Rhabdoid tumors are aggressive tumors that may arise in the kidney, soft tissue, central nervous system, or other organs. They are defined by SMARCB1 (INI1) or SMARCA4 alterations. Often, very young children are affected, and the prognosis is dismal. Four patients with primary atypical teratoid rhabdoid tumor (AT/RT, a rhabdoid tumor in the central nervous system) were treated by resection and high dose chemotherapy. Tazemetostat was introduced after completion of chemotherapy. Three patients have achieved an event free survival of 32, 34, and 30 months respectively. One progressed and died. His overall survival was 20 months. One patient was treated for a relapsed atypical teratoid rhabdoid tumor. The treatment combined metronomic therapy, radiotherapy, tazemetostat and immunotherapy. This patient died of disease progression, with an overall survival of 37 months. One patient was treated for a rhabdoid tumor of the ovary. Tazemetostat was given as maintenance after resection, chemotherapy, and radiotherapy, concomitantly with immunotherapy. Her event free survival is 44 months. Only approximately 40% of patients with rhabdoid tumors achieve long-term survival. Nearly all relapses occur within two years from diagnosis. The event free survival of four of the six patients in our cohort has exceeded this timepoint. Tazemetostat has been mostly tested as a single agent in the relapsed setting. We present promising results when applied as maintenance or add on in the first line treatment.
- MeSH
- dítě MeSH
- DNA-helikasy MeSH
- gen SMARCB1 MeSH
- jaderné proteiny MeSH
- kojenec MeSH
- lidé MeSH
- lokální recidiva nádoru farmakoterapie MeSH
- nádory centrálního nervového systému * patologie MeSH
- předškolní dítě MeSH
- rhabdoidní nádor * farmakoterapie patologie MeSH
- teratom * patologie MeSH
- transkripční faktory MeSH
- Check Tag
- dítě MeSH
- kojenec MeSH
- lidé MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- MeSH
- bronchiální astma etiologie MeSH
- deprese diagnóza psychologie terapie MeSH
- lidé MeSH
- mladiství MeSH
- orchiektomie MeSH
- spánková paralýza * diagnóza terapie MeSH
- teratom chirurgie diagnóza MeSH
- testikulární nádory * chirurgie diagnóza komplikace MeSH
- výsledek terapie MeSH
- znalecký posudek * MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
Spinal anaesthesia (SA) is one of the most prevalent types of anaesthetic procedures. There are very few reports of cord herniation through the site of spinal canal stenosis due to tumour. A 33-year-old female presented with acute paraparesis after spinal anaesthesia for caesarean section. Magnetic resonance imaging (MRI) revealed an intradural mass from posterior of T6 to T8-T9 interface. We operated the patient and after laminectomy of T6 to T9, dermoid tumour containing hairs was totally resected and cord was completely decompressed. After 6 months, the patient is without any neurological deficit. Puncturing the dura with cerebrospinal fluid (CSF) in the presence of an extramedullary mass could cause cord herniation through the blockade. In these cases, awareness about related signs even in absence of symptoms or complaints could help us to prevent post-SA neurological deficit.
- MeSH
- císařský řez MeSH
- dermoidní cysta * diagnóza chirurgie patologie MeSH
- dospělí MeSH
- hernie diagnóza etiologie patologie MeSH
- hrudní obratle patologie chirurgie MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- nádory hrudníku * patologie MeSH
- spinální anestezie * MeSH
- spinální punkce MeSH
- těhotenství MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- MeSH
- diferenciální diagnóza MeSH
- kojenec MeSH
- lidé MeSH
- magnetická rezonanční tomografie metody MeSH
- nádory orbity * chirurgie diagnostické zobrazování klasifikace MeSH
- pooperační období MeSH
- teratom * chirurgie diagnostické zobrazování diagnóza patologie MeSH
- tuková tkáň patologie MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
BACKGROUND: We describe early and typical nonendocrine symptoms of Multiple Endocrine Neoplasia type 2B (MEN2B) presented in our patients with de novo M918T mutation in the RET proto-oncogene in early childhood, however, the diagnosis of MEN2B and medullary thyroid carcinoma (MTC) was confirmed late, in the second decade of life. In this paper, we emphasize the possibility of growth retardation, growth hormone (GH) deficiency and ovarian teratoma as a new symptom of MEN2B. CASE REPORTS: Advanced MTC with palpable mass on the neck and nonendocrine symptoms such as marfanoid habitus, thickened lips, mucosal neuromas led to the diagnosis in case 1 at the age of 13 years and GH deficiency and nonendocrine symptoms in case 2 at the age of 11 years. The earliest feature of MEN2B was alacrima and constipation. Patient 1 was operated on for a slipped femoral capital epiphysis and for a cystic ovarian teratoma. CONCLUSIONS: Improved awareness of nonendocrine signs of MEN2B could lead to earlier diagnosis, when surgical cure of MTC is possible. Alacrima is the first sign of MEN2B. We confirmed the possibility of growth retardation and GH deficiency in MEN2B, which had been previously rarely described. We suggest that patients with MEN2B may develop cystic ovarian teratoma, to the best of our knowledge, which has never been described so far in the literature. The results of this study could be used to guide further diagnosing of MENB2 at the early stage for better clinical outcome. We emphasize that MEN2B carries a risk for development of cystic ovarian teratoma as a novel tumor in this disease.
- MeSH
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mnohočetná endokrinní neoplazie typ 2B * diagnóza genetika patologie MeSH
- nádory štítné žlázy * komplikace chirurgie MeSH
- protoonkogenní proteiny c-ret genetika MeSH
- růstový hormon MeSH
- teratom * komplikace MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- přehledy MeSH
Dermoid cyst of the parotid gland is a lesion composed of benign tissues of ectodermal and mesodermal origin. Although a dermoid cyst can be encountered across nearly all sites of the body, its location in the head and neck area is quite uncommon and even more unusual inside the parotid gland. We present a case of a patient with gradually enlarging tumour in her right parotid gland who underwent surgical removal of the tumour histologically corresponding to a dermoid cyst.
- MeSH
- dermoidní cysta * diagnóza patologie chirurgie MeSH
- lidé MeSH
- nádory příušní žlázy * diagnóza patologie chirurgie MeSH
- parotis chirurgie MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Mature cystic teratoma is the most common type of ovarian tumor in children. Adnexal torsion is the main complication of mature ovarian teratoma. The synchronous bilateral incidence of mature cystic teratoma in premenarchal girls is known to be rare. However, the incidence of adnexal torsion is higher in young girls. A 10-year-old girl presenting with acute abdomen was managed by emergency laparotomy. Bilateral mature ovarian teratoma with adnexal torsion of the right ovary was found. The right ovarian tissue was not viable due to torsion and an oophorectomy was necessary. Cystectomy with preservation of the ovarian tissue of the left ovary was performed. Histopathological diagnosis was bilateral synchronous mature teratoma with necrosis of the right adnexa. Although the risk of malignancy of torsed ovaries and mature teratomas in premenarchal girls is low, their removal is recommended to prevent adnexal torsion. Decision between ovarian tissue sparing surgery or oophorectomy depends on the risk of malignancy, fertility preservation and the avoidance of early menopause.
- MeSH
- dítě MeSH
- laparoskopie * škodlivé účinky MeSH
- lidé MeSH
- nádory vaječníků * komplikace diagnóza chirurgie MeSH
- teratom * komplikace diagnóza chirurgie MeSH
- torze ovaria MeSH
- torzní deformity chirurgie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Atypical teratoid/rhabdoid tumor (ATRT) is an aggressive central nervous system tumor characterized by loss of SMARCB1/INI1 protein expression and comprises three distinct molecular groups, ATRT-TYR, ATRT-MYC and ATRT-SHH. ATRT-SHH represents the largest molecular group and is heterogeneous with regard to age, tumor location and epigenetic profile. We, therefore, aimed to investigate if heterogeneity within ATRT-SHH might also have biological and clinical importance. Consensus clustering of DNA methylation profiles and confirmatory t-SNE analysis of 65 ATRT-SHH yielded three robust molecular subgroups, i.e., SHH-1A, SHH-1B and SHH-2. These subgroups differed by median age of onset (SHH-1A: 18 months, SHH-1B: 107 months, SHH-2: 13 months) and tumor location (SHH-1A: 88% supratentorial; SHH-1B: 85% supratentorial; SHH-2: 93% infratentorial, often extending to the pineal region). Subgroups showed comparable SMARCB1 mutational profiles, but pathogenic/likely pathogenic SMARCB1 germline variants were over-represented in SHH-2 (63%) as compared to SHH-1A (20%) and SHH-1B (0%). Protein expression of proneural marker ASCL1 (enriched in SHH-1B) and glial markers OLIG2 and GFAP (absent in SHH-2) as well as global mRNA expression patterns differed, but all subgroups were characterized by overexpression of SHH as well as Notch pathway members. In a Drosophila model, knockdown of Snr1 (the fly homologue of SMARCB1) in hedgehog activated cells not only altered hedgehog signaling, but also caused aberrant Notch signaling and formation of tumor-like structures. Finally, on survival analysis, molecular subgroup and age of onset (but not ASCL1 staining status) were independently associated with overall survival, older patients (> 3 years) harboring SHH-1B experiencing relatively favorable outcome. In conclusion, ATRT-SHH comprises three subgroups characterized by SHH and Notch pathway activation, but divergent molecular and clinical features. Our data suggest that molecular subgrouping of ATRT-SHH has prognostic relevance and might aid to stratify patients within future clinical trials.
- MeSH
- gen SMARCB1 genetika metabolismus MeSH
- lidé MeSH
- metylace DNA MeSH
- nádory centrálního nervového systému * genetika MeSH
- neuroepitelové nádory * genetika MeSH
- prognóza MeSH
- proteiny hedgehog genetika metabolismus MeSH
- rhabdoidní nádor * genetika MeSH
- teratom * genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
Metastatické nádory varlat jsou relativně dobře léčitelné tumory reagující na chemoterapii na bázi platiny. Zejména v terapii seminomů po primární radikální orchiektomii převládá sledování reziduálních ložisek nebo podání chemoterapie před operačním řešením. Teratomy s malignitou somatického typu jsou ale tumory, které naopak operační léčbu vyžadují. Mohou se vyvinout u pacientů po předchozí terapii cisplatinou, a to jak u seminomů, tak non‐seminomů. Většinou nereagují na chemoterapii a jedinou možností na vyléčení je kompletní resekce všech ložisek tumoru.
Metastatic testicular tumors are relatively well treatable tumors that respond to platinum-based chemotherapy. Especially in the therapy of seminomas after primary radical orchiectomy, monitoring of residual masses and chemotherapy predominate before the surgical approach. However, teratomas with somatic-type malignancy are tumors that require surgical treatment. They may develop in patients with seminomas and non-seminomas after previous cisplatin therapy. They usually do not respond to chemotherapy and the only cure is a complete resection of tumor masses.
- MeSH
- akantamébová keratitida diagnóza etiologie patofyziologie terapie MeSH
- dědičné dystrofie rohovky klasifikace patofyziologie patologie terapie MeSH
- dědičné nemoci očí etiologie klasifikace patologie terapie MeSH
- dermoidní cysta klasifikace patologie terapie vrozené MeSH
- diferenciální diagnóza MeSH
- dítě MeSH
- keratitida etiologie klasifikace patofyziologie patologie terapie MeSH
- lidé MeSH
- nemoci rohovky * etiologie klasifikace patologie terapie vrozené MeSH
- nemoci skléry etiologie klasifikace patologie terapie MeSH
- oční infekce etiologie klasifikace patologie terapie MeSH
- přední segment oční abnormality MeSH
- rohovka abnormality anatomie a histologie MeSH
- skleritida diagnóza etiologie klasifikace patologie terapie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- Publikační typ
- přehledy MeSH
