Multifocal cytokeratin expression in a dedifferentiated solitary fibrous tumor with heterologous rhabdomyosarcomatous differentiation : a challenging diagnosis!

We report the case of a dedifferentiated solitary fibrous tumor with heterologous rhabdomyosarcomatous differentiation in a 74-year-old male presenting with a rapidly growing, large soft tissue tumoral mass in the gluteal muscles of the right hip. Dedifferentiation in solitary fibrous tumor had not been recognized until very recently and is an extremely rare phenomenon in this tumor type. In the present case, the diagnosis of dedifferentiated solitary fibrous tumor was difficult because of the absence of areas of conventional solitary fibrous tumor with a predominantly poorly differentiated, anaplastic tumor component in the incision biopsy composed of heterogeneous areas with small blue round cell (Ewing sarcoma-like), rhabdoid, epithelioid, and pleomorphic morphology. Moreover, the unforeseen strong patchy to multifocal positivity for cytokeratin AE1/AE3 and desmin made the diagnosis of a dedifferentiated solitary fibrous tumor even more challenging in this case. The morphology (presence of branching thin-walled, hemangiopericytoma-like blood vessels) and the immunohistochemical profile (including STAT6 and GRIA2 positivity) were very useful to differentiate this very challenging case of a cytokeratin-positive dedifferentiated solitary fibrous tumor with heterologous rhabdomyosarcomatous differentiation from a broad list of differential diagnoses

The rapidly expanding group of RB1-deleted soft tissue tumors : an updated review

The classification of soft tissue tumors has evolved considerably in the last decade, largely due to advances in understanding the pathogenetic basis of many of these, sometimes rare, tumors. Deletion of Retinoblastoma 1 (RB1), a well-known tumor suppressor gene, has been implicated in the tumorigenesis of a particular group of soft tissue neoplasms. This group of so-called "RB1-deleted soft tissue tumors" has been rapidly expanding in recent years, currently consisting of spindle cell/pleomorphic lipoma, atypical spindle cell/pleomorphic lipomatous tumor, pleomorphic liposarcoma, myofibroblastoma, cellular angiofibroma, and acral fibromyxoma. Most of these neoplasms, except pleomorphic liposarcoma, are considered benign entities and are mainly described in the older adult population. This article will review the currently known morphological, immunohistochemical, and molecular features of this heterogeneous group of mesenchymal tumors with an emphasis on differential diagnosis

Mesonephric-like adenocarcinoma of the endometrium : diagnostic advances to spot this wolf in sheep's clothing : a review of the literature

Mesonephric-like adenocarcinoma is a recently described rare neoplasm occurring in the uterine corpus and ovary. This under-recognized subtype of carcinoma can be very challenging to diagnose. In mesonephric adenocarcinoma a variety of growth patterns can be present within the same tumor, as a result of which they can be misinterpreted and diagnosed as low-grade endometrioid adenocarcinoma, clear cell carcinoma, or even serous carcinoma and carcinosarcoma. We report a case of mesonephric-like adenocarcinoma misdiagnosed as a low-grade endometrioid endometrial adenocarcinoma that had an early local recurrence and metastasized to the liver and the lungs. Histopathological, immunohistochemical and molecular analysis were performed and compared to published literature, providing a comprehensive overview of the current knowledge. Databases (Pubmed, Web of Science, Google Scholar) were searched with a combination of the following search terms: mesonephric-like, mesonephric, adenocarcinoma, carcinoma, uterine body, uterine corpus, endometrium. Mesonephric-like adenocarcinoma is a difficult-to-diagnose entity. Advanced diagnostics, including improved morphologic, immunohistochemical and molecular knowledge can help develop new therapeutic strategies against this specific subtype of endometrial cancer with an aggressive clinical behavior

Endovenous laser ablation: the role of intraluminal blood

AbstractObjectiveIn this histological study, the role of the intraluminal blood during endovenous laser ablation was assessed.MethodsIn 12 goats, 24 lateral saphenous veins were treated with a 1500-nm diode laser. Four goats were treated in an anti-Trendelenburg position (group 1). The next four goats were treated in a Trendelenburg position (group 2) and the remaining four goats in the Trendelenburg position with additional injection of tumescent liquid (group 3). Postoperatively, the veins were removed after 1 week and sent for histological examination. We measured the number of perforations. Vein wall necrosis and the perivenous tissue destruction were quantified using a graded scale.ResultsThe ‘calculated total vein wall destruction’ was significantly higher in the third group (81.83%), as compared with groups one (61.25%) (p < 0.001) and two (65.92%) (p < 0.001). All three groups showed a significant difference in the perivenous tissue destruction scale (p < 0.001) with the lowest score occurring in the third group. Vein wall perforations were significantly more frequent in groups one and two as compared with the third group (T-test respectively p < 0.001, p = 0.02).ConclusionA higher intraluminal blood volume results in reduced total vein wall destruction. Injection of tumescent liquid prevents the perivenous tissue destruction and minimises the number of perforations

Primary intestinal aspergillosis resulting in acute intestinal volvulus after autologous stem cell transplantation in a patient with relapsed non-Hodgkin lymphoma : report on a rare infectious complication and a review of the literature

Objectives: Since primary intestinal aspergillosis is a severe infectious complication with a high morbidity and mortality in immunocompromised patients, we want to draw attention to this rare entity and the importance of early recognition. Methods: We report a case of documented primary intestinal aspergillosis in a patient receiving an autologous stem cell transplantation (SCT). Furthermore, this article gives a short reflection on the occurrence of invasive aspergillosis in autologous SCT and the value of serum galactomannan levels based on literature search and linked with the case. Results: In this case the patient presented on day +8 after autologous SCT for a relapsed diffuse large B-cell lymphoma with an acute abdomen with urgent need for surgical intervention. Biopsy revealed the presence of fungal colonies due to aspergillosis and voriconazole was started. Until that day the systematically taken serum galactomannan tests were all negative or pending. Initially there was some resistance to perform surgery in the presence of neutropenia and thrombocytopenia but in the end it provided the definitive diagnosis and should not be delayed. Until now this patient is in good health and retains a complete remission. Conclusion: With this case, we would like to emphasize that early recognition of primary intestinal aspergillosis is of the utmost importance as it is a rare but serious infectious complication. It should be included in the differential diagnosis of neutropenic patients with sudden onset abdominal pain and ongoing fever, even in the absence of a positive serum galactomannan

Foci of segmentally contracted sarcomeres in trapezius muscle biopsy specimens in myalgic and nonmyalgic human subjects : preliminary results

Objective The myofascial trigger point hypothesis postulates that there are small foci of contracted sarcomeres in resting skeletal muscle. Only one example, in canine muscle, has been published previously. This study evaluated human muscle biopsies for foci of contracted sarcomeres. Setting The Departments of Rehabilitation Sciences and Physiotherapy at Ghent University, Ghent, Belgium. Subjects Biopsies from 28 women with or without trapezius myalgia were evaluated, 14 in each group. Methods Muscle biopsies were obtained from regions of taut bands in the trapezius muscle and processed for light and electron microscopy and for histochemical analysis. Examination of the biopsies was blinded as to group. Results A small number of foci of segmentally contracted sarcomeres were identified. One fusiform segmental locus involved the entire muscle fiber in tissue from a myalgic subject. Several transition zones from normal to contracted sarcomeres were found in both myalgic and nonmyalgic subjects. The distance between Z-lines in contracted sarcomeres was about 25–45% of the same distance in normal sarcomeres. Z-lines were disrupted and smeared in the contracted sarcomeres. Conclusions A small number of foci of segmentally contracted sarcomeres were found in relaxed trapezius muscle in human subjects, a confirmation of the only other example of spontaneous segmental contraction of sarcomeres (in a canine muscle specimen), consistent with the hypothesis of trigger point formation and with the presence of trigger point end plate noise

WisecondorX : improved copy number detection for routine shallow whole-genome sequencing

Shallow whole-genome sequencing to infer copy number alterations (CNAs) in the human genome is rapidly becoming the method par excellence for routine diagnostic use. Numerous tools exist to deduce aberrations from massive parallel sequencing data, yet most are optimized for research and often fail to redeem paramount needs in a clinical setting. Optimally, a read depth-based analytical software should be able to deal with single-end and low-coverage datathis to make sequencing costs feasible. Other important factors include runtime, applicability to a variety of analyses and overall performance. We compared the most important aspect, being normalization, across six different CNA tools, selected for their assumed ability to satisfy the latter needs. In conclusion, WISECONDOR, which uses a within-sample normalization technique, undoubtedly produced the best results concerning variance, distributional assumptions and basic ability to detect true variations. Nonetheless, as is the case with every tool, WISECONDOR has limitations, which arise through its exclusiveness for non-invasive prenatal testing. Therefore, this work presents WisecondorX in addition, an improved WISECONDOR that enables its use for varying types of applications. WisecondorX is freely available at https://github.com/CenterForMedicalGeneticsGhent/WisecondorX

Cost-effective and robust genotyping using double-mismatch allele-specific quantitative PCR

For a wide range of diseases, SNPs in the genome are the underlying mechanism of dysfunction. Therefore, targeted detection of these variations is of high importance for early diagnosis and (familial) screenings. While allele-specific PCR has been around for many years, its adoption for SNP genotyping or somatic mutation detection has been hampered by its low discriminating power and high costs. To tackle this, we developed a cost-effective qPCR based method, able to detect SNPs in a robust and specific manner. This study describes how to combine the basic principles of allele-specific PCR (the combination of a wild type and variant primer) with the straightforward readout of DNA-binding dye based qPCR technology. To enhance the robustness and discriminating power, an artificial mismatch in the allele-specific primer was introduced. The resulting method, called double-mismatch allele-specific qPCR (DMAS-qPCR), was successfully validated using 12 SNPs and 15 clinically relevant somatic mutations on 48 cancer cell lines. It is easy to use, does not require labeled probes and is characterized by high analytical sensitivity and specificity. DMAS-qPCR comes with a complimentary online assay design tool, available for the whole scientific community, enabling researchers to design custom assays and implement those as a diagnostic test