INTRODUCTION: Sacrococcygeal teratoma (SCT) is the most common congenital tumor. The incidence of malignant types is rare but increases with late detection or in case of relapse. Prenatal diagnosis is based on ultrasound examination and magnetic resonance imaging (MRI). Since this is a rare congenital anomaly, we should report all cases to improve prenatal diagnosis and postnatal management. MATERIAL AND METHODS: Retrospective analysis of sixteen cases of sacrococcygeal teratoma delivered and treated at the University Hospital Brno between 2005 and 2020. The following criteria were evaluated: gestational week of the primary diagnosis, exact description of ultrasound findings, pregnancy management, delivery mode, correlation of prenatal ultrasound with postnatal findings in the newborn, as well as the occurrence of early and late complications in newborns and children. RESULTS: Out of sixteen cases, seven cases (43.8%) were indicated for pregnancy termination based on ultrasound findings, the parent's decision, and an estimation of an adverse pregnancy outcome. In nine cases (56.2%), the pregnancy continued and was ended by delivery. In one case, there was an early postnatal death of a newborn after birth in the 25th week of gestation. In eight cases, live fetuses were born in which the tumor was surgically removed between day 1 and 14 months after birth. There was a strong correlation between the tumor description made by prenatal ultrasound diagnosis and related severe complications in newborns. The incidence of severe early and late complications in ongoing pregnancies was very low-only one case of infection in the surgical wound requiring reoperation (12.5%) was described. In two patients (25%), a transient stoma establishment was necessary for secondary ileus. One case of recurrence of the disease at two years of age occurred, requiring the administration of chemotherapy (12.5%), and one patient has mild persistent urinary incontinence. CONCLUSION: Sacrococcygeal teratoma is one of the rarest congenital malformations. A detailed prenatal ultrasound examination is essential to estimate the pregnancy prognosis. The most predictive ultrasound predictor of favorable early and late postnatal outcomes and long-term child development is the presence of cystic sacrococcygeal formation, the most common tumor type, and the absence of signs of cardiac failure due to fetal anemia. In these cases, with early surgical treatment provided, the incidence of severe complications and long-term consequences in children is very low, and parents should be informed during prenatal counseling. It is necessary to register all the SCT cases due to the rarity of this congenital anomaly for further statistical analysis of the importance of ultrasound markers.

Sacrococcygeal teratoma (SCT) is a type of tumor that develops at the base of the spine in newborns. It is the most common congenital tumor. While most SCTs are not cancerous, malignant types do exist. The risk of malignancy increases if SCTs are detected late or if there is a relapse. Doctors can identify SCTs before birth using various imaging techniques: ultrasound examination and magnetic resonance imaging (MRI). The primary treatment for SCT is complete surgical removal of the tumor. Early detection and timely intervention are crucial for better outcomes. We analyzed fifteen cases of SCT treated at the Department of Obstetrics and Gynecology and the Department of Pediatrics, University Hospital Brno, between 2005 and 2020. We evaluated factors such as gestational week of diagnosis, ultrasound findings, pregnancy management, delivery mode, and correlations between prenatal and postnatal findings. Complications in newborns and children were also assessed.

• Klíčová slova
• Congenital tumor, Prenatal counseling, Prenatal diagnosis, Prognosis, Sacrococcygeal teratoma, Ultrasound,
• MeSH
• dospělí MeSH
• gestační stáří MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• novorozenec MeSH
• prognóza MeSH
• retrospektivní studie MeSH
• sakrokokcygeální krajina * diagnostické zobrazování   MeSH
• těhotenství MeSH
• teratom * diagnostické zobrazování   chirurgie   vrozené   MeSH
• ultrasonografie prenatální * MeSH
• výsledek těhotenství MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

: Sacrococcygeal teratoma is a rare congenital malformation, the prognosis depends on factors affecting foetal development. The diagnosis is based on ultrasound examination, especially the evaluation of the detailed morphology of the foetus in the 20th week of pregnancy. Therefore, it is crucial to keep looking for ultrasound markers that would prenatally determine the most accurate prognosis for the foetus. Now, we rely on a small number of studies with a predominance of case reports. We offer a literature review of the essential information concerning sacrococcygeal teratoma diagnostics, therapy, and complications of sacrococcygeal teratomas in connection with prenatal diagnosis. It turns out that in cases with a favourable prognosis according to prenatal ultrasound examination and adequate surgical treatment after childbirth, the prognosis of this congenital malformation is excellent.

• Klíčová slova
• Prognosis, foetal tumours, heart failure, prenatal diagnosis, sacrococcygeal teratoma, ultrasound,
• MeSH
• lidé MeSH
• prognóza MeSH
• sakrokokcygeální krajina * diagnostické zobrazování   MeSH
• těhotenství MeSH
• teratom * diagnostické zobrazování   diagnóza   chirurgie   MeSH
• ultrasonografie prenatální * MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

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
• Názvy látek
• DNA-helikasy MeSH
• gen SMARCB1 MeSH
• jaderné proteiny MeSH
• SMARCA4 protein, human MeSH Prohlížeč
• tazemetostat MeSH Prohlížeč
• transkripční faktory 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.

• Klíčová slova
• Cord herniation, Dermoid, Dysraphism, Spinal anaesthesia, Spinal cord tumour, Thoracic,
• 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

Cystic trophoblastic tumor (CTT) is a rare non-aggressive germinative neoplasm from the group of non-choriocarcinomatous trophoblastic tumors, which is presented by cystic spaces lined with mononuclear degenerative-looking trophoblastic cells. CTT has been most often described as a residual disease in dissected retroperitoneal lymph nodes of patients with metastatic germ cell testicular tumours after chemotherapy. There were published only sporadic cases of primary testicular mixed germ cell tumour with CTT component. Hereby, the authors present a case of a 22-year-old man with a mixed germ cell tumour composed of postpubertal teratoma, embryonal carcinoma and CTT. Immunohistochemically, the CTT tumour cells were positive for cytokeratins (AE1/AE3, CK8/18), GATA3, p63 and focally also for beta-hCG and alpha-inhibin. CTT may be presented as a rare component of primary testicular mixed germ cell tumour and it represents very likely an evolutionary intermediate stage of transition from choriocarcinoma into teratoma during the process of regression.

• Klíčová slova
• cystic trophoblastic tumour, germ cell tumour, immunohistochemistry, testis,
• MeSH
• dospělí MeSH
• germinální a embryonální nádory * MeSH
• lidé MeSH
• mladý dospělý MeSH
• těhotenství MeSH
• teratom * MeSH
• testikulární nádory * farmakoterapie   patologie   MeSH
• trofoblastické nádory * patologie   sekundární   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Compared to the WHO classification of the male genital tumors in 2016, minimal changes were introduced in the current WHO 2022. Classification of germ cell tumors remains the same as in the previous edition, dividing germ cell tumors into those derived from germ cell neoplasia in situ (GCNIS) and those independent of GCNIS. The group of GCNIS derived germ cell tumors is essentially unchanged. Most remarkable change was made to the chapter teratoma with somatic malignancy. Primitive neuroectodermal tumor (PNET), a particular type of somatic malignancy arising in the setting of teratoma, is currently termed embryonic-type neuroectodermal tumor (ENET). Diagnostic criteria for teratoma with somatic type malignancy have been mildly modified. Seminoma now belongs to the group of germinomas. There is one novel entity in the category of germ cell tumors independent of GCNIS, namely testicular neuroendocrine tumor, prepubertal type. Similar to other organ systems, the term carcinoid is no longer used. Two new entities were introduced in the category of sex cord stromal tumors: myoid gonadal stromal tumor and signet ring stromal tumor. Diagnostic criteria for malignant sex cord stromal tumors were moderately changed. Mitotic activity is now assessed according to mm2 instead of historical assessment according to the number of mitoses per high power fields. There is a new separate chapter named Genetic tumor syndromes. Intratubular large cell hyalinizing Sertoli cell neoplasia which arises exclusively in patients with Peutz-Jeghers syndrome, now belongs here. Large cell calcifying Sertoli cell tumor occurs as a hereditary tumor in patients with Carney complex as well as sporadically. Therefore, it is enlisted both in the chapter on sex cord tumors and as well as in genetic tumor syndromes. Well differentiated papillary mesothelial tumor was added as a new entity to the section of testicular adnexal tumors. Sertoliform cystadenoma, a tumor previously belonging to testicular adnexal tumors, is currently recognized as a subtype of Sertoli cell tumor.

• Klíčová slova
• WHO classification 2022, testicular tumors, testis, tumors of the testis,
• MeSH
• germinální a embryonální nádory * MeSH
• gonadální stromální nádory * patologie   MeSH
• lidé MeSH
• nádor ze Sertoliho buněk * MeSH
• Světová zdravotnická organizace MeSH
• teratom * MeSH
• testikulární nádory * genetika   patologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články 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.

• Klíčová slova
• Cyst of parotid gland, Dermoid cyst, Parotid gland disease,
• 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.

• Klíčová slova
• adnexal torsion, ovarian teratoma, premenarchal girl, surgery,
• MeSH
• dítě MeSH
• lidé MeSH
• nádory vaječníků * komplikace   diagnóza   chirurgie   MeSH
• teratom * komplikace   diagnóza   chirurgie   MeSH
• torze ovaria 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.

• Klíčová slova
• ASCL1, Atypical teratoid/rhabdoid tumor, DNA methylation profiling, GFAP, Gene expression, Neuroradiology, OLIG2, Overall survival, Prognosis, Sonic hedgehog,
• 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
• práce podpořená grantem MeSH
• Názvy látek
• gen SMARCB1 MeSH
• proteiny hedgehog MeSH
• SHH protein, human MeSH Prohlížeč

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.

• Klíčová slova
• growth hormone deficiency, medullary thyroid carcinoma, multiple endocrine neoplasia type 2B, ovarian teratoma,
• 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
• Názvy látek
• protoonkogenní proteiny c-ret MeSH
• růstový hormon MeSH