Search

Objective: To address the difficulty and possible pitfalls in diagnostics of breast mtttstases from extramanmnary primaries--a pathobiological phenomenon that is not always thought of. To underline the open-minded differential diagnostic algorithm that is naturally weakened by dominant straightaway logistics in a routine contemplation. To emphasize the importance of complete and relevant clinical data including the anamnesis. To evaluate the effectiveness velocity and cheapness of imunuohistochemistry at reaching the correct diagnosis., Design: Comprehensive study of the unusual pathogenetic setting based on personal experience with eight observations and literature review., Setting: Biopsy Lab s.r.o. and Sikl's Department of Pathology, Charles University and Faculty Hospital, Pilsen., Methods: Detailed clinicopathologic characteristics and review of morphologic spectrum in nine cases of extramammary tumors metastatic to the breast (three melanomas, two small cell carcinomas, one carcinoma from salivary gland, ovary, kidney and prostate). Standard immunohistochemistry was used as a reliable tool for phenotypic evaluation., Results: In total nine cases, eight women and one man, were identified among 3238 of malignant breast tumors in the years 2005-2010. There were three melanomas, two small cell carcinomas and by one carcinoma from salivary gland, ovary, kidney and prostate. The age ranged from 43 to 81 years and maximum size of lesion spanned 7-31 millimeters. All specimens were core needle biopsy and only in one patient the past medical history concerning the nonbreast malignancy was known (ovarian serous carcinoma). Two neoplasms (one of the melanomas and small cell carcinomas) were the first sign of underlying malignant process ever; in this melanoma the clinical workout to disclose primary skin lesion failed. These two tumors were also the only ones, where the multiple or bilateral involvement of breast was clinically documented. There was evident other organs spread in three cases at the time of diagnosis (generalization in melanoma and prostate carcinoma; skin metastasis in salivary gland carcinoma) and axillary lymph nodes involvement in two melanomas. In five patients where follow-up was available, three died of tumor in interval from five to eighteen months (in turn melanoma, small cell and prostate carcinoma). Four original pathologic verdicts turned out to be wrong (two melanomas, salivary gland and prostate carcinoma); in three of them final correct diagnosis was established even after additional clinical information about morphologically verified malignancy in the past.

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.

Objective: The aim of this study is to address difficulties in diagnosis of the extraintestinal gastrointestinal stromal tumor (GIST) when even in ovary is the tumor. One should ever think of the GIST in the case of peritoneal dissemination of the spindle/epithelioid cell tumor. In contrary, the late intraabdominal recurrence of primary both epithelial and non-epithelial tumor of genital tract can be undistinguishable by pure morphology. Complete clinical records and accurate operation field topography are both of great value. Documenting this phenomenon, presented is both late intraabdominal dissemination of primary uterine endometrial stromal sarcoma and massive ovarian involvement by extraintestinal GIST., Design: Two case reports., Setting: Biopsy Lab s.r.o. and Sikl's Department of Pathology, Charles University and Faculty Hospital, Pilsen., Methods: The two casuistic reports are covered in detail including broad immunohistochemistry (LSAB+, Dako) and genetics (ABI Prism 310, PE/Applied Biosystems)., Results: In 75-year-old woman, 5 cm tumor in maximum diameter of the mesentery was diagnosed as an extraintestinal GIST. Multiple peritoneal recurrence occurred ten years later and the tumor has been reclassified as a disseminated endometroid stromal sarcoma. Ultimately, comprehensive search of clinical files confirmed hysterectomy and adnexotomy in 1973. The second case describes 49-year-old woman operated for tumorous obliteration of the small pelvis where a tumor 9 cm in maximum diameter was found. Initially, predominant epitheloid morphology of the tumor led to the diagnosis of primary epithelial malignancy, sex-cord stromal tumor or metastatic melanoma of the ovary. Finally, the help of immunohistochemistry and molecular biology rendered the tumor as an extraintestinal GIST, ovarian primary not excluded.

Objective: Comprehensive review of current topic called basal-like carcinoma of the breast, focused on morphology, molecular biology and clinico-pathological aspects concerning biology, prognosis and rational therapy., Design: Review article., Setting: Biopsy Lab s.r.o. and Sikl's Department of Pathology, Charles University and Faculty Hospital, Pilsen., Methods: Summarized are recent data, diagnostic principals and clinico-pathological recommendations of basal-like carcinoma and outlined is comprehensive guide for daily diagnostic and therapeutic practice., Results: Basal-like carcinoma of the breast is a subset of tripple negative lesions (ER-/PR-/Her2-) and accounts for approximately 5-7% all ductal carcinomas. This is a highly aggressive tumor characterized by rapid systemic dissemination, especially to the lung and brain. By definition, there is expression of high molecular weight cytokeratins and in up to 50% of cases alteration of EGFR gene is found, which creates potential for targeted therapy with tyrosin kinase inhibitors. Basic morphology derives from medullary carcinoma with sharp margin from adjacent parenchyma and presents archetype of BRCA1 mutated familial cancer. Existence of the rare noninvasive in situ phase of the basal-like carcinoma having similar phenotype enables both early and reliable diagnosis even from small core biopsy specimens. Correct diagnosis of this relentless tumor not only brings the chance for effective monitoring specific organs apt to potential metastasis but also challenges for implementation of alternative therapeutic approach, because standard protocols usually fail.

Objective: To describe rare hamartoma of the breast in a 31-year-old female., Design: Case report., Settings: Department of Special Diagnostics SPAU, Charles University Hospital Pilsen., Subject and Method: A 31-year-old female was examined for breast asymmetry. A huge tumor was revealed in right mammary gland using ultrasonography. Encapsulated tumor 10x10x10 cm was removed. Subsequent histological examination revealed breast hamartoma. The patient is alive and well without signs of disease one year after excision., Conclusion: Hamartoma of the breast is a rare benign tumor. Diagnostics is very complicated and it is almost impossible to establish correct diagnosis preoperatively. A simple excision is a sufficient treatment with good curative effect.

Objective: On the background of clinical, radiological and morphologic settings presented is unusual case of the rare angiomatosis of the female breast. Discussed are both clinicopathological aspects and differential diagnosis from the morphological point of view., Design: Case report., Setting: Biopsy Lab s.r.o. and Sikl's Department of Pathology, Charles University and Faculty Hospital, Pilsen., Methods: As a case report described is a rare case of the angiomatosis of the female breast. Implemented illustrations consist of local findings, CT scan, specimen gross appearance and histological pictures including immunohistochemistry. Applied antibodies and detection system LSAB+ were provided by Dako, visualization was performed by chromogen DAB (diaminobenzidin tetrahydrochlorid)., Results: 30-year-old woman suffering of painful, enormous breast asymmetry underwent core needle biopsy of the right breast. The mastogram showed diffuse process of ambiguous significance. During the next few days her condition dramatically changed and under the circumstances of florid apoplexy and suspicion of tumor of her right breast, total mastectomy was carried out. Histological picture revealed widespread, unlimited vascular lesion dissecting throughout the stroma of the entire gland. Bland morphology and the nature of tissue involvement eventually led to diagnosis of benign angiomatosis. The woman underwent several local plastic operations but is out of final reconstruction of her breast so far. Thirteen months after mastectomy there are no signs of recurrence.

Objective: Complex summary addressing current view of the intraductal papillary lesions of breast, especially focused on morphology, exact terminology and clinicopathological aspects of effective therapy., Design: Review article., Setting: Biopsy Lab s.r.o. and Sikl's Department of Pathology, Charles University and Faculty Hospital, Pilsen., Methods: Summarized recent data, diagnostic principals and clinicopathological recommendations of papillary breast lesions created comprehensive guide for daily diagnostic and therapeutic practice., Results: The group of papillary tumors of the breast includes various lesions with different biologic potential. They are all presenting as pure intraductal lesions, but in case of multiple peripheral distribution imply possible risk for aggressive behavior. The reason is frequent occurrence of atypical ductal hyperplasia/intraductal (in situ) carcinoma in the adjacent tissue. Spectrum of secondary changes further complicates the diagnosis of papillary tumors, especially in core needle biopsy. Atypical papilloma is still very controversial issue and it essentially means situation when atypical ductal hyperplasia/conventional ductal in situ carcinoma arises in preexisting papillomas or extends to it from neighborhood. Generally, papillary lesions are suitable for effective conservative treatment in the case of proper clear resection margin. Finding of benign papilloma in core biopsy remains unsolved question yet.

Objective: To describe personnel experience with three unusual cases of low-grade adenosquamous carcinoma of the breast. Due to the aggressive course in two cases, the review of the literature does not concentrate on morphology and differential diagnosis only, but discuss overall biology of this lesion too., Design: Three case reports., Setting: Biopsy Lab s.r.o. and Sikl's Department of Pathology, Charles University and Faculty Hospital, Pilsen., Methods: Included are cases from mammary register of Biopsy Lab s.r.o. and from personnel consulting registry of Prof. Michal. In details are documented both clinical presentations, including follow up, and spectrum of histologic patterns of the lesion. Immunohistochemistry performed by streptavidin-biotin system (LSAB+, Dako) as detection system and diaminobenzidin tetrahydrochlorid as chromogen, employed standard myoepitelial markers (actin, CD10, calponin and p63), hormonal receptors, oncogen Her-2/neu, CK7, CAM5.2, CD34 and CD117., Results: Partial mastectomy and segmentectomy were performed in three women 46, 72 and 74 years-old resp. for tumor, which size ranged from 20-35 mm in maximum diameter (mean 28 mm). Histology revealed low-grade adenosquamous metaplastic carcinoma displaying typical biphasic appearance combining regular tubular structures with surrounding storiform, sclerosing fibrous stroma. Variably present was characteristic squamous metaplasia of the gland forming either luminal morules or evident squamous pearls. Using immunohistochemistry, a total absence of myoepithelial layer in epithelial structures was confirmed. The stromal component expressed smooth muscle actin in two cases, one of which contained areas of heterologous chondrosseal differentiation. There were recognized metastases by one woman in two ipsilateral axillary lymph nodes mimicking benign breast heterotopia in one of them. One patient experienced recurrence in the scar 37 months after mastectomy where only mesenchymal heterologous component element was found. In two women with aggressive course the original biopsy was falsely interpreted, once as phyllodes tumor and secondly as benign sclerosing pseudotumor., Conclusion: low-grade adenosquamous carcinoma, despite its bland histology, should be understood as regular malignancy prone to frequent recurrences and recognized metastatic potential. It arises in the deep breast tissue and structurally resembles the microcystic adnexal carcinoma of the skin. Low-grade adenosquamous carcinoma, however, has nothing to do with syringomatous adenoma of the nipple, which is a benign tumor of the skin adnexa. Differential diagnosis includes spectrum of non-neoplastic slerosing lesions and above-mentioned phylloid tumor. The rarity of this neoplasm does not exclude deep knowledge.

Objective: To describe a poorly recognized histological and immunohistochemical features of cystic hypersecretory carcinoma of breast, including the overexpression of HER-2/neu protein and androgen receptors., Subject: Review of clinical and pathological features of 5 cases of cystic hypersecretory carcinoma., Setting: Private Bioptic Lab, Plzen and Department of Pathology, Charles University, Plzen., Subject and Methods: Five cases of rare variant of intraductal carcinoma of the breast, so-called cystic hypersecretory carcinoma, are reported. The patients were females aged between 53 and 78 years (average 66.8 years). The size of the lesions ranged between 7 and 8 cm in largest dimension., Results: In two cases, the development of high grade invasive ductal carcinoma was observed; in one additional case there was recurrence of high grade in situ carcinoma after three years. Strong overexpression of HER-2/neu protein was observed in three cases including those two with invasive component. Protein p53 was variably positive in all cases. Steroid receptor immunohistochemical study yielded variable results with only one case being positive for both estrogen and progesterone receptors. Interestingly, in most case (4/5) staining for androgen receptors was observed., Conclusion: The importance of correct diagnosis of this potentially aggressive lesion is emphasized. The differential diagnosis of breast lesions with predominantly cystic growth pattern is discussed in detail.

Objective: To describe personal experience with three heterogeneous cases of pseudomyxoma peritonei. Review of the literature concentrates on the pathogenesis and biologic spectrum of the rare syndrome., Design: Three case reports., Setting: Private Biopsy Lab s.r.o. and Sikl's Department of Pathology, Charles University and Faculty Hospital, Pilsen., Methods and Results: Included are cases from Biopsy Lab s.r.o. and from personal consulting registry of Prof. Michal, Sikl's Department of Pathology, Pilsen. Clinical presentation of three cases of pseudomyxoma peritonei documented is in details including long follow up. Broad variability of histologic appearance associated with different Clinical outcome is demonstrated. Immunohistochemistry performed by streptavidin-biotin system (LSAB+, Dako) as detection system, and diaminobenzidine tetrahydrochloride as chromogen, employed three monoclonal antibodies--MUC2 (Novocastra, 1:400), cytokeratin 7 (Dako, 1:200) and cytokeratin 20 (Dako, 1:100)., Conclusion: Pseudomyxoma peritonei is a clinical syndrome defined as presence of massive mucinous, viscous material in the peritoneal cavity, both floating and adhering to serosal surface (jelly-belly). The histologic examination should always follow with detailed and precise description of the epithelial component. The cytological and structural quality of the epithelium constitutes two basic forms with entirely different nature biology and prognosis. First and more frequent, so-called disseminated peritoneal adenomucinosis, where primary low grade (benign) mucinous appendiceal tumor is almost constant finding, often recurs but displays favorable prognosis. Second, so-called peritoneal mucinous carcinomatosis is an extraordinary manifestation of peritoneal carcinosis following generalization of the gastrointestinal mucinous adenocarcinoma. Histopathogenesis in both types is thought to arise from MUC2 positive goblet cells in GI and ovarian involvement is secondary. A normal macroscopic finding on appendix or "uneventful" appendectomy in anamnesis is not unusual.

Objective: To describe a rare case of mammary type sclerosing adenosis arising in anogenital, mammary-like adnexal glands. Differential diagnosis is discussed and detailed review of literature is presented., Design: Two case reports., Setting: Private Biopsy Lab s.r.o. and Sikl's Department of Pathology, Charles University and Faculty Hospital, Pilsen., Methods: Included are two cases from Breast Registry, Biopsy Lab s.r.o. and from personal consulting registry of Prof. Michal, Sikl's Department of Pathology, Pilsen. Detailed morphology of the lesion is described and documented by pictures. The presence of myoepithelial cell is demonstrated by immunohistochemistry using streptavidin-bioptin detection system (LSAB+, Dako) and three conventional myoepithelial markers (actin S, calponin and CD10). Expression of estrogen and progesteron receptors and apocrine antigen GCDFP-15 were studied too., Results: There were two women at the age of 54 and 60-years with lesion located on vulva and anus; the maximum tumor diameter was 7 and 10 mm, respectively. The histological picture was virtually the same in both cases displaying under hyperplastic epidermis small glands proliferation set in sclerotic fibrous stroma. In spite of relatively sharp circumscription, the chaotic and irregular distribution of the glands imparted the invasive image of the lesion. The luminal cells showed no cytological and nuclear atypia and visible was only minimal regular mitotic activity. The signs of luminal, decapitation-type, apocrine secretion were dispersal seen throughout the lesion. By immunohistochemistry the myoepithelial cells regularly and systematically decorated periphery of the glands and all the composition was similar to sclerosing adenosis in the breast including massive hormonal receptors expression. In the periphery of one lesion an insolated, single, typical anogenital gland was found. Features of conventional papillary hidradenoma were not seen., Conclusion: Mammary-type anogenital adnexal glands are regularly present in vulvar and perianal skin; these are considered there as a substrate for analogous lesion occurring in the breast (lactation change, papilloma and fibroadenoma, but also some types of carcinomas including primary extrammary Paget's disease). In these physiological structures there are combined features of both eccrine and apocrine adnexal glands creating a primitive caricature of basic tubulolobular unit in the breast. Their existence dispel historical dogma about running of the embryonal milk lines or mammary ridges and explains the findings of varied scale of neoplasms differing from well known lesion derived from conventional adnexal glands.

Objective: Presentation of variable morphology of the so-called matrix-producing carcinoma, the rare variant of metaplastic breast carcinoma. Establish the extent of myoepithelial phenotype by immunohistochemistry and assess behaviour of the lesion., Design: Review of clinicopathologic data of 11 cases., Setting: Private Biopsy Lab s.r.o., Pilsen and Sikl's Department of Pathology, Charles University and Faculty Hospital, Pilsen., Methods: Included are eleven cases from Breast Registry, Biopsy Lab s.r.o., Pilsen and Pathology Department, Faculty Hospital in Hradec Králové and Martin and from Biopsy Lab in Horovice. Analyzed were morphology, stage, grade and follow up. Myoepithelial phenotype was demonstrated immunohistochemically by LSAB+ system (DAKO) and seven conventional myoepithelial markers (GFAP, aktin S, calponin, cytokeratin 14, p63, CD10 and P-cadherin) were used. Oncogene p53 and Her2/neu were also detected., Results: Matrix-producing carcinoma is an extremely rare type of metaplastic carcinoma of the breast, where high-grade epithelial component continually merges with heterologous mesenchymal chondroid component without overt spindle cell sarcomatoid pattern in between. There were all women at the age of 32 to 86-years (average 54 years, median 52 years) and the maximum tumor diameter ranged from 18 to 60 mm (average 32 mm). The axillary LN was positive in six cases in the time of diagnosis. The follow up available in 9 women ranged from three months to ten years (average 24 months); dissemination of the disease was observed in three cases; 2 of these patients died of disease after three and ten years, respectively. The heterologous mesenchymal chondroid component was produced in two different ways; one displayed typical structure of low-grade hyaline cartilage, in the second one the epithelial tumorous cells were embedded in the homogenous eosinophilic extracellular matrix giving appearance of chondroid aura. Metaplastic component constituted 5-75% of the tumor volume. Immunohistochemical evidence of myoepithelial differentiation in all neoplasms was demonstrated, with at least two conventional myoepithelial markers (actin S, calponin, GFAP, CK14, CD10, p63 and P-cadherin) being positive in every case. Expression of p53 was identified in six cases, all tumors were Her2/neu negative. Histologically the metastases were formed either by carcinoma cells only, or more frequently, they replicated the structure of primary lesion., Conclusion: As a rare entity, matrix-producing carcinoma of breast displaying myoepithelial phenotype, deserves separate position in tumor classification. It differs from conventional myoepithelial carcinoma and from heterologous metaplastic carcinoma, where the matrix emanate from undifferentiated sarcomatous tissue, but precise histogenesis in not clear yet. This is a very aggressive lesion and our findings show that previous reports of indolent behaviour were preliminary. Spectrum of differential diagnosis, namely benign mixed tumor, phylloid tumor, primary breast sarcoma and colloid carcinoma warrant clear knowledge about this unique entity.

Presented are two cases of unusual adnexal tumor described under the term "female adnexal tumor of probable wolffian origin (FATWO)" in the bibliography. One lesion was 18 cm large tumor located in the ovary in 85-year-old woman, the second one was a 5 cm large pedunculated mass arising from broad ligament in 40-year-old female. Three main structural patterns often coexisted and comprised solid or diffuse, sieve-like and tubular arrangement of spindle or epithelial cells. Cellular atypia and mitotic figures were practically absent. Clinical follow up confirmed benign behavior in both cases. Discussed is differential diagnosis and review of the literature.