[Primary sebaceous carcinoma of the breast; three casuistic reports]. / Primární sebaceózní karcinom prsu - klinicko-morfologická analogie kozní adnexální léze? Popis trí prípadu.

OBJECTIVE: Presentation of three cases of primary sebaceous carcinoma of the breast particularly focusing on the clinical, biological and molecular genetic aspects regarding their possible pathogenetic relationship to the Muir-Torre and Lynch syndrome. Reviewed are basic principles of miscosatellite instability and dysregulations of mismatch repair genes by these inherited tumorous syndromes especially looking for morphologic and fenotypic parallels between sebaceous carcinomas of the breast and their cutaneous counterparts. DESIGN: Three casuistic reports. SETTING: Biopsy Lab s.r.o. and Sikl's Department of Pathology, Charles University and Faculty Hospital, Pilsen. METHODS: Three casuistic reports are covered in detail including broad immunohistochemistry (LSAB+, Dako). RESULTS: In three women aged 51 to 69 was diagnosed primary sebaceous carcinoma of the breast with maximum dimension ranged from 13 to 41 mm. Lumpectomy was performed at the smallest one and included sentinel lymph node examination turned out to be negative. The other two patients underwent modified mastectomy with axillary lymph node dissection. In tumor sized 25 mm, macrometastasis 4 mm in maximum dimension was identified in one axillary lymph node. Follow-up available in two women, both without regional metastasis, revealed no local or distant progression of the disease. The histology consisted of conventional G1-2 invasive duct carcinoma in all cases and sebaceous differentiation represented 10-40% of all neoplastic population. The patognomic features included cells with ample eosinophilic/clear foamy cytoplasm, partly with multiple crowded small vacuoles characteristically impressing the nuclei. All tumors were ER positive and Her2/neu 2+ lesion was not amplified. Strong diffuse nuclear expression of MLH1, PMS2, MSH2, MSH6 proteins in all cases confirmed unaltered mismatch repair genes pathway. Familial tumorous stigmas were not evident and subsequent close clinical monitoring in two of the patients tracked down no intern malignancy, including cutaneous sebaceous lesion.

[Warfarin-induced hemorrhagic pseudocyst in the pelvis of a woman with an inherited disorder of blood coagulation, complicated by pelvic bone pseudoxanthoma mimicking Erdheim-Chester disease]. / Warfarinem vyvolaná hemoragická pseudocysta malé pánve u zeny s vrozeným genetickým defektem koagulace komplikovaná usuracním pseudoxantomem pánevní kosti napodobujícím Erdheim-Chesterovu nemoc.

A fifty-year-old woman with developmental dysplasia of the hip underwent total hip arhtroplasty, and subsequently developed recurrent venous thrombophilia of the lower extremities. Hematological examination revealed an inherited disorder of blood coagulation (homozygous mutation of the 5,10-methylenetetrahydrofolate reductase gene) and therefore longterm Warfarin anticoagulation therapy was started. A year later she was diagnosed with a large pelvic posthemorrhagic pseudocyst (hematoma) located below the musculus iliacus and adhering to bone in the region of posterior acetabulum. The condition was complicated by usuration and focal osteolysis of the adjacent pelvic bone. Histological examination of the hematoma showed characteristics of an unusual pseudoxanthoma mimicking Erdheim-Chester disease. The differential diagnosis of histological findings is discussed and recent relevant literature is reviewed.

[Benign mesenchymal stromal tumor of the breast simulating benign schwannoma in an 81-year-old male--a case report]. / Benigní vretenobunecný stromální tumor prsu podobný schwannomu u 81letého muze-- kazuistika.

Presented is an unusual case of a benign mesenchymal stromal tumor of the breast in an 81-year-old male. The basic appearance of the lesion simulated benign schwannoma and was misinterpreted as a low-grade myxoid liposarcoma initially. Well-circumscribed, gray-white mass measuring 35 mm in maximum diameter was discovered deep in the parenchyma of the completely removed breast. Microscopically, the lesion consisted of myxoid, richly vascular background where dominated oval or spindle cells with impressive palisading replicating that of benign schwannoma. Rarely, the large multinucleated (floret-like type) cells were visible; no nuclear atypia or mitotic figures were found. Immunohistochemical examination confirmed expression of estrogen and progesterone receptors, antigen Bcl2 and also focal desmin positivity. Clinical examinations disclosed no objective reason for possible hyperestrinism; no other therapy followed and the patient is free of disease 19 months after operation. On the background of both detailed review and differential diagnosis of benign, so-called stromal tumor of the female breast, the rarity of this microscopic finding in male is documented.

[Papillary renal cell carcinoma surrounded by unusual fibrotic reaction resembling inflammatory pseudotumour--a case report]. / Papilární renální karcinom lemovaný neobvyklou fibrózní reakcí pripomínající zánetlivý pseudotumor--kazuistika.

Authors report clinicopathological features of an unusual case of composite renal lesion occuring in 32-year-old Caucasian male. The patient was followed for cystic lesion of retroperitoneal-renal region for 5 years. He was indicated for resection of the cystic lesion because of changes of the retroperitoneal mass on CT scan. A cyst was located on upper renal pole. A huge cystic mass filled mainly by necrotic material was resected and submitted for histological examination. The wall of the cyst was composed of fibrous tissue, indistinguishable from inflammatory pseudotumor on histological level. The vital intracystic tissue was formed by well-differentiated papillary renal cell carcinoma. The most important step within differential diagnosis is distinguishing of sarcomatoid differentiation in renal cell carcinoma. This very rare case demonstrates the importance of careful examination of all spindle cell lesions of the kidney.

Benign renal angiomyoadenomatous tumor: a previously unreported renal tumor.

We describe a unique benign tumor of the kidney in a 93-year-old man. Microscopically the tumor was composed of an intimate intermixture of epithelial component and smooth muscle tissue, which formed the stroma of the tumor. In some parts the epithelial cells in adenomatous tubular formations were endowed with clear snouts. These clear snouts had a blister-like quality and grew on the secretory cells lining the tubules. No atypias, mitoses, or pleomorphism were present in the tumor. The muscular component consisted of poorly cellular, HMB-45-negative, leiomyomatous bundles, which greatly differed from that of angiomyolipoma. It encircled the whole tumor and intimately intermingled with the epithelial component. These leiomyomatous bands formed focally abortive vessels, which had incomplete and irregular walls and lacked an elastic layer. Even more interesting was a peculiar vascularization of the tumor. All epithelial tubular structures of the tumor revealed an intimate association with small capillaries. A fine labyrinth of the capillaries rimmed the rows of the epithelial cells. To the best of our knowledge this tumor differs from all previously described.

[Renal angiomyolipoma with a clear cell component]. / Angiomyolipom ledviny s komponentou nádoru z jasných bunek.

Case report of a 52-year-old woman with angiomyolipoma of the left kidney. The tumor had appearance of a typical angiomyolipoma predominantly composed of spindle cells, some epithelioid cells and few large hyalinized vessels. Adipose tissue was concentrated into small foci. Unusual presence of large cells with a clear fine granular cytoplasm closely resembled cells of the "sugar tumor" of the lung. Epithelioid cells and occasionally spindle cells were HMB45 positive. A minority of cells also coexpressed S100 protein. Clear cells were usually strongly positive for HMB45 too. Our findings supported consideration of a close relation between clear cell ("sugar") tumor of the lung and angiomyolipoma.

Waldenström's macroglobulinemia with pulmonary amyloidosis.

We present a case of AL-type amyloidosis involving pulmonary parenchyma and hilar and mediastinal lymph nodes in a patient with Waldenström's macroglobulinemia. Direct infiltration of pulmonary parenchyma by lymphocytes and plasma cells is an important factor in the etiology and pathogenesis of pulmonary manifestations of the disease. Despite detailed examination, we did not find amyloid depositions in any extrapulmonary site.

[Mixed myelodysplastic and myeloproliferative syndromes]. / Smísené myelodysplastické a myeloproliferativní syndromy.

BACKGROUND: An injury to the hemopoietic stem cell may lead to the aplasia of hemopoiesis, myelodysplasia and to an unregulated myeloproliferation. There is not a strict demarcation of them, so that mixed syndromes can develop as are hypoplastic syndromes on one side and mixed myelodysplastic and myeloproliferative syndromes (MDS-MPS) on the other side. METHODS AND RESULTS: Among our 616 pts with MDS we looked for those cases, who had beside myelodysplasia signs of myeloproliferation with increased number of blood cells. They were examined in detail including bone-marrow histology, bone marrow cultivation, cytogenetics and bcr-abl gen. Signs of MDS-MPS were found in 22 patients at the first contact with the patient (13 patients had thrombocytemia and 9 patients had leukocytosis). Further 7 patients were diagnosed as MDS, proliferative syndrome developed after several months (MDS-MPS in evolution). The level of thrombocytemia was relatively stable, the number of leukocytes was progressive. All subtypes of MDS were found. All subjects had variable degree of anemia. Ring-sideroblasts and myelofibrosis were frequent finding in MDS-MPS. Men prevailed in patients with leukocytosis. Cytogenetic and cultivation findings were similar to MDS cases, deletion of long arm of chromosome 20 was present in 3 patients. Five patients transformed to acute myeloid leukemia. CONCLUSIONS: Sings of myelodysplasia and myeloproliferation were found in 4% of our MDS patients, designated as mixed myelodysplastic and myeloproliferative syndrome (MDS-MPS). In this syndrome beside evident signs of myelodysplasia thrombocythemia or leukocytosis with the release of bone marrow precursors are present. In only one case polycythemia was encountered.

Corticomedullary tumors of the adrenal glands. Report of two cases. Association of corticomedullary tumor with spindle cell sarcoma.

We describe two cases of corticomedullary tumors of the adrenal gland. The patients suffered from Cushings syndrome and paroxysmal hypertension. The corticomedullary tumors consisted of benign looking cortical adenoma cells growing on the background of the pheochromocytoma cells. We further present the ultrastructural and immunohistochemical features of these tumors. Focally a spindle cell sarcoma arising from the corticomedullary tumor was found in one case. The spindle cell sarcoma was immunohistochemically negative with antibodies to chromogranin, synaptophysin, cytokeratin and S-100 protein. Ultrastructurally the sarcoma was composed of undifferentiated primitive cells poorly endowed with cytoplasmic organelles. Focal transitions of the pheochromocytoma into the spindle cell sarcoma were seen. It is hypothesized that the spindle cell sarcoma was arising from the pheochromocytoma component of the corticomedullary tumor.

Mixed myelodysplastic and myeloproliferative syndromes.

Aplastic anemia, myelodysplastic syndromes (MDS) and chronic myeloproliferative diseases (MPD) are stem cell disorders. There is no clear-cut demarcation of them. Hypoplastic MDS displays features of aplastic anemia and MDS, on the other side mixed myelodysplastic and myeloproliferative syndromes (MDS-MPS) develop. In our collection of 566 MDS patients, features of myelodysplasia as well as myeloproliferation, MDS-MPS, were present in 25 patients (4.4%). Twelve patients had at the time of diagnosis megakaryocytic proliferation and thrombocythemia beside signs of MDS, and seven had myelodysplasia with granulocytic proliferation and leukocytosis. In another six patients, MDS was the first diagnosis and the proliferative phase developed later during the course of the disease. These patients can be characterized as MDS-MPS in evolution. All subjects had a variable degree of anemia. While the level of thrombocythemia has been relatively stable, the number of leukocytes has been progressive, but rarely extended beyond 100 x 10(9)/l. Ring-sideroblasts and myelofibrosis were frequent findings. Two more homogeneous MDS-MPS groups emerged in our analysis: sideroblastic anemia with thrombocythemia and a group fulfilling the criteria of Philadelphia chromosome negative and bcr-abl negative "atypical chronic myeloid leukemia (aCML)'. One patient with thrombocythemia and three with leukocytosis (23%) transformed to acute myeloid leukemia (AML). Men prevailed (12/13) in patients with leukocytosis and MDS-MPS in evolution. Of the 46% MDS-MPS patients with chromosomal aberrations, del(20)(q) is of interest.

Immunohistochemical phenotypes of histioeosinophilic granulomas of thymus and reactive eosinophilic pleuritis.

Immunohistochemical phenotyping of 7 cases of histioeosinophilic granulomas of thymus and 4 cases of reactive eosinophilic pleuritis was performed. All 11 cases of these 2 entities reacted identically. This supports the view that these 2 lesions are similar in nature. Both lesions are reactions to the presence of insufflated gas and its resorption.

A common antigenic determinant of vimentin and desmin defined by monoclonal antibody.

A monoclonal antibody, VI-01, to vimentin and desmin has been isolated from a fusion of mouse myeloma cells with immune spleen cells. The antibody appeared specific for vimentin of various species and smooth muscle desmin and did not recognize other intermediate filament proteins when cell lines and tissue sections were assayed in immunofluorescence and cell lysates in immunoblotting. The binding test with purified vimentin and desmin confirmed these results. The antibody can differentiate carcinomas from sarcomas in human diagnostic surgical pathology.

A sarcoma of thymic stroma with features of liposarcoma.

A case of recurrent sarcoma arising from the stroma of the thymus and having the microscopic features of well-differentiated and pleomorphic liposarcoma is presented. No previous reference was found in the literature to this tumor type, which could be viewed as the malignant counterpart of thymolipoma.