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GLI1 fusions involving ACTB, MALAT1, PTCH1 and FOXO4 genes have been reported in a subset of malignant mesenchymal tumors with a characteristic nested epithelioid morphology and frequent S100 positivity. Typically, these multilobulated tumors consist of uniform epithelioid cells with bland nuclei and are organized into distinct nests and cords with conspicuously rich vasculature. We herein expand earlier findings by reporting a case of a 34-year-old female with an epithelioid mesenchymal tumor of the palate. The neoplastic cells stained positive for S100 protein and D2-40, whereas multiple other markers were negative. Genetic alterations were investigated by targeted RNA sequencing, and a PTCH1-GLI1 fusion was detected. Epithelioid mesenchymal tumors harboring a PTCH1-GLI1 fusion are vanishingly rare with only three cases reported so far. Due to the unique location in the mucosa of the soft palate adjacent to minor salivary glands, multilobulated growth, nested epithelioid morphology, focal clearing of the cytoplasm, and immunopositivity for S100 protein and D2-40, the differential diagnoses include primary salivary gland epithelial tumors, in particular myoepithelioma and myoepithelial carcinoma. Another differential diagnostic possibility is the ectomesenchymal chondromyxoid tumor. Useful diagnostic clues for tumors with a GLI1 rearrangement include a rich vascular network between the nests of neoplastic cells, tumor tissue bulging into vascular spaces, and absence of SOX10, GFAP and cytokeratin immunopositivity. Identifying areas with features of GLI1-rearranged tumors should trigger subsequent molecular confirmation. This is important for appropriate treatment measures as PTCH1-GLI1 positive mesenchymal epithelioid neoplasms have a propensity for locoregional lymph node and distant lung metastases., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

The knowledge of clinical features and, particularly, histopathological spectrum of EWSR1-PATZ1-rearranged spindle and round cell sarcomas (EPS) remains limited. For this reason, we report the largest clinicopathological study of EPS to date. Nine cases were collected, consisting of four males and five females ranging in age from 10 to 81 years (average: 49 years). Five tumors occurred in abdominal wall soft tissues, three in the thorax, and one in the back of the neck. Tumor sizes ranged from 2.5 to 18 cm (average 6.6 cm). Five patients had follow-up with an average of 38 months (range: 18-60 months). Two patients had no recurrence or metastasis 19 months after diagnosis. Four patients developed multifocal pleural or pulmonary metastasis and were treated variably by surgery, radiotherapy, and chemotherapy. The latter seemed to have little to no clinical benefit. One of the four patients was free of disease 60 months after diagnosis, two patients were alive with disease at 18 and 60 months, respectively. Morphologically, low, intermediate, and high-grade sarcomas composed of a variable mixture of spindled, ovoid, epithelioid, and round cells were seen. The architectural and stromal features also varied, resulting in a broad morphologic spectrum. Immunohistochemically, the following markers were most consistently expressed: S100-protein (7/9 cases), GFAP (7/8), MyoD1 (8/9), Pax-7 (4/5), desmin (7/9), and AE1/3 (4/9). By next-generation sequencing, all cases revealed EWSR1-PATZ1 gene fusion. In addition, 3/6 cases tested harbored CDKN2A deletion, while CDKN2B deletion and TP53 mutation were detected in one case each. Our findings confirm that EPS is a clinicopathologic entity, albeit with a broad morphologic spectrum. The uneventful outcome in some of our cases indicates that a subset of EPS might follow a more indolent clinical course than previously appreciated. Additional studies are needed to validate whether any morphological and/or molecular attributes have a prognostic impact.

Introduction: Secretory breast carcinoma (SBC) is a rare breast tumor which accounts for < 0.15% of all breast cancers. It was originally described as a juvenile breast carcinoma, occurring in young children and adolescent women. SBC is associated with a characteristic balanced translocation, t(12;15), that creates aETV6-NTRK3 gene fusion., Presentation of Case: A 52-year-old Caucasian woman had palpable lump in her right breast. After breast imaging examination (BI-RADS 4b) and preoperative core-needle biopsy with suspicion of SBC a breast conserving therapy was performed. The diagnosis of SBC was confirmed through immunohistochemistry and cytogenetic examination of the tumor. The patient is now 22 months post‑surgery and remains disease‑free., Discussion: Recent studies reported that the disease occurs at a later age than previously recognized, and is associated with good long-term survival. In breast imaging it may mimic a benign tumor. Immunohistochemistry and cytogenetic analysis of the tumor are crucial for confirmation of SBC., Conclusion: There is no consensus with regard to the best treatment strategy for patients with SBC. Breast conserving therapy with sentinel lymph nodes biopsy is at present the first choice treatment. Further research for a specific NTRK3 tyrosine kinase inhibitor could lead to the discovery of a new targeted treatment of this tumor., (Copyright © 2019 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Dermatofibrosarcoma protuberans (DFSP) is a rare malignant tumor of subcutaneous tissue characterized by slow infiltrative growth. The tumor occurs in patients of all ages, with the highest frequency occurring between the second and the fifth decades of age. Genetically, DFSP is characterized by a reciprocal translocation t(17;22)(q22;q13), or more often, as a supernumerary ring chromosome involving chromosomes 17 and 22. Standard treatment of a localized tumor is surgical excision with wide margins. In the present study, a case report of a 43-year-old woman with a growing tumor in the left breast is discussed. The patient underwent breast-conserving surgery. Histological and cytogenetic examinations of the tumor resulted in a diagnosis of DFSP. The clinical and morphological characteristics of the tumor, in addition to the treatment options, were also evaluated.

Sebaceous carcinoma of the breast is an exceedingly rare neoplasm. Little is known about the behavior and prognosis of this type of breast cancer. We report clinical, histological and immunohistochemical features of four cases of breast carcinoma with prominent (at least 50%) sebaceous differentiation. The tumors occurred in four women, aged 25-66, and were composed of cords, lobules and solid sheets of tumor cells with sebaceous differentiation, comprising 50-90% of the tumor mass. The second component consisted of cells with non-vacuolated cytoplasm, present mostly around the periphery of the lobules, or which formed separate tumor sheets with no evidence of sebaceous differentiation and were indistinguishable from a classical ductal carcinoma. Immunohistochemically, three tumors expressed hormone receptors; all cases were HER2-negative and had retained expression of the DNA mismatch repair proteins. Three patients had axillary lymph node metastases, and two patients had distant metastases: one in the liver, lung and bones, and one in the mediastinal and supraclavicular lymph nodes. One patient died 28 months after diagnosis, indicating that mammary sebaceous carcinoma is a potentially aggressive neoplasm. In contrast to extraocular cutaneous sebaceous carcinomas, mammary sebaceous carcinoma is probably unrelated to Muir-Torre syndrome. It should be differentiated from morphologically similar but biologically distinct lipid-rich carcinoma.

Autoimmune pancreatitis (AIP) type 1 is commonly associated with simultaneous involvement of extrapancreatic organs. Sclerosing cholangitis, sialadenitis, retroperitoneal fibrosis, Sjögren syndrome, and other extrapancreatic lesions are often observed concurrently with AIP. High levels of immunoglobulin G4 (IgG4) in the blood serum and affected tissues are typical of this diagnostic entity. We describe a case report of a 58-year-old female with findings of AIP (according to Asian criteria), IgG4-positive mastitis, and histologically verified Mikulicz syndrome. The effect of corticoid therapy supported the diagnosis of AIP and simultaneously led to the eradication of recurrent mastitis. To the best of our knowledge, this is the first reported case of concurrent findings of AIP and IgG4 mastitis. Our case report supports the concept of systemic IgG4 syndrome with multisystem involvement. Timely diagnosis and appropriate therapy can be effective in a high percentage of patients.

Backgrounds: The cancerogenic effect of ionizing radiation was documented just several years after it started to be used as a treatment option. Ionizing radiation produces a small but detectable risk of carcinoma as well as bone and soft tissue sarcomas. Over the past 20 years angiosarcomas arising from the area of the irradiated breast have been reported with increasing frequency as the number of women undergoing the breast conserving surgery with consecutive radiotherapy has increased also. Angiosarcomas can originate from either lymphatic or capillary endothelium, namely lymphangiosarcomas and haemangiosarcomas. The most of haemangiosarcomas arising from the breast skin developed in the irradiated area after breast conserving procedure--secondary angiosarcomas. Lymphangiosarcoma is typically associated with longstanding extremity lymphedema--Stewart-Treves syndrome., Cases: We report three cases of angiosarcomas which occured in this region after breast conserving treatment and we also review the literature., Conclusion: Paradoxically, the decrease in the use of radiotherapy to the post-mastectomy chest wall and the axillary area is expected to reduce the incidence of angiosarcomas, while the increase in the use of breast conserving procedure plus radiotherapy could lead to increased incidence of angiosarcomas in the residual breast tissue. Special attention should be paid to skin leasions and changes occuring after breast conserving treatment and especially to the ones with the skinthickening. The early detection and diagnosis has the crucial prognostic value.

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.