Liposarcomas of the paratesticular tissue is a rare pathological entity. The symptoms are similar to inguinal hernias or hydroceles. We present the case of an 84-year-old man with a rare paratesticular liposarcoma that manifested as painless right hemiscrotal swelling. Testicular tumour markers were negative. Imaging revealed a heterogeneous mass with a fat component. He underwent a radical orchiectomy on the left side to remove the associated mass. This revealed dedifferentiated liposarcoma (DDLS) with rhabdomyoblastic differentiation and MDM2 amplification. The surgical margins were negative, and the patient had a metastatic workup that included magnetic resonance imaging (MRI) of the abdomen and pelvis. Because of the disease's rarity, there is no clear agreement on radiotherapy and chemotherapy roles.

• Klíčová slova
• Dedifferentiated, Liposarcoma, Paratesticular, Rhabdomyoblasts,
• MeSH
• lidé MeSH
• liposarkom * diagnóza   chirurgie   patologie   MeSH
• nádory mužských pohlavních orgánů * chirurgie   MeSH
• orchiektomie MeSH
• senioři nad 80 let MeSH
• testikulární nádory * diagnóza   chirurgie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• přehledy MeSH

Lipoblastoma-like tumor (LLT) is a benign soft tissue tumor demonstrating mixed morphologic features of lipoblastoma, myxoid liposarcoma, and spindle cell lipoma but lacking genetic alterations associated with those tumors. LLT was originally thought to be specific to the vulva but has since been reported in the paratesticular region. The morphologic features of LLT overlap with those of "fibrosarcoma-like lipomatous neoplasm" (FLLN), a rare, indolent adipocytic neoplasm considered by some to form part of the spectrum of atypical spindle cell and pleomorphic lipomatous tumor. We compared the morphologic, immunohistochemical, and genetic features of 23 tumors previously classified as LLT (n = 17) and FLLN (n = 6). The 23 tumors occurred in 13 women and 10 men (mean age, 42 years; range, 17 to 80 years). Eighteen (78%) cases arose in the inguinogenital region, whereas 5 tumors (22%) involved noninguinogenital soft tissue, including the flank (n = 1), shoulder (n = 1), foot (n = 1), forearm (n = 1), and chest wall (n = 1). Microscopically, the tumors were lobulated and septated, with variably collagenized fibromyxoid stroma, prominent thin-walled vessels, scattered univacuolated or bivacuolated lipoblasts, and a minor component of mature adipose tissue. Using immunohistochemistry, 5 tumors (42%) showed complete RB1 loss, with partial loss in 7 cases (58%). RNA sequencing, chromosomal microarray, and DNA next-generation sequencing study results were negative for significant alterations. There were no clinical, morphologic, immunohistochemical, or molecular genetic differences between cases previously classified as LLT or FLLN. Clinical follow-up (11 patients [48%]; range, 2-276 months; mean, 48.2 months) showed all patients were alive without disease, and only one patient had experienced a single local recurrence. We conclude that LLT and FLLN represent the same entity, for which "LLT" seems most appropriate. LLT may occur in either sex and any superficial soft tissue location. Careful morphologic study and appropriate ancillary testing should allow for the distinction of LLT from its potential mimics.

• Klíčová slova
• fibrosarcoma-like lipomatous neoplasm, lipoblastoma-like tumor, lipomatous tumor, myxoid sarcoma,
• MeSH
• dospělí MeSH
• fibrosarkom * MeSH
• lidé MeSH
• lipoblastom * genetika   MeSH
• lipom * genetika   patologie   MeSH
• liposarkom * genetika   MeSH
• molekulární biologie MeSH
• myxoidní liposarkom * MeSH
• nádorové biomarkery genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• nádorové biomarkery MeSH

INTRODUCTION: Soft tissue sarcomas (STSs) are malignant tumors arising from mesenchymal tissues. Patients with advanced and metastatic STSs have low overall survival rates and relatively limited treatment options. Oncostatin M (OSM) is a pleiotropic cytokine that was shown to carry both pro- and anti-tumorigenic properties in various cancer types. However, the role of OSM in STSs has not yet been elucidated. Moreover, the potential additive effects of combining OSM and anti-PD-1 therapy have not been carried out so far. METHODS: The aim of this study was to determine the effects of in vitro OSM administration on liposarcoma, leiomyosarcoma, and myxofibrosarcoma immune cells isolated from peripheral blood and tumor tissues and the potential cooperative nature of OSM and nivolumab in treating these STSs. We designed a cohort study to explore novel histology-driven therapies in our target STSs. The immune cells were isolated from the peripheral blood and tumors of patients with STS, and the proportions and phenotypes of immune cells were evaluated with flow cytometry after cultivation with therapeutic monoclonal antibodies. RESULTS: The proportion of peripheral CD45+ cells was not affected by OSM but was significantly increased by nivolumab, whereas both treatments had an effect on CD8+ T cells. In tumor tissues, CD8+ T cell and CD45‒ TRAIL+ cell cultures were boosted by nivolumab and significantly enriched by OSM. Our data suggest that OSM may play a role in the treatment of leiomyosarcoma, myxofibrosarcoma, and liposarcoma. CONCLUSION: In conclusion, the biological efficacy of OSM is reflected in the tumor microenvironment rather than in the peripheral blood of the patients in our cohort, and nivolumab could potentiate its mechanism of action in selected cases. Nevertheless, more histotype-tailored studies are needed to fully understand the functions of OSM in STSs.

• Klíčová slova
• Cytokines, Monoclonal antibody, Nivolumab, Oncostatin M, Soft tissue sarcomas, T cells, Tumor microenvironment,
• MeSH
• kohortové studie MeSH
• leiomyosarkom * MeSH
• lidé MeSH
• liposarkom * MeSH
• nádorové mikroprostředí MeSH
• nivolumab farmakologie   terapeutické užití   MeSH
• onkostatin M farmakologie   metabolismus   MeSH
• T-lymfocyty metabolismus   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• nivolumab MeSH
• onkostatin M MeSH

Hibernomas are soft tissue tumors derived from remnants of brown fat. They are rare masses that can have variable presentations ranging from incidental asymptomatic masses to pain due to nerve compression. We present the case of a 52-year-old male presenting with an atypical lipomatous mass on ultrasound and magnetic resonance imaging. The mass was excised and sent for pathology with the result being a hibernoma. We should be vigilant in the treatment of such tumor presentations as they may be a low grade liposarcoma in disguise. Surgical biopsy or excision is the best treatment for achieving a definite diagnosis.

• Klíčová slova
• atypical lipomatous tumor, hibernoma, upper extremity tumors,
• MeSH
• diferenciální diagnóza MeSH
• lidé středního věku MeSH
• lidé MeSH
• lipom * diagnostické zobrazování   chirurgie   MeSH
• liposarkom * diagnostické zobrazování   chirurgie   MeSH
• nádory měkkých tkání * diagnostické zobrazování   chirurgie   MeSH
• rameno patologie   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Large unresectable STS presents a therapeutic challenge. Several options are being explored to avoid amputation without compromising the oncological outcome. Neoadjuvant chemotherapy delivers inconsistent and rather unsatisfactory results, preoperative radiotherapy compromises healing, hence it can impede adjuvant systemic treatment. We present a case report of neoadjuvant use of isolated limb perfusion with TNF-alfa and Alkeran (Melphalan) in a patient with initially unresectable large myxoid liposarcoma of the thigh. We achieved 55% reduction in size of the tumor that allowed for wide resection with a safe margin. Pathology confirmed 99% tumor necrosis. The patient has a full function of his extremity and is disease-free at one year follow-up. ILP should be considered as a treatment option which, in selected cases, can contribute to limb sparing surgery. Key words: sarcoma, soft tissue, regional perfusion, chemotherapy, surgery, orthopedic, limb salvage.

• MeSH
• chemoterapie nádorů pomocí regionální perfúze MeSH
• dospělí MeSH
• končetiny MeSH
• lidé MeSH
• myxoidní liposarkom * diagnostické zobrazování   farmakoterapie   chirurgie   MeSH
• neoadjuvantní terapie * MeSH
• perfuze MeSH
• stehno MeSH
• záchrana končetiny MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

The distinction between lipoma and atypical lipomatous tumor can be challenging in some cases. While detection of MDM2 gene amplification via fluorescence in situ hybridization (FISH) has been well established as a diagnostic tool to distinguish atypical lipomatous tumor and well-differentiated liposarcoma from benign mimics, MDM2 RNA in situ hybridization (RNA-ISH) has recently been proposed as an alternative diagnostic assay. During clinical workup for lipomatous tumors using MDM2 RNA-ISH, we noticed several dysplastic lipomas that were positive for MDM2 RNA-ISH but negative for MDM2 amplification by FISH. In this study, we examined a series of 11 dysplastic lipomas, all confirmed to be negative for MDM2 amplification by FISH. Positive MDM2 RNA-ISH was noted in 10 (91%) dysplastic lipomas. Single-nucleotide polymorphism array on one dysplastic lipoma identified the presence of homozygous deletion of 13q, including the RB1 gene locus with no evidence of MDM2 copy number gain. Our findings on the discordance between MDM2 FISH and MDM2 RNA-ISH highlight the potential utility and pitfalls of using MDM2 RNA-ISH in the distinction of atypical lipomatous tumor and related liposarcomas from dysplastic lipoma.

• Klíčová slova
• Anisometric lipoma, Atypical lipomatous tumor, Dysplastic lipoma, In situ hybridization, MDM2,
• MeSH
• amplifikace genu MeSH
• diferenciální diagnóza MeSH
• dospělí MeSH
• hybridizace in situ metody   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lipom diagnóza   genetika   MeSH
• liposarkom diagnóza   genetika   MeSH
• mladý dospělý MeSH
• nádorové biomarkery analýza   MeSH
• protoonkogenní proteiny c-mdm2 analýza   genetika   MeSH
• RNA analýza   MeSH
• senioři MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• MDM2 protein, human MeSH Prohlížeč
• nádorové biomarkery MeSH
• protoonkogenní proteiny c-mdm2 MeSH
• RNA MeSH

The sarcomatoid variant of renal cell carcinoma is a highly aggressive tumor with propensity for metastasis and limited therapeutic options. Metastases of sarcomatoid renal cell carcinoma can sometimes be mistaken for a variety of spindle cell sarcomas, particularly at soft tissue sites in the absence of a history of a kidney tumor. Immunoreactivity for markers associated with certain types of soft tissue sarcomas can, therefore, pose a pitfall for diagnosis under such circumstances. We evaluated the immunohistochemical and molecular features of 49 cases of sarcomatoid renal cell carcinoma with special emphasis on the expression of MDM2 by immunohistochemistry and MDM2 amplification by fluorescence in situ hybridization. Of the 49 sarcomatoid renal cell carcinoma cases evaluated by fluorescence in situ hybridization, 5 (10%) were positive for MDM2 gene amplification and 5 (10%) contained polysomy 12. Immunohistochemical nuclear expression for MDM2 was also observed in 30/49 (61%) cases; of these, 15/19 (78%) were metastatic and 15/30 (50%) were primary. MDM2 expression by immunohistochemistry has been previously reported in conventional clear cell renal cell carcinoma; however, occurrence of this phenomenon has not yet been properly assessed in the sarcomatoid variant of renal cell carcinoma. Our study demonstrates that alterations of the MDM2 pathway are relatively frequent in sarcomatoid renal cell carcinoma, and nuclear positivity for MDM2 by immunohistochemistry, as well as MDM2 amplification by fluorescence in situ hybridization may pose a potential pitfall for diagnosis with dedifferentiated liposarcoma at metastatic sites. A panel approach to immunohistochemical testing is recommended for the diagnosis of these lesions. Also, identification of cases of sarcomatoid renal cell carcinomas harboring MDM2 copy number gain or gene amplification may also have potential therapeutic implications.

• Klíčová slova
• FISH, MDM2 Amplification, RCC, Renal, Sarcomatoid,
• MeSH
• amplifikace genu fyziologie   MeSH
• diferenciální diagnóza MeSH
• imunohistochemie MeSH
• karcinom z renálních buněk diagnóza   genetika   metabolismus   patologie   MeSH
• lidé MeSH
• liposarkom diagnóza   genetika   metabolismus   patologie   MeSH
• nádorové biomarkery MeSH
• nádory ledvin diagnóza   genetika   metabolismus   patologie   MeSH
• nádory měkkých tkání diagnóza   genetika   metabolismus   patologie   MeSH
• protoonkogenní proteiny c-mdm2 genetika   metabolismus   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• MDM2 protein, human MeSH Prohlížeč
• nádorové biomarkery MeSH
• protoonkogenní proteiny c-mdm2 MeSH

• MeSH
• amplifikace genu MeSH
• lidé MeSH
• lipom genetika   MeSH
• liposarkom genetika   MeSH
• nádorový supresorový protein p53 MeSH
• protoonkogenní proteiny c-mdm2 genetika   MeSH
• retinoblastom * MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• dopisy MeSH
• komentáře MeSH
• práce podpořená grantem MeSH
• Názvy látek
• MDM2 protein, human MeSH Prohlížeč
• nádorový supresorový protein p53 MeSH
• protoonkogenní proteiny c-mdm2 MeSH

In our routine and consultative pathology practices, we have repeatedly encountered an unusual subcutaneous fatty tumor with notable anisocytosis, single-cell fat necrosis, and patchy, often mild, adipocytic nuclear atypia. Because of the focal atypia, consultative cases have most often been received with concern for a diagnosis of atypical lipomatous tumor. Similar tumors have been described in small series under the designations "subcutaneous minimally atypical lipomatous tumors" and "anisometric cell lipoma." Sixty-six cases of this tumor type were collected and reviewed. Immunohistochemistry for p53, MDM2, CDK4, Retinoblastoma 1 (RB1) protein, CD34, S100, and CD163 was performed. Cases were tested for MDM2 gene amplification and RB1 gene deletion with fluorescence in situ hybridization (FISH) and for TP53 mutations by Sanger sequencing. Next-generation sequencing analysis using a panel of 271 cancer-related genes, including TP53, RB1, and MDM2, was also carried out. Our patient cohort included 57 male patients, 8 female patients, and 1 patient of unstated sex, who ranged in age from 22 to 87 years (mean: 51.2 y). All tumors were subcutaneous, with most examples occurring on the upper back, shoulders, or posterior neck (86.4%). Ten patients had multiple (2 to 5) lipomatous tumors, and the histology was confirmed to be similar in the different sites in 4 of them, including 1 patient who had a retinoblastoma diagnosed at age 1. The tumors were generally well circumscribed. At low magnification, there was notable adipocytic size variation with single-cell fat necrosis in the background associated with reactive histiocytes. Adipocytic nuclear atypia was typically patchy and characterized by chromatin coarsening, nuclear enlargement, and focal binucleation or multinucleation. Focal Lochkern change was frequent. In most instances, the degree of atypia was judged to be mild, but in 3 instances, it was more pronounced. Spindle cells were sparse or absent, and when present, cytologically bland. Thick ropy collagen bundles were absent. In all cases, p53 immunoexpression was noted (range: 2% to 20% of adipocytic nuclei), characteristically highlighting the most atypical cells. Twenty of 50 cases had MDM2 immunoreactivity, usually in <1% of the neoplastic cells, but in 4 cases, up to 10% of the cells were positive. Of 32 cases tested, 22 showed a near total loss of RB1 immunoexpression, and the remainder showed partial loss. Three of 13 cases showed RB1 gene deletion in >45% of the cells by FISH (our threshold value for reporting a positive result) with an additional 3 cases being very close to the required cutoff value. MDM2 gene amplification was absent in all 60 cases tested, including those with the greatest MDM2 immunoexpression and most pronounced atypia. All 5 tested cases showed no TP53 mutation with Sanger sequencing. Because of material quality issues, next-generation sequencing analysis could be performed in only 3 cases, and this did not reveal any recurrent mutations. All tumors were managed by simple local excision. Follow-up was available for 47 patients (range: 1 to 192 mo; mean: 27 mo) and revealed 2 local recurrences and no metastases. Dysplastic lipoma is a distinctive atypical fatty tumor variant that has p53 overexpression and RB1 gene abnormalities and lacks MDM2 gene amplification by FISH. These tumors have a strong male predominance and a notable tendency to involve the subcutaneous tissue of the shoulders, upper back and posterior neck. Multifocality is frequent (18.9% of patients with follow-up information), and there is a rare association with retinoblastoma. This tumor warrants separation from ordinary lipoma with fat necrosis, fat-rich spindle cell lipoma and the conventional form of atypical lipomatous tumor that features MDM2 gene amplification.

• MeSH
• amplifikace genu * MeSH
• diferenciální diagnóza MeSH
• dospělí MeSH
• genetická predispozice k nemoci MeSH
• hybridizace in situ fluorescenční * MeSH
• imunohistochemie MeSH
• lidé středního věku MeSH
• lidé MeSH
• liposarkom * chemie   genetika   patologie   MeSH
• mladý dospělý MeSH
• mnohočetné primární nádory * chemie   genetika   patologie   MeSH
• mutace MeSH
• mutační analýza DNA MeSH
• nádorové biomarkery * analýza   genetika   MeSH
• nádorový supresorový protein p53 * analýza   genetika   MeSH
• prediktivní hodnota testů MeSH
• protoonkogenní proteiny c-mdm2 genetika   MeSH
• retinoblastom * chemie   genetika   patologie   MeSH
• retrospektivní studie MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• tuková nekróza MeSH
• tukové buňky * chemie   patologie   MeSH
• ubikvitinligasy genetika   MeSH
• upregulace MeSH
• vazebné proteiny retinoblastomu genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Evropa MeSH
• Názvy látek
• MDM2 protein, human MeSH Prohlížeč
• nádorové biomarkery * MeSH
• nádorový supresorový protein p53 * MeSH
• protoonkogenní proteiny c-mdm2 MeSH
• RB1 protein, human MeSH Prohlížeč
• TP53 protein, human MeSH Prohlížeč
• ubikvitinligasy MeSH
• vazebné proteiny retinoblastomu MeSH

BACKGROUND: Mesenchymal malignancies are relatively rare tumors with distinct behaviors that are usually surgically removal. However, it is sometimes impossible to perform such surgery according to standardized procedures. In particular, surgical removal of intraperitoneal and retroperitoneal tumors differs among individuals. CASE REPORTS: We present two cases with intra-abdominal and retroperitoneal sarcomas who were treated at our comprehensive oncology center. The first patient was a 36-year-old male who was initially diagnosed with a tumor in the subrenal space that measured 95 × 90 × 140mm, contacted the inferior vena cava and right kidney, and had the same blood supply as the upper pole of the right kidney. Primary histological analysis indicated that the tumor was a schwannoma. After further examinations, the tumor was removed and the right kidney was preserved. A ganglioneuroblastoma was diagnosed based on definitive histological analysis. Adjuvant radiotherapy was administered to the tumor bed. The patient is disease-free at 1 year after resection. The second patient was a 52-year-old male who was diagnosed with a liposarcoma in the retroperitoneal space that measured 50 × 36 × 15cm and weighed 14kg upon resection. Resection involved left-side nephrectomy and adrenalectomy. Adjuvant chemotherapy with IFO/ADM was administered. A recurrence in the tumor bed was resected 31 months after the primary resection. Three new foci appeared in the retroperitoneal space after another 18 months and were removed. Another recurrence in the left funiculus was removed after a further 6 months. The patient has been disease-free for 3 months. CONCLUSIONS: Treatment of soft tissue sarcoma is complex and should be performed at a comprehensive oncology center if possible. Preoperative biopsy is essential. Key words: sarcoma - surgical procedures Supported by MZ ČR-RVO (MOÚ,00209805). The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 6. 3. 2018 Accepted: 20. 3. 2018.

• MeSH
• dospělí MeSH
• ganglioneuroblastom radioterapie   chirurgie   MeSH
• lidé středního věku MeSH
• lidé MeSH
• liposarkom farmakoterapie   chirurgie   MeSH
• lokální recidiva nádoru chirurgie   MeSH
• nádory břicha farmakoterapie   radioterapie   chirurgie   MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH