Ileal Schwannoma: A Rare Cause of Pelvic Mass.

The incidence of small bowel schwannomas is extremely low. In the current literature, we found just a few reported small intestine schwannomas that were located in the duodenum, jejunum, or ileum. This study reports a surprising finding of a relatively large size ileal schwannoma in a patient whose preoperative magnetic resonance imaging described a tumour in the lesser pelvis probably derived from the right adnexa. Pfannenstiel incision was made by the gynaecology team, which found a large mass lesion arising from the small intestine and occupying nearly the entire lesser pelvis. The general surgeon was invited, and pathology was successfully managed by segmental resection of the small bowel with primary end-to-end anastomosis. The histopathology study reported a submucosal tumour composed of S-100 protein-positive spindle cells, and the diagnosis of ileal schwannoma was made. The possibility of intestinal neoplasms, including schwannomas, might be contemplated in the differential diagnosis of any pelvic mass lesions. A detailed histology study and immunohistochemical stain are required for the final diagnosis of intestinal schwannomas and to rule out malignant changes, which are extremely important for the further management of patients. To the best knowledge, our case is one of the biggest intestinal schwannomas reported in the current literature.

Radar reflector guidance system in breast surgery: A single-institution feasibility study.

Mammography breast cancer screening programs and continuing improvements in early diagnosis of the disease have led to more frequent detection of nonpalpable breast lesions. The commonly used technique in guiding the surgical removal of these lesions is hook wire-guided localization (WGL). However, the WGL procedure has been criticized for the last years. Key disadvantages of WGL are possible wire transection, wire migration before or during surgery, patient discomfort and pneumothorax. Over the last decade, alternatives to wire localization have emerged. In this study the authors present their initial experience with a wireless, nonradioactive, wave reflection implant system that enables surgeons to safely and accurately remove breast lesions (Tab. 2, Fig. 4, Ref. 20). Keywords: breast cancer, breast surgery, nonpalpable lesions, preoperative localization.

Mammary myofibroblastoma: Presentation of case.

INTRODUCTION AND IMPORTANCE: Mammary myofibroblastoma (MFB) is a rare benign mesenchymal lesion. It belongs to the family of benign spindle cell tumours of the mammary stroma and may exhibit confusing variants. Some of them may mimic invasive tumours, leading to the diagnostic dilemmas, especially in core needle biopsy specimens or frozen sections. Familiarity with the characteristics of this tumour is of great importance for accurate diagnosis and proper treatment. CASE PRESENTATION: We report about a rare form of CD34-negative mixed epithelioid/lipomatous form of mammary myofibroblastoma in a 48-year-old Caucasian premenopausal woman with no previous medical history. Breast imaging suggested a benign lesion. The core needle biopsy suggested breast MFB. The definitive diagnosis was established through histopathology and immunohistochemistry of the lumpectomy specimen. CLINICAL DISCUSSION: Despite its rarity, breast MFB is a disease with a wide spectrum of histologic morphologies. CD34 positivity is seen in majority of MFB cases. MFBs uncommonly show absent expression of CD34, a potential diagnostic pitfall, just like in our case. CONCLUSION: Pathologists should recognise the wide range of differential diagnoses and be familiar with the diverse morphological appearances of these lesions to make an accurate diagnosis. Surgical excision is at present the ordinary treatment of MFB.

Carbonic Anhydrase IX in Tumor Tissue and Plasma of Breast Cancer Patients: Reliable Biomarker of Hypoxia and Prognosis.

Carbonic anhydrase IX (CA IX) is recognized as an excellent marker of hypoxia and an adverse prognostic factor in solid tumors, including breast cancer (BC). Clinical studies confirm that soluble CA IX (sCA IX), shed into body fluids, predicts the response to some therapeutics. However, CA IX is not included in clinical practice guidelines, possibly due to a lack of validated diagnostic tools. Here, we present two novel diagnostic tools-a monoclonal antibody for CA IX detection by immunohistochemistry and an ELISA kit for the detection of sCA IX in the plasma-validated on a cohort of 100 patients with early BC. We confirm that tissue CA IX positivity (24%) correlates with tumor grading, necrosis, negative hormone receptor status, and the TNBC molecular subtype. We show that antibody IV/18 can specifically detect all subcellular forms of CA IX. Our ELISA test provides 70% sensitivity and 90% specificity. Although we showed that this test could detect exosomes in addition to shed CA IX ectodomain, we could not demonstrate a clear association of sCA IX with prognosis. Our results indicate that the amount of sCA IX depends on subcellular CA IX localization, but more strictly on the molecular composition of individual molecular subtypes of BC, particularly on metalloproteinases inhibitor expression.

Trichinella spiralis (Owen, 1835) Induces Increased Dystrophin Expression in Invaded Cross-striated Muscle.

PURPOSE: Dystrophin and the dystrophin glycoprotein complex serve as a cytoskeletal integrator, critical for muscle membrane stability. The aim of the present study was to clarify the expression of dystrophin protein and mRNA in the skeletal muscle tissue during the muscle phase of trichinellosis in mice. METHODS: Muscle tissue was collected from mice experimentally infected with Trichinella spiralis at days 0, 14 and 40 after infection. The expression of dystrophin in the muscle tissue was investigated by immunohistochemistry with antibodies against three different domains of the protein, and the expression levels of Dys mRNA by real-time PCR. RESULTS: The presence of dystrophin protein was increased in the de-differentiating cytoplasm at the early stage of muscle infection and was persisting also in the mature Nurse cell harbouring the parasite. It was accompanied by significantly elevated expression of Dys mRNA at days 14 and 40 after infection. CONCLUSION: Our findings indicate that dystrophin plays a role in regeneration of the muscle and in the Nurse cell formation and stability for security of the parasite survival.

Intraoperative evaluation of metastases in sentinel nodes through one-step nucleic acid amplification: Initial experience in a single institution.

The objective of this study was to gain our initial experience in one-step nucleic acid amplification (OSNA) for detecting sentinel lymph node (SLN) metastasis as compared to standard pathological staging in patients with breast cancer. Fifteen patients with preoperatively confirmed early breast cancer eligible for breast­saving therapy and sentinel lymph node biopsy (SLNB) were enrolled in the study. Lymphatic mapping and SLNs detection were performed through the magnetic method. Excised SLNs were intraoperatively examined through OSNA and frozen­section methods. All lymph nodes were postoperatively examined through histopathology and immunohistochemistry. The results of latter methods were correlated. Our initial experience proved OSNA to be a sensitive and efficient alternative to intraoperative assessment of metastases in SLN in breast cancer patients. Moreover, the information obtained by the OSNA method provides the surgeon with the possibility of assessing a more accurate prognosis during the initial surgery (Tab. 3, Fig. 4, Ref. 36). Text in PDF www.elis.sk Keywords: breast cancer, metastases, surgery, sentinel nodes, OSNA.

Liver injury associated with the use of selective androgen receptor modulators and post-cycle therapy: Two case reports and literature review.

BACKGROUND: Muscle growth promoters are being developed for the treatment of disease-induced loss of muscle mass. Ligandrol and ostarine are selective androgen receptor modulators (SARMs) with a non-steroidal structure and a presumably more favorable side effect profile. In recent years, these substances with or without "post-cycle therapy" (PCT) are often misused by amateur athletes aiming to promote muscle growth. At the same time, reports on their toxic effects on organ systems are emerging. CASE SUMMARY: We report two cases of liver injury in young men who used ligandrol and/or ostarine for a few weeks followed by the use of substances for PCT. Acute liver injury occurred in both cases after stopping SARMs while on PCT. The clinical picture was dominated by jaundice and fatigue. The biochemical pattern showed a mixed type of injury with normal alkaline phosphatase and high concentrations of bilirubin and serum bile acids. Histological evidence showed predominantly cholestatic injury with canalicular bile plugs, ductopenia, and mild hepatocellular damage without significant fibrosis. The patients recovered from the condition after 3 mo. The off target effects of SARMs were likely idiosyncratic, but our report highlights the yet unrecognized effects of other toxic substances used for PCT, supra-therapeutic doses, and the complete absence of monitoring for adverse effects. CONCLUSION: Among muscle-building amateur athletes, SARMs (ligandrol or ostarine) and/or substances in PCT may cause cholestatic liver injury with prolonged recovery.

Localization of impalpable breast lesions and detection of sentinel lymph nodes through magnetic methods.

PURPOSE: The most commonly used technique for guiding the surgical removal of impalpable breast lesions is wire-guided localization (WGL). Potential complications of WGL include wire migration, wire transection, patient discomfort, and pneumothorax. Recently, another possibility for preoperative localization of breast lesions trough small steel seeds was developed. A magnetic handheld probe can be used both for localization of breast lesions and sentinel lymph nodes (SLNs) detection. METHODS: In this study, we used a new technology for localizing breast lesions in conjunction with sentinel nodes (SLNs) detection through SPIO nanoparticles; both detected using a magnetic probe. The technique uses small steel markers (Magseed®) with magnetic properties, which are placed in breasts under ultrasonographic or mammographic guidance. 41 localization seeds were placed in 38 patients. In 27 patients with malignant tumors, simultaneous use of magnetic method for SLNs detection was used. RESULTS: In all 38 patients, breast lesions were accurately localized using this method. No interference between Magseed signals and SPIO tracer signals were observed during magnetic probe measurements. All tumors were exscised with tumor-free surgical margins. The SLN biopsy was successful in all patients undergoing this procedure. The SLN median detection rate was 3 nodes. CONCLUSIONS: The new magnetic methods are reliable alternatives for localizing breast lesions and SLN detection. They are well tolerated by patients and they can avoid the disadvantages of WGL. They have the potential to make tumor localization and SLN biopsy procedures possible in facilities without a nuclear medicine department or where radioisotope availability is limited.

Secretory carcinoma of the breast: A case report.

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 post­surgery and remains disease­free. 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.

Simultaneous use of magnetic method in localization of impalpable breast cancer and sentinel lymph nodes detection: initial experience.

AIM: In this study we used a new technology for localization of non-palpable breast tumors using a small steel marker in conjunction of sentinel nodes (SLNs) detection through injection of SPIO nanoparticles; both detected through a magnetic probe. Materials & methods: Ten patients with biopsy-proven nonpalpable invasive breast carcinoma or premalignant lesions eligible for SLNs biopsy were enrolled in this study. RESULTS: All tumors were removed with safe surgical margins. The mean nodal detection rate was 3.4 nodes per patient. No interferences in magnetic probe measurements due to the presence of both markers in the same breast were observed. CONCLUSION: Simultaneous use of the magnetic method in localization of impalpable breast tumors and SNs detection makes breast surgery convenient.

Pseudomalignant myositis ossificans in the breast: A case report.

Myositis ossificans (MO) is characterized by abnormal heterotopic ossification formation, typically involving muscles, tendons, ligaments, fascia, and aponeurosis. It can be categorized into nonhereditary and hereditary types, with the latter being a distinct entity with a separate pathophysiology and treatment approach. The pathophysiology of MO formation remains to be fully elucidated. MO is most commonly observed in muscle tissue as a solitary lesion. The disease has been reported to occur in all ages, including the very young and in atypical locations, including hands, feet, ribs, head and neck. The present case report describes an unusual pseudomalignant form of MO in the breast. The authors discuss the clinical and morphological characteristics of the tumor and its treatment options.

Granular cell tumor in axillary region: A rare entity.

A granular cell tumor (GCT), is a rare soft tissue tumor which may occur throughout the body, usually in the head and neck, skin or subcutaneous tissues of the trunk and upper extremities, and female genital region. A total of 5-8% of all cases of GCTs occur in the breast. GCT of the breast may mimic breast cancer both clinically and radiologically. GCTs are usually benign and solitary; however, approximately 2% occur as malignant tumors. Benign GCTs are treated with wide local excision and are associated with a good prognosis. The current case report presents findings in a patient with a benign form of GCT in a rare location, specifically in the axillary region.

[A Bizarre Parosteal Osteochondromatous Proliferation - Case Report and Review of Similar Hand Lesions Recorded Since 1983].

Bizarre parosteal osteochondromatous proliferation (BPOP) is an unusual lesion mostly affecting the bones of the hand. The mass grows from the bone surface and consists of cartilaginous, osseous and fibrous tissue. The lesion is commonly under/misdiagnosed and confused with other lesions, mostly the osteochondromas. We present a patient with BPOP that initially confused the practitioner and radiologist in their diagnosis. We discuss the clinical, radiologic and histologic characteristics of BPOP of the hand since its first report in 1983 and present its main differential diagnosis. We reviewed 184 cases. Female were affected in 52% and male in 48%. Pro ximal phalanges were most commonly affected, followed by middle phalanges and metacarpals. Pain was reported in 47,9 % of all reported papers. The most common surgical treatment was by excision, and the rate of recurrence was 47.3%.

Desmoid-type fibromatosis of the breast: A report of 2 cases.

Mammary fibromatosis is a rare and locally aggressive benign tumor of the breast; it originates from fibroblasts and myofibroblasts within the breast parenchyma and does not metastasize. The condition is locally aggressive and has a high rate of recurrence. The etiology of mammary fibromatosis is unknown. Breast imaging examinations are not specific for fibromatosis and often imitate breast cancer. The current study presents 2 cases of women with breast fibromatosis, the first of which exhibited a locally advanced aggressive form of the disease, where breast surgery and en bloc resection of the underlying regions of the thoracic wall were required. In the second case, breast imaging examinations suggested an invasive breast tumor, probably carcinoma, infiltrating the muscles of the chest wall. An ultrasound-guided core needle biopsy revealed a low-grade myofibroblastic proliferation consistent with breast fibromatosis. The patient underwent a right quadrantectomy, with a partial resection of the underlying musculature. The patients remain disease-free at the time of writing. As involvement of the breast in patients with desmoid-like fibromatosis as rare, the present study reports 2 cases with clinical features and histological findings in order to improve and add to the knowledge of this disease.

Dermatofibrosarcoma protuberans of the breast: A case report.

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.

[Diffuse tenosynovial giant cell tumor of the cervical spine destroying vertebra C6 - a case report]. / Difúzní obrovskobunecný tumor slachových pochev krcní pátere s destrukcí obratle C6 - kazuistika.

Presented is a case of 59-year-old woman with longstanding neck pain who has been promptly operated for spinal cord compression. Imaging studies disclosed ill-defined cervical paravertebral soft tissue mass at the level of vertebra C5/6 abutting left-sided intervertebral joint and destroying neighboring both vertebral arch and processus spinosus. Submitted specimen was interpreted as a possible metastatic skeletal process by clinicians and referring pathologist favored diagnosis of giant cell tumor/osteoclastoma of the bone. Microscopic features were consistent with giant cell lesion where uniform mononuclear mosaic stromal component dominated the unevenly distributed loose clusters of osteoclast-like giant cells frequently imparting appearance of peculiar pseudoalveolar spaces. Additionally, alternating geographic xanthomatous and densely hyalinized/ osteoid-like zones with speckled, coarsely granular haemosiderin pigment completed the variegated structural composition. The tumor infiltrated adjacent striated muscles; either original bone structures and/or extracellular matrix deposits were not identified. Immunohistochemical stains with p63, SATB2, desmin, EMA, clusterin and S100protein turned out to be completely negative. FISH analysis revealed no rearrangement of CSF1 gene. The diagnosis of the diffuse tenosynovial giant cell tumor was rendered.

High-Grade Neuroendocrine Carcinoma of the Breast With Focal Squamous Differentiation.

Primary neuroendocrine carcinoma of the breast is a rare tumor that comprises less than 1% of breast carcinomas, with most patients being in the sixth or seventh decade of their life. In this article, the authors present the case report of a 42-year-old woman with a rapidly growing tumor in her right breast. After clinical staging by physical examination, breast imaging, and thoracoabdominal computed tomography the patient underwent breast-conserving surgery. The histologic results showed a unique type of high-grade, predominantly large-cell neuroendocrine carcinoma with focal abrupt squamous differentiation. The authors also discuss the clinical and morphological characteristics of the tumor as well as treatment options.

[Periosteal osteosarcoma - personal experience with five cases]. / Periostální osteosarkom - osobní zkusenost s peti prípady.

The authors present five cases of periosteal osteosarcoma located in the femur (4) and tibia (1) in children and young adults (1 female and 4 males) with an age range of 9 - 23 years (mean age 15 years). Radiographs in all cases showed a broad-based soft tissue mass attached to the cortex with periosteal reaction and in two of them cortical disruption with extensive medullary involvement. Follow-ups were available in four cases (range 11 - 73 months) and revealed pelvic metastasis after 15 months with ultimately rapid dissemination and death in a 9-year-old girl and metastasis to the humerus after 13 months in a 15-year-old boy. The former tumor widely extended into the medullary cavity and an amputation was carried out, the latter had a pure juxtacortical position and an en block resection was performed; both of them were treated with chemotherapy. All the lesions displayed distinctive structural patterns combining a large island of tumorous cartilage and hypocellular, bland-looking myxoid mesenchymal stroma with abrupt transition between both components. Contrary to conventional osteosarcoma, the delicate flocculent osteoid deposits were produced by innocuous stromal cells lacking apparent atypia. They were strictly situated outside the prevailing chondroid areas and disclosed sometimes only after a meticulous search. Immunohistochemical detection of SATB2, S100protein and D2-40 assisted effectively not only in recognition of the real stromal histogenetic derivation, but also in distinction of true differentiation of a heavily mineralized extracellular matrix. Molecular analysis revealed no IDH1/2 mutation in four examined cases. Regardless of unique low-grade morphology in rare periosteal osteosarcoma, an aggressive therapeutical approach similar to conventional osteosarcoma is justified, particularly in the case of a medullary extension.

[Small cell type (Ewing-like) clear cell sarcoma of soft parts: a case report]. / Malobunecná varianta svetlobunecného sarkomu mekkých tkání napodobující Ewinguv sarkom - kazuistika.

The authors present a unique case of small cell variant of clear cell sarcoma of soft parts in a 42-year old woman. The tumor originally arose in the right flank of the soft tissues and ultimately developed both a local recurrence and multiple distant skin metastases two years and ten months thereafter. Nonspecific morphology of small blue round cell tumor was preserved at all microscopically verified sites and initially led to the spectrum of erroneous diagnoses such as an extraskeletal myxoid chondrosarcoma, Ewing sarcoma as well as malignant melanoma. The distinctive features of clear cell sarcoma such as fascicular nested growth pattern, spindling, clear cell change and/or eosinophilic cytoplasm were not disclosed even by extensive sampling. Immunohistochemically, the tumor expressed only S100protein and HMB45; all other markers (CD99, FLI1, cytokeratins, EMA) were completely negative. The molecular analysis carried out in one of the cutaneous metastases revealed translocation t(12;22) (EWSR1-ATF1) and ultimately led to the correct diagnosis of unusual Ewing-like clear cell sarcoma. Discussed is the implementation of molecular tests in routine diagnostics considering the existence of both histologically and biologically different tumors with an identical pathogenic molecular background.

Noninvasive scoring algorithm to identify significant liver fibrosis among treatment-naive chronic hepatitis C patients.

AIMS: Staging for liver fibrosis is recommended in the management of hepatitis C as an argument for treatment priority. Our aim was to construct a noninvasive algorithm to predict the significant liver fibrosis (SLF) using common biochemical markers and compare it with some existing models. METHODS: The study group included 104 consecutive cases; SLF was defined as Ishak fibrosis stage greater than 2. The patient population was assigned randomly to the training and the validation groups of 52 cases each. The training group was used to construct the algorithm from parameters with the best predictive value. Each parameter was assigned a score that was added to the noninvasive fibrosis score (NFS). The accuracy of NFS in predicting SLF was tested in the validation group and compared with APRI, FIB4, and Forns models. RESULTS: Our algorithm used age, alkaline phosphatase, ferritin, APRI, α2 macroglobulin, and insulin and the NFS ranged from -4 to 5. The probability of SLF was 2.6 versus 77.1% in NFS<0 and NFS>0, leaving NFS=0 in a gray zone (29.8% of cases). The area under the receiver operating curve was 0.895 and 0.886, with a specificity, sensitivity, and diagnostic accuracy of 85.1, 92.3, and 87.5% versus 77.8, 100, and 87.9% for the training and the validation group. In comparison, the area under the receiver operating curve for APRI=0.810, FIB4=0.781, and Forns=0.703 with a diagnostic accuracy of 83.9, 72.3, and 62% and gray zone cases in 46.15, 37.5, and 44.2%. CONCLUSION: We devised an algorithm to calculate the NFS to predict SLF with good accuracy, fewer cases in the gray zone, and a straightforward clinical interpretation. NFS could be used for the initial evaluation of the treatment priority.