A case of excessive autophagocytosis with multiorgan involvement and low clinical penetrance.

An autopsy and microscopic analyses of a 74-year-old female with a clinical history of cardiac hypertrophy and hypertension disclosed a pronounced distension of lysosomal compartment with signs of excessive autophagocytosis, predominantly in cardiomyocytes, hepatocytes and smooth muscle cells of the small intestine. The histological storage pattern did not correspond to the usual changes seen in defined lysosomal storage disorders. The amount of age-related lipopigment was low in all tissues. Confocal microscopy of liver tissue samples documented a progressive loss of mitochondrial epitopes in the distended lysosomal compartment along the porto-central axis of hepatic lobules. The possibility to detect subunit c of mitochondrial ATP synthase (SCMAS) indicated extensive intra-lysosomal degradation of mitochondria, both in hepatocytes and smooth muscle cells. The SCMAS epitope can thus be considered a valuable immunohistochemical marker of autophagocytic mitochondrial degradation. The distended lysosomes also displayed tissue specific ubiquitination. Absence of immuno-detectable p62 protein excluded aggresome formation. An inherent dysfunction of the late endosomal/lysosomal LAMP2 protein (Danon disease), was excluded on the basis of LAMP2 gene sequence analysis and LAMP2 protein levels. Whether the observed process reflects a primary dysregulation of the constitution of the autophagosomal membrane or was induced by defects in other cellular components, remains unanswered. Whatever mechanism involved, the findings should be considered relevant in differential diagnostics, despite their low clinical penetrance, should be registered and thus rendered available for future definition.

[Pathology and eschatology]. / Patologie a eschatologie.

The topic of death has attracted peoples attention since ancient times as well as it has fascinated with its omnipresence and unavoidability. In the emotionally extreme situation of passing to death, transitional rituals represent remarkable spiritual aid. In this essay, this is documented by a particular story.

Mucoepidermoid carcinoma of the breast.

Mucoepidermoid carcinoma of the breast is a very rare type of neoplasm with a very distinct histology, immunohistochemistry as well as prognostic characteristics. Two cases of this type of breast carcinoma are presented. Both tumors were microscopically composed of intermediate, epidermoid and glandular cells. The first case was a high grade tumor with focal necroses, where epidermoid and mucinous cells were found only as isolated elements. The second case was of low grade, the squamous cells showed keratinization and glandular cells formed distinct small lumina. The prognostic characteristics, differential diagnosis, grading system and immunohistochemical profile of these rare neoplasms are described.

[Primitive nonneural granular cell tumor of skin (case report)]. / Primitivní nonneurální nádor kuze z granulárních bunek (kazuistika).

Primitive nonneural granular cell tumor was recognized in an 82-year-old man, mimicking a granuloma in the scalp. Despite its disturbing cytomorphology, this histogenetically enigmatic tumor with unusual immunoprophile (NK1-C3, CD 68 and NSE positivity; S-100 protein negativity) behaves indolently.

[Spindle cell and cuboidal renal cell carcinoma (loopoma). 10 case reports]. / Vretenobunecný a kuboidální renální karcinom (loopom). Popis 13 prípadu.

BACKGROUND: Current classification systems of neoplasms arising from renal parenchyma distinguish 5 categories of renal cell carcinoma (RCC), i.e. conventional RCC, papillary RCC, chromophobe RCC, collecting duct/medullary RCC and unclassified RCC. We present 13 cases of unusual and unclassified spindle and cuboidal renal cell carcinomas. METHODS AND RESULTS: The studied group consisted of 13 patients (7 men and 6 women). They ranged in age from 22 to 65 years (mean 57.3). Generally, the tumours were well circumscribed and confined to the kidney, whitish to grey on section with a diameter 4.5-13 cm (mean 8.6 cm). One patient was investigated for loin pain and nocturia. Three patients had staghorn nephrolithiasis and vague sonographic findings in renal parenchyma. In one patient the renal tumour was found when examined on follow-up examination for prostatic adenocarcinoma. None of our patients was known to have elevated levels of parathyroid hormone due to hyperplasia, adenoma or carcinoma of the parathyroid gland. Clinical follow-up of the patients ranged from 9 months to 8 years (mean 2.3 years). Microscopically, the tumours were composed of two main populations of cells: flattened, spindle cells with sparse cytoplasm and small cuboidal cells with clear to light eosinophilic cytoplasm. Eight patients are currently well without signs of recurrence or metastasis, one had metastasis in the regional lymph node at the time of nephrectomy, one died of unrelated cause, and three were lost to follow-up. CONCLUSIONS: We present 13 cases of unclassified RCC. Our cases were histologically, immunohistochemically and ultrastructurally similar to the hitherto reported case reports of this variant of RCC. It is obvious, that that variant of RCC should be recognised as a new subtype of RCC.

Spindle and cuboidal renal cell carcinoma, a tumour having frequent association with nephrolithiasis: report of 11 cases including a case with hybrid conventional renal cell carcinoma/ spindle and cuboidal renal cell carcinoma components.

AIMS: We present the largest series of an unclassified subtype of renal cell carcinoma, which seems to be a distinct morphological entity and which is sometimes designated as spindle and cuboidal renal cell carcinoma. METHODS AND RESULTS: Eleven cases of spindle and cuboidal renal cell carcinoma were found among 7000 primary renal cell tumours in Pilsen's routine and consultation files. The patients were five men and six women. They ranged in age from 22 to 65 years (mean 56.8). Microscopically, the tumours were composed of two main populations of cells. First, the preponderant type of cells was formed by flattened, spindle cells with sparse cytoplasm. The second cell type was a small cuboidal cell with clear to light eosinophilic cytoplasm. Spindle-shaped cells were arranged in a fascicular pattern often reminiscent of low-grade smooth muscle tumours. Solid areas of spindle cells were also present. Small cuboidal cells formed sparse tubular structures lined by a row of single cells. In addition to all previous published cases of spindle and cuboidal renal cell carcinoma we observed an association of nephrolithiasis in our cases. It was seen in 3/11 of our patients. A previously unreported feature is the occurrence of a conventional renal cell carcinoma component in one of our cases. Seven of our patients are currently well without signs of recurrence or metastasis, one had metastasis in a regional lymph node at the time of nephrectomy, one died of an unrelated condition, and two were lost to follow-up. CONCLUSIONS: We present 11 cases of spindle and cuboidal renal cell carcinoma, which is believed to be a distinctive morphological entity. Our cases were histologically, immunohistochemically and ultrastructurally similar to the previously reported cases of spindle and cuboidal renal cell carcinoma. In contrast to all previously reported cases of spindle and cuboidal renal cell carcinoma, we observed an association with nephrolithiasis in three of our cases; moreover, one of our tumours had a conventional renal cell carcinoma component and another revealed a metastatic focus in a regional lymph node. None of our patients died of the disease. This study confirms that spindle and cuboidal renal cell carcinoma has a low malignant potential.

[Fetal rhabdomyoma of the mucosa of the lip (case report)]. / Fetální rhabdomyom sliznice rtu (kazuistika).

In a 15-year-old male the foetal type of rhabdomyoma was diagnosed in the mucosa of the lower lip. Diagnosis of this relatively rare tumour prevents possible mistaking for a malignant process and an inadequate therapeutic procedure.

[Paratesticular spindle cell embryonal rhabdomyosarcoma in a 50-year-old man (case report)]. / Paratestikulární vretenobunecný embryonální rhabdomyosarkom u 50letého muze (kazuistika).

Spindle cell subtype of embryonal rhabdomyosarcoma in paratesticular region was diagnosed in a 50 year-old man. This relatively rare entity was constituted in 1992 and observed but in children up to now.

Ossifying fibromyxoid tumor of soft parts: a report of 17 cases with emphasis on unusual histological features.

Ossifying fibromyxoid tumor of soft parts is an unusual benign neoplasm, with a tendency for local recurrence. Its typical microscopic appearance is that of a multinodular proliferation of round to spindle shaped cells separated by fibrous bands in which bone formation is often seen. Herein, we present the clinicopathologic features of 17 examples of this tumor with particular emphasis on some unusual histopathologic features that may place pitfalls in the diagnosis of this tumor, including satellite micronodules, mucinous microcysts, absence of myxoid areas, crush artifact, multiple microcalcifications, epidermoid cysts, atypical chondroid differentiation with binucleate lacunar cells, pericytic growth pattern, and malignant change. Awareness of these unusual morphologic features should lead to a search for areas displaying the more typical features of ossifying fibromyxoid tumor to arrive at a correct diagnosis.