We report a case of a 67-year-old male patient with a sinonasal tumor that showed areas of classic biphenotypic sinonasal sarcoma (BSNS) which in some sections sharply transitioned into high-grade rhabdomyosarcoma. Immunohistochemically, the conventional BSNS parts showed S100 protein, SMA, PAX7, and focal MyoD1 expression, whereas desmin and myogenin were negative. In contrast, the cells in high-grade areas expressed desmin, MyoD1, myogenin, and PAX7, while being negative for S100 protein and SMA. Using the Archer FusionPlex assay, the classical PAX3::MAML3 gene fusion was detected. FISH for PAX3 and MAML3 confirmed a break of these genes in both components. Despite aggressive therapy, the tumor progression resulted in the patient's death. The herein presented case, together with 2 previously published cases of BSNS with high-grade transformation, helps to better understand this novel phenomenon. Although the risk for such transformation appears low, it has important clinical and diagnostic implications which are discussed.
- MeSH
- alveolární rhabdomyosarkom * MeSH
- desmin MeSH
- imunohistochemie MeSH
- lidé středního věku MeSH
- lidé MeSH
- myogenin MeSH
- nádorové biomarkery genetika MeSH
- nádory měkkých tkání * genetika MeSH
- nádory vedlejších dutin nosních * patologie MeSH
- proteiny S100 MeSH
- rhabdomyosarkom * genetika MeSH
- sarkom * genetika MeSH
- trans-aktivátory MeSH
- transkripční faktor PAX3 genetika MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
V kazuistike popisujeme raritný prípad embryonálneho rabdomyosarkómu v dospelosti u 39-ročného muža. Marec 2016 amputácia pravej hornej končatiny v polovici ramena pre malígny tumor – histológia mezenchiálny tumor s črtami v. s. fibrózneho monofázického synoviálneho sarkómu. Dva roky po operácii došlo u pacienta k rozvoju srdcového zlyhávania. Echokardiograficky bol v popredí nálezu tumor okolo voľnej steny ľavej komory (ĽK) nasadajúci na stenu ĽK a utláčujúci voľnú stenu ĽK. Nález bol potvrdený aj magnetickou rezonanciou srdca. Po zhodnotení nálezu heart tímom bol pacient indikovaní na kardiochirurgickú operáciu-extirpáciu tumoru. Táto bola úspešne zrealizovaná. U pacienta však došlo vo včasnom pooperačnom období k rozvoju závažného srdcové zlyhávania a následne multiorgánovému zlyhaniu a piaty poopečný deň exitoval. Na základe komplexného histomorfologického, imunohistochemického a molekulovo-genetického vyšetrenia ide o embryonálny rabdomyosarkóm (vretenobunkový podtyp high – grade).
The case report describes a rare case of embryonal rhabdomyosarcoma in adult a 39-year-old male. March 2016 right upper limb amputation in mid-arm for malignant tumor – histology mesenchial tumor with traits v.s. fibrous monophasic synovial sarcoma. Subsequently, two years after the operation, the patient developed heart failure. Echocardiographically a tumor was found around the free wall of the left ventricle (LV) deploying on the LV wall and oppressing the free wall of LV. The finding was also confirmed by the magnetic resonance of the heart. After evaluating the heart team the patient was indicated for cardiac surgery-tumor extirpation. This has been successfully implemented. However, the patient developed severe heart failure in the early post-operative period followed by multiorgan failure and fifth post-operative day patient died. On the basis of complex histomorphological, immunohistochemical and molecular-genetic examination it is embryonal rhabdomyosarcoma (spindle cell subtype high – grade).
- MeSH
- amputace MeSH
- dospělí MeSH
- embryonální rhabdomyosarkom chirurgie diagnostické zobrazování imunologie patologie MeSH
- horní končetina chirurgie patologie MeSH
- lidé MeSH
- magnetická rezonanční tomografie metody MeSH
- multiorgánové selhání etiologie mortalita MeSH
- myogenin izolace a purifikace krev MeSH
- nádory srdce * chirurgie diagnostické zobrazování mortalita MeSH
- nádory z fibrózní tkáně chirurgie patologie MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
The transcription factor c-Myb is required for modulation of progenitor cells in several tissues, including skeletal muscle and its upregulation is observed in many human malignancies. Rhabdomyosarcomas (RMS) are a heterogeneous group of mesodermal tumors with features of developing skeletal muscle. Several miRNAs are downregulated in RMS, including miR-150, a negative regulator of c-Myb expression. Using the C2C12 myoblast cell line, a cellular model of skeletal muscle differentiation, we showed that miR-150 controls c-Myb expression mainly at the level of translation. We hypothesized that a similar mechanism of c-Myb regulation operates in RMS tumors. We examined expression of c-Myb by immunohistochemistry and revealed c-Myb positivity in alveolar and embryonal tumors, the two most common subgroups of RMS. Furthermore, we showed direct correlation between c-Myb production and myogenin expression. Interestingly, high myogenin levels indicate poor prognosis in RMS patients. c-Myb could, therefore, contribute to the tumor phenotype by executing its inhibitory role in skeletal muscle differentiation. We also showed that c-Myb protein is abundant in migratory C2C12 myoblasts and its ectopic expression potentiates cell motility. In summary, our results implicate that metastatic properties of some RMS subtypes might be linked to c-Myb function.
- MeSH
- lidé MeSH
- myogenin MeSH
- myši MeSH
- nádorové biomarkery metabolismus MeSH
- nádorové buněčné linie MeSH
- protoonkogenní proteiny c-myb metabolismus MeSH
- regulace genové exprese u nádorů * MeSH
- rhabdomyosarkom metabolismus patologie sekundární MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- myši MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
Gliosarkóm (GS) je relatívne vzácny variant glioblastómu, charakterizovaný bifázickou gliálnou a mezenchymálnou diferenciáciou. Sarkomatózna časť najčastejšie pripomína fibrosarkóm alebo tzv. malígny fibrózny histiocytóm. Vzácne je v GS prítomná heterológna diferenciácia vo forme osteosarkómu, chondrosarkómu, liposarkómu, leiomyosarkómu, skvamóznej alebo žľazovej malígnej epiteliálnej diferenciácie, alebo diferenciácie pripomínajúcej primitívny neuroektodermálny tumor (PNET). Keď je v GS prítomná rabdomyosarkómová diferenciácia, je vo forme malígnych vretenovitých buniek s priečne pruhovanými bunkami alebo okrúhlymi rabdomyoblastami, pripomínajúca embryonálny rabdomyosarkóm. V kazuistike popisujeme GS s komponentou pripomínajúcou alveolárny rabdomyosarkóm. Nádor rástol v solídnych a alveolárnych formáciách a bol zložený z nediferencovaných primitívnych malých okrúhlych buniek s minimálnou cytoplazmou, nápadne zvýšenou mitotickou aktivitou a početnými apoptózami. Rabdomyosarkomatózna diferenciácia bola potvrdená pozitívnou imunohistochemickou reakciou na dezmín a myogenín. Podľa naších vedomostí, takýto histologický vzor nebol v GS doposiaľ popísaný. V krátkosti je prebraná diferenciálna diagnóza prípadu.
Gliosarcoma (GS) is a relatively rare glioblastoma variant characterized by biphasic glial and mesenchymal differentiation patterns. The sarcomatous part most commonly resembles fibrosarcoma or so-called malignant fibrous histiocytoma. Rarely, GS shows heterologous lines of differentiation in the form of osteosarcoma, chondrosarcoma, liposarcoma, leiomyosarcoma, squamous or glandular malignant epithelial differentiation, or primitive neuroectodermal tumor (PNET)-like foci. When rhabdomyoblastic differentiation occurs, it is in the form of malignant spindle cells, with cross-striated strap cells or rounded rhabdomyoblasts reminiscent of the embryonal type of rhabdomyosarcoma. We are reporting a case of GS with an alveolar rhabdomyosarcoma-like component. The tumor consisted of poorly differentiated primitive small round cells growing in a solid and alveolar pattern, with minimal cytoplasm, markedly elevated mitotic activity and numerous apoptotic nuclei. Rhabdomyosarcomatous differentiation was confirmed by desmin and myogenin immunopositivity. To the best of our knowledge, this histologic pattern has not been previously reported in GS. Differential diagnostic considerations are discussed.
- Klíčová slova
- alveolárny rabomyosarkóm,
- MeSH
- alveolární rhabdomyosarkom * imunologie patologie MeSH
- desmin diagnostické užití MeSH
- gliosarkom * imunologie patologie terapie MeSH
- imunohistochemie metody využití MeSH
- lidé MeSH
- myogenin diagnostické užití MeSH
- nádorová transformace buněk * imunologie klasifikace patologie MeSH
- radioterapie metody MeSH
- senioři MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
Rhabdomyosarcoma is the most common soft tissue sarcoma of childhood. There are two major histopathological types of RMS – embryonal (eRMS) and alveolar (aRMS). A molecular study of Igf2, MyoD1 and Myogenin was performed to determine the expression profiles and to assess the possible utility of these genes as potential treatment targets. Patients with RMS showed up to 100-fold increase of Igf2 transcription in comparison with normal skeletal muscle. Our data suggest that overexpression of Igf2 occurs in RMS of both histological subtypes. No correlation between the results of Igf2 mRNA expression and LOH at the 11p15 region (p= 0.12) was observed, but there was a trend of a higher expression of Igf2 mRNA in RMS samples with LOH. We observed a high level of MyoD1 mRNA in both aRMS and eRMS, and we detected a similar level of MyoD1 mRNA in RMS and normal skeletal muscles. There was a correlation between the results of MyoD1 mRNA expression and LOH at the 11p15 region.We did not observe any statistical difference in the level of Myogenin mRNA in the subgroups of RMS. Analogous to MyoD1, we observed a similar level of Myogenin mRNA in RMS and normal skeletal muscles.
- MeSH
- alveolární rhabdomyosarkom genetika MeSH
- dospělí MeSH
- embryonální rhabdomyosarkom genetika MeSH
- fúzní onkogenní proteiny genetika MeSH
- insulinu podobný růstový faktor II genetika MeSH
- kosterní svaly metabolismus patologie MeSH
- kostní dřeň metabolismus patologie MeSH
- lidé MeSH
- messenger RNA genetika MeSH
- míra přežití MeSH
- MyoD Protein genetika MeSH
- myogenin genetika MeSH
- nádorové biomarkery genetika MeSH
- polymerázová řetězová reakce s reverzní transkripcí MeSH
- prognóza MeSH
- transkripční faktor PAX7 genetika MeSH
- ztráta heterozygozity MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
We describe 12 cases of leiomyoma with intracytoplasmic inclusion bodies, which were detected in a group of 447 leiomyomas examined at our institution between December 2005 and March 2006. Ten of these tumors were typical leiomyomas, and two cases represented atypical (bizarre) leiomyoma. In some cases, the presence of intracytoplasmic inclusion bodies resulted in a rhabdoid or skeletal muscle-like appearance of the tumor cells. Ultrastructurally, there were two types of inclusions. One of them consisted of an abnormal aggregation of intermediate and actin filaments. Another type of inclusions was composed of dense granular material without an apparent fibrillar structure. The ultrastructure of the inclusions correlates with immunohistochemical and histochemical stainings. The inclusions with apparent fibrillar arrangements were PAS negative, stained red by trichrome, and were, at least at the periphery, actin-, desmin-, and h-caldesmon-positive. The dense granular inclusions were at least focally PAS-positive, stained red by trichrome, and were negative immunohistochemically. The intracytoplasmic inclusions were found in atypical (bizarre) leiomyomas of the uterus and occasionally in epithelioid leiomyomas and leiomyosarcomas. However, to the best of our knowledge, these inclusions have not been found in typical uterine leiomyomas to date.
- MeSH
- aktiny analýza MeSH
- azosloučeniny MeSH
- biologické markery analýza MeSH
- buněčná inkluze chemie ultrastruktura MeSH
- desmin analýza MeSH
- diferenciální diagnóza MeSH
- dospělí MeSH
- eosin MeSH
- financování organizované MeSH
- imunohistochemie metody MeSH
- keratiny analýza MeSH
- leiomyom diagnóza chemie ultrastruktura MeSH
- lidé středního věku MeSH
- lidé MeSH
- methylová zeleň MeSH
- MyoD Protein analýza MeSH
- myogenin analýza MeSH
- nádory dělohy diagnóza chemie ultrastruktura MeSH
- proteiny vázající kalmodulin analýza MeSH
- rhabdoidní nádor patologie MeSH
- Schiffova reakce MeSH
- senioři MeSH
- vimentin analýza MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- senioři MeSH
- ženské pohlaví MeSH
