The Rare Gynecologic Sarcoma study involved 23 institutions from 10 countries focusing on myxoid leiomyosarcoma and non-smooth muscle uterine sarcomas. Here, we present the main results of the study, including the comparison between the original and final diagnosis, the frequency and type of molecular aberrations, and the clinicopathologic outcomes. A total of 379 cases were included, with available results for next-generation sequencing (NGS) RNA in 338 of 379 cases and NGS DNA in 335 of 379 cases. According to the original diagnoses, the study included 204 cases of low-grade endometrial stromal sarcoma (LG-ESS), 75 cases of high-grade endometrial stromal sarcoma (HG-ESS), 74 cases of undifferentiated uterine sarcoma (UUS), 17 cases of myxoid leiomyosarcoma, and 9 cases of unclassifiable sarcoma. The results of our second reading showed that 29% (110/379) of all the tumors had been originally misdiagnosed. After the reclassification, the final diagnoses were 147 cases of LG-ESS, 69 cases of HG-ESS, 58 cases of UUS, 3 cases of LG-ESS with high-grade transformation, 7 cases of perivascular epithelioid cell tumor, 9 cases of uterine tumor resembling ovarian sex cord tumor, 8 cases of tumors with a KAT6B/A::KANSL1 fusion, 2 cases of tumors with an NTRK fusion, 29 cases of undifferentiated carcinoma, and 47 tumors with smooth muscle differentiation. The molecular testing showed that LG-ESS harbor a recurrent fusion in 75.9% and HG-ESS in 43.7% of cases. The results of our study emphasize the diagnostic, prognostic, and predictive significance of molecular testing in mesenchymal uterine tumors.
- MeSH
- dospělí MeSH
- endometriální stromální sarkom genetika patologie diagnóza MeSH
- leiomyosarkom genetika patologie diagnóza MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádory dělohy * genetika patologie diagnóza MeSH
- sarkom * genetika patologie diagnóza MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
Prezentujeme kazuistiku 69letého muže, u něhož byl při ultrazvukovém vyšetření urotraktu náhodně zachycen suspektní 30mm útvar v oblasti levé nadledviny, na základě zobrazovacích vyšetření nebylo možné vyloučit maligní potenciál nálezu. Pacient byl indikován k levostranné adrenalektomii, histologickým nálezem byl středně diferencovaný ohraničený leiomyosarkom, nadledvina byla bez infiltrace. Pacient byl bez známek generalizace, na základě doporučení multidisciplinárního onkologického týmu je zařazen do sledování, kontrolní restagingové CT proběhlo šest měsíců od výkonu s negativním nálezem.
We describe a case report of a 69-year-old male with suspicious 30 mm mass in the area of left adrenal gland detected on ultrasound examination. Based on imaging examinations it was not possible to rule out a malignant potential of the lesion. The patient underwent left side adrenalectomy, the histological examination revealed a moderately differentiated, well-circumscribed leiomyosarcom. The adrenal gland was without infiltration. There were no signs of metastatic disease. According to the recommendation of multidisciplinary oncology team, he is placed under surveillance. The patient underwent a follow-up restaging CT 6 months after the surgery with negative results.
- MeSH
- adrenalektomie metody MeSH
- leiomyosarkom * chirurgie diagnóza patologie MeSH
- lidé MeSH
- nadledviny patologie MeSH
- nádory z pojivové a měkké tkáně patologie terapie MeSH
- počítačová rentgenová tomografie MeSH
- retroperitoneální nádory chirurgie diagnóza patologie MeSH
- senioři MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- kazuistiky MeSH
Inflammatory rhabdomyoblastic tumor is a recently introduced name for neoplasms currently included in the World Health Organization classification of soft tissue tumors under the rubric inflammatory leiomyosarcoma. Inflammatory rhabdomyoblastic tumor is an excellent example of how surgical pathologists working in conjunction with tumor biologists can greatly improve tumor classification to the benefit of patients. Over the last 28 years, understanding of this entity has undergone a fascinating evolution. This review serves as a summary of the latest findings in inflammatory rhabdomyoblastic tumor research and a diagnostic manual for the practicing surgical pathologist.
PLAG1 gene fusions were recently identified in a subset of uterine myxoid leiomyosarcomas (M-LMS). However, we have encountered cases of PLAG1-rearranged uterine sarcomas lacking M-LMS-like morphology and/or any expression of smooth muscle markers. To better characterize their clinicopathologic features, we performed a multiinstitutional search that yielded 11 cases. The patients ranged in age from 34 to 72 years (mean, 57 years). All tumors arose in the uterine corpus, ranging in size from 6.5 to 32 cm (mean, 15 cm). The most common stage at presentation was pT1b (n = 6), and 3 cases had stage pT1 (unspecified), and 1 case each presented in stages pT2a and pT3b. Most were treated only with hysterectomy and adnexectomy. The follow-up (range, 7-71 months; median, 39 months) was available for 7 patients. Three cases (7-21 months of follow-up) had no evidence of disease. Three of the 4 remaining patients died of disease within 55 to 71 months, while peritoneal spread developed in the last patient, and the patient was transferred for palliative care at 39 months. Morphologically, the tumors showed a high intertumoral and intratumoral heterogeneity. M-LMS-like and epithelioid leiomyosarcoma-like morphology were present in 3 and 5 primary tumors, respectively, the remaining mostly presented as nondescript ovoid or spindle cell sarcomas. Unusual morphologic findings included prominently hyalinized stroma (n = 3), adipocytic differentiation with areas mimicking myxoid liposarcoma (n = 2), osteosarcomatous differentiation (n = 1), and undifferentiated pleomorphic sarcoma-like areas (n = 1). The mitotic activity ranged from 3 to 24 mitoses per 10 high-power fields (mean, 9); 3 of 10 cases showed necrosis. In 3 of 11 cases, no expression of smooth muscle actin, h-caldesmon, or desmin was noted, whereas 5 of 5 cases expressed PLAG1. By RNA sequencing, the following fusion partners were identified: PUM1, CHCHD7 (each n = 2), C15orf29, CD44, MYOCD, FRMD6, PTK2, and TRPS1 (each n = 1). One case only showed PLAG1 gene break by fluorescence in situ hybridization. Our study documents a much broader morphologic spectrum of PLAG1-rearranged uterine sarcomas than previously reported, encompassing but not limited to M-LMS-like morphology with occasional heterologous (particularly adipocytic) differentiation. As it is currently difficult to precisely define their line of differentiation, for the time being, we suggest using a descriptive name "PLAG1-rearranged uterine sarcoma."
- MeSH
- DNA vazebné proteiny * genetika MeSH
- dospělí MeSH
- fenotyp MeSH
- genová přestavba * MeSH
- imunohistochemie MeSH
- leiomyosarkom * genetika patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádorové biomarkery genetika MeSH
- nádory dělohy * genetika patologie MeSH
- sarkom * genetika patologie MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
Leiomyosarcoma with adipocytic differentiation or lipoleiomyosarcoma is an uncommon sarcoma of the female genital tract with only a few individual reports in the literature. We therefore performed a morphologic, immunohistochemical, MDM2 gene amplification and RNA and DNA sequencing analysis of a series of gynecologic lipoleiomyosarcoma to better define the clinicopathologic spectrum. Six tumors from 6 patients were identified and classified as spindled lipoleiomyosarcoma (n = 2), mixed spindled and myxoid lipoleiomyosarcoma (n = 1), epithelioid lipoleiomyosarcoma with focal myxoid features (n = 1) and mixed spindled and epithelioid lipoleiomyosarcoma (n = 2). Patient age ranged from 41 to 64 years (mean: 49; median: 50). Primary location included uterine corpus (3), uterine corpus/cervix (2) and broad ligament (1). Tumor size ranged from 4.5 to 22 cm (mean: 11.2; median: 9.8). Four patients had metastasis at presentation or subsequently developed recurrent or distant disease. Patient status was known for 5: 2 dead of disease, 2 alive with disease and 1 alive without evidence of disease. Immunohistochemical expression of smooth muscle markers, ER, PR and WT-1 showed patterns similar to non-adipocytic gynecologic leiomyosarcomas. MDM2 amplification fluorescence in situ hybridization performed on 2 tumors was negative in 1 and equivocal in 1. Sequencing studies performed on 3 tumors found TP53 mutations in 3, with 1 tumor also having an ATRX alteration. No gene fusions were identified. Although lipoleiomyosarcomas have a diverse morphologic spectrum, our findings suggest the smooth muscle component shares morphologic and immunohistochemical features with female genital tract non-adipocytic leiomyosarcomas. Lipoleiomyosarcomas also have genetic alterations associated with non-adipocytic gynecologic leiomyosarcomas.
- MeSH
- dospělí MeSH
- hybridizace in situ fluorescenční MeSH
- imunohistochemie MeSH
- leiomyosarkom * patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- molekulární biologie MeSH
- nádor z hladké svalové tkáně * patologie MeSH
- nádorové biomarkery genetika analýza MeSH
- protoonkogenní proteiny c-mdm2 genetika MeSH
- ženské pohlavní orgány chemie patologie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
OBJECTIVE: Uterine sarcomas are a rare and heterogeneous group of malignancies that include different histological sub-types. The aim of this study was to identify and evaluate the impact of the different prognostic factors on overall survival and disease-free survival of patients with uterine sarcoma. METHODS: This international multicenter retrospective study included 683 patients diagnosed with uterine sarcoma at 46 different institutions between January 2001 and December 2007. RESULTS: The 5-year overall survival for leiomyosarcoma, endometrial stromal sarcoma, undifferentiated sarcoma, and adenosarcoma was 65.3%, 78.3%, 52.4%, and 89.5%, respectively, and the 5-year disease-free survival was 54.3%, 68.1%, 40.3%, and 85.3%, respectively. The 10-year overall survival for leiomyosarcoma, endometrial stromal sarcoma, undifferentiated sarcoma and adenosarcoma was 52.6%, 64.8%, 52.4%, and 79.5%, respectively, and the 10-year disease-free survival was 44.7%, 53.3%, 40.3%, and 77.5%, respectively. The most significant factor associated with overall survival in all types of sarcoma except for adenosarcoma was the presence of residual disease after primary treatment. In adenosarcoma, disease stage at diagnosis was the most important factor (hazard ratio 17.7; 95% CI 2.86 to 109.93). CONCLUSION: Incomplete cytoreduction, tumor persistence, advanced stage, extra-uterine and tumor margin involvement, and the presence of necrosis were relevant prognostic factors significantly affecting overall survival in uterine sarcoma. The presence of lymph vascular space involvement and administration of adjuvant chemotherapy were significantly associated with a higher risk of relapse.
- MeSH
- adenosarkom * terapie patologie MeSH
- endometriální stromální sarkom * terapie patologie MeSH
- leiomyosarkom * patologie MeSH
- lidé MeSH
- lokální recidiva nádoru MeSH
- nádory dělohy * patologie MeSH
- nádory endometria * patologie MeSH
- nádory pánve * MeSH
- prognóza MeSH
- retrospektivní studie MeSH
- sarkom * diagnóza MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
Primary cardiac sarcomas are extremely rare and often with dismal prognosis. Only a few case series and retrospective studies regarding its biological characteristics, diagnostics, and treatment were reported. The multi-modality therapeutic strategy has been discussed in the published literature, but often with contradictory results. There is thus, no consensus on the optimal therapeutic approach to date. We present the case report of the 66-year old female endangered by a large primary leiomyosarcoma expanding in the right-sided heart chambers with imminent risk of acute obstruction of blood flow. The patient was managed by urgent surgical resection. After the histological confirmation of incomplete R1 resection, the treatment was supplemented by adjuvant CT-targeted radiotherapy, resulting in extraordinary survival with complete remission over a 24-month follow-up period. Our case report aims to demonstrate a favorable result of an individually suited complex surgical and oncological treatment to support the multidisciplinary therapeutic approach to these patients. The article is supplemented by a detailed literature review providing a theoretical background and an overview of the acquired knowledge and possible strategies.
- MeSH
- leiomyosarkom * patologie chirurgie MeSH
- lidé MeSH
- prognóza MeSH
- retrospektivní studie MeSH
- senioři MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- přehledy MeSH
Carney triad is a multitumor syndrome affecting almost exclusively young women in a nonfamilial setting, which manifests by multifocal gastric gastrointestinal stromal tumors, paragangliomas, and pulmonary chondroma. The Carney triad-associated tumors are characterized by a deficiency of the mitochondrial succinate dehydrogenase enzymatic complex. Recently, it has been observed that the deficiency results from epigenetic silencing of the SDHC gene by its promoter hypermethylation. To elucidate anatomic distribution of SDHC promoter methylation in Carney triad patients and thus to shed some light on the possible natural development of this epigenetic change, both neoplastic and available non-neoplastic tissues of 3 patients with Carney triad were tested for hypermethylation at the SDHC promoter site. SDHC promoter hypermethylation was proven in all tumors studied. Lack of SDHC epigenetic silencing in the non-neoplastic lymphoid and duodenal tissue (ie, tissues not involved in the development of Carney triad-associated tumors) together with the finding of SDHC promoter hypermethylation in the non-neoplastic gastric wall favors the hypothesis of postzygotic somatic mosaicism as the biological background of Carney triad; it also offers an explanation of the multifocality of gastrointestinal stromal tumors of the stomach occurring in this scenario as well. However, the precise mechanism responsible for the peculiar organ-specific distribution of Carney triad-associated tumors is still unknown.
- MeSH
- chondrom * genetika metabolismus patologie MeSH
- DNA nádorová * genetika metabolismus MeSH
- leiomyosarkom * genetika metabolismus patologie MeSH
- lidé MeSH
- membránové proteiny * genetika metabolismus MeSH
- metylace DNA * MeSH
- mozaicismus * MeSH
- nádorové proteiny * genetika metabolismus MeSH
- nádory plic * genetika metabolismus patologie MeSH
- nádory žaludku * genetika metabolismus patologie MeSH
- nechromafinní paragangliom * genetika metabolismus patologie MeSH
- promotorové oblasti (genetika) * MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Prezentujeme případ 72letého muže s leiomyosarkomem funikulus spermaticus. Pacient byl vyšetřen pro bolesti pravého třísla a zvětšení pravého hemiskrota. Fyzikální vyšetření prokázalo tuhou masu, která zasahovala až do dolní poloviny tříselného kanálu. Ultrazvukové vyšetření zjistilo solidní expanzi s heterogenní strukturou a akcentovanou vaskularizací. Byla provedena radikální orchiektomie s vysokou ligací funiculu. Histologicky byl verifikován nízce diferencovaný leiomyosarkom funikulus spermaticus, nádor patřící do skupiny paratestikulárních tumorů. Stagingové CT plic, retroperitonea a malé pánve neodhalilo postižení lymfatik či vzdálené metastázy. Pooperačně nebyla po zvážení na multioborovém semináři indikovaná adjuvantní onkologická terapie. Důvodem byla zejména radikalita chirurgického výkonu. Během dispenzarizace byl po třech letech zjištěn metastatický proces v retroperitoneálních uzlinách.
We present the case of a 72-year-old man with leiomyosarcoma of spermatic cord. The patient presented with pain in his right groin and enlarged right scrotum. Physical examination showed a rigid mass reaching the lower half of the inguinal canal and filling the right scrotum. Ultrasound examination revealed a solid expansion of the heterogeneous structure with accentuated vascularization. A high-ligation radical orchiectomy was performed. Histologic examination verified low-differentiated leiomyosarcoma of spermaticus funiculus belonging to the group of paratesticular tumors. CT scan of the lungs, retroperitoneum and small pelvis showed no metastatic process or lymphadenopathy. The oncologists did not indicate an adjuvant oncological therapy, the reason being radical tumour removal. After 3 years, metastatic process into the retroperitoneal nodes was verified.
- MeSH
- dakarbazin terapeutické užití MeSH
- doxorubicin terapeutické užití MeSH
- leiomyosarkom * patologie MeSH
- lidé MeSH
- nádory mužských pohlavních orgánů * diagnóza patologie terapie MeSH
- orchiektomie MeSH
- progrese nemoci MeSH
- recidiva MeSH
- semenný provazec patologie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Maligní nádory měkkých tkání jsou velmi málo časté a jejich klinické příznaky necharakteristické. Představují diagnostický problém a pro vysoký maligní potenciál významnou hrozbu. Zásadním pro stanovení diagnózy je histologické a imunohistochemické vyšetření. V textu jsou popisovány případy leiomyosarkomů a liposarkomů.
Soft tissues tumors are rare and their signs are non-specific. They represent a diagnostic challenge as well as a significant threat for their high malignant potential. Histological examination and immunohistochemistry are essential to set the diagnosis. Cases of leiomyosarcomas and liposarcomas diagnosed by us are described in this article.
- MeSH
- imunohistochemie MeSH
- leiomyosarkom * chirurgie diagnóza patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- liposarkom * chirurgie diagnóza patologie MeSH
- nádory kůže * chirurgie diagnóza MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
