-grade component, as compared with the low grade conventional AciCC. The high-grade component of AciCC was characterized by strong membrane staining for CK18 and beta-catenin, and nuclear staining for cyclin-D1. HER-2/neu, androgen receptor, C-kit, and epidermal growth factor receptor were absent from both low-grade and high-grade components. In contrast, S-100 protein, alpha-1-antitrypsin, and lysozyme were lost only in high-grade foci of transformed AciCC. The median age was 61 years (with range from 43 to 76 y). Lymph node (LN) metastases were found in 5 of 9 cases (56%). Distant metastases to the lungs (n=4), pleura (n=2), brain (n=3), and peritoneum (n=1), and paraaortic, paratracheal, and mediastinal LNs (n=2) were observed. Six of 9 patients (66%) died from tumor dissemination, all with a median overall survival of 4.3 years (range: 1 to 9 y). The high propensity for LN metastases indicates the need for neck dissection at the time of diagnosis.

The authors report two examples of nodular hyperplasia of the Bartholin gland. Each occurred in the vulva, close to the introitus of women aged 33 and 49 years, who presented with slightly painful lesions that were clinically thought to be cysts. Grossly, both masses exhibited a multilobular architecture, were elastic, were gray in color, and measured 4 cm and 3.2 cm in greatest dimension. On microscopic examination, the lesions looked similar and exhibited an increased number of secretory acini, with maintenance of the normal duct-acinar relationship--features compatible with nodular hyperplasia. Rare dilated ducts were observed, and intraluminal inspissated secretions were occasionally seen. In one case, there were a focal mild inflammatory infiltrate, squamous metaplasia of larger ducts, and rare ruptured ducts with extravasated stromal mucin. Clonality analysis performed in one case revealed a monoclonal pattern, suggesting that the lesion may be a neoplastic process rather than simple reactive hyperplasia.

Eight cases of reactive nodular fibrous pseudotumor of the gastrointestinal tract are presented. The patients included 6 males and 2 females between the ages of 1 and 68 years (mean age 41.5 years). Three tumors involved the small intestine, and 5 of the investigated lesions were located in the large bowel. Of these, 2 originated in the sigmoid colon, 1 in the cecum, 1 in the appendix, and 1 in the large bowel not otherwise specified. The tumors' size varied from 3 to 10 cm in the greatest diameter (mean 6.2 cm). Histologically they were composed of stellate or spindle shaped cells resembling fibroblasts arranged haphazardly or in intersecting fascicles, embedded in a collagen-rich stroma, with sparse intralesional mononuclear cells frequently arranged in lymphoid aggregates. Immunohistochemically, the lesions were positive for vimentin (7/7), smooth muscle actin (8/8), muscle-specific actin (5/7), cytokeratins AE1/AE3 (6/7), and CAM 5.2 (1/7), and antigen CD68 (1/7). No case (0/8) reacted positively with antibody to CD117 (c-kit). Genetically no substitutions, deletions, or insertions occurred in exon 11 in all analyzed samples. Likewise, no deletions or insertions in part of exon 9 were observed. Ultrastructurally the tumor cells revealed features typical of myofibroblasts. According to the morphologic, immunohistochemical, and ultrastructural features mentioned above, especially to the positivity of low-molecular-weight cytokeratins, we propose this lesion to be related to a proliferation of multipotential subserosal cells rather than ordinary myofibroblasts or fibroblasts.

Eighteen cases of Vanek's tumors are presented. The patients included nine men and nine women between the ages of 45 and 93 years (mean, 66.2 years). Nine cases were clinically diagnosed as polyps of the gastric antrum, five cases as polyps of the stomach (not otherwise specified), one polyp was located in the ileum and the three remaining polyps in the small intestine (not otherwise specified). The thirteen polyps with available size information measured from 0.4 to 5 cm in the greatest diameter (mean, 2.2 cm). Immunohistochemically, the affections were positive for vimentin (18/18) and CD34 (15/18). All the cases negative for CD34 also lacked concentric onion skin-like formations of the spindle cells around glands and vessels. The different immunophenotype and absence of concentric formations could be explained by the existence of two different lesions commonly designated as Vanek's tumor (inflammatory fibroid polyp) or by the hypothesis of various evolutional stages. In the differential diagnosis, it is important to distinguish namely eosinophilic gastroenteritis, gastrointestinal stromal tumor, inflammatory pseudotumor, hemangioendothelioma, and hemangiopericytoma. In contrast to gastrointestinal stromal tumors, genetically no substitution, deletion, or insertion occurred in c-kit exon 11 in all analyzed samples. Likewise, no deletion or insertion in part of c-kit exon 9 was observed.

We present the case of a 74-year-old Caucasian male with an expansive process of the left kidney. No clinical and laboratory signs of polycytemia or hypertension were present. Microscopically, the spherical main tumor mass was composed of small basophilic cells arranged in longitudinal branching tubules typical of metanephric adenoma (MA). Another component, different from MA, was formed by a tumor in a papillary and tubopapillary arrangement. This component was diagnostic of grade 3 papillary renal cell carcinoma. The third component, which was merging with the papillary one, was composed of sarcomatoid, spindle cell carcinoma with prominent nuclear polymorphism and a high number of mitotic figures, including atypical mitoses. The sarcomatoid component filled the entire cortico-medullary space and infiltrated the surrounding non-neoplastic renal tissue, including the renal pelvis. Areas of necroses, hemorrhages, and mitotic figures were frequent. No structures of Wilm's tumor were seen in our case. One year after the excision, the patient is without recurrence and metastasis. The existence of the above mentioned tumor supports the hypothesis that metanephric adenomas and papillary renal cell carcinomas are interrelated lesions.