We present a rare case of malignant rhabdoid tumor (ovarian small cell carcinoma of hypercalcemic type) in a 24-year-old female with fulminant course. Clinically, hypercalcemia was not found at the time of primary diagnosis. However, it appeared later during the course of tumor progression. Histologically, the tumor showed classical features of small cell carcinoma of hypercalcemic type. Therapy included radical surgery with adjuvant chemotherapy. Despite this intensive therapy, the disease recurred and the patient died 10 months after the diagnosis. We discuss the diagnosis and therapy of this tumor, as well as its recent classification as malignant rhabdoid tumor.

• Klíčová slova
• Chemotherapy, Immunohistochemistry, Malignant rhabdoid tumor, Ovarian cancer, Small cell carcinoma of hypercalcemic type,
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

BACKGROUND: Oncological diseases have, in most cases, a multifactorial etiology, composed of a combination of external and internal environmental factors. Hereditary tumorous syndromes are mostly autosomal dominant diseases with incomplete but very high penetrance. OBSERVATION: The patient, an 18-year-old virgin female, consulted a gynecologist in June 2018 because of metrorrhagia. Magnetic resonance imaging revealed a cervical tumor with the dimensions 80 × 90 × 80 mm. Histological analysis confirmed the presence of a very rare hypercalcemic type of small-cell carcinoma of the cervix. Further investigation of the germinal exom of the patient showed pathological variations in genes PALB2 and BRCA2, presented with recommendation of detailed examination by medical genetics. CONCLUSION: Clinical experience with this type of tumor is very limited, but it still comes with some useful outcome. Small cell carcinomas of the gynecologic tract are very rare, aggressive diseases, with very poor prognosis, affecting mainly young women. Their origin is most often the ovaries, based on most clinical data, but these tumor also localize to the endometrium, cervix, vagina and vulva. It is an extremely rare type of cancer, for which clinical data is scant due to the extremely low number of reported cases. In this patient, the carcinoma had an unusual genetical mutation burden, which she inherited from her parents. In the light of these findings, we recommend that patients suspected of having a small-cell of the gynecologic tract provide a detailed family history, and that genetic testing be considered in similar cases. This work was supported by MH CR grant 16-33209A and research program of Charles University Progress Q40/06. 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: 10. 6. 2019 Accepted: 9. 9. 2019.

• Klíčová slova
• PALB2, BRCA2 mutation, hereditary neoplastic syndromes, rare cervical cancer, small-cell carcinoma, hypercalcemic type, whole exome sequencing,
• MeSH
• hyperkalcemie diagnostické zobrazování   genetika   patologie   MeSH
• lidé MeSH
• magnetická rezonanční tomografie MeSH
• malobuněčný karcinom diagnostické zobrazování   genetika   patologie   MeSH
• mladiství MeSH
• mutace MeSH
• nádory děložního čípku diagnostické zobrazování   genetika   patologie   MeSH
• protein BRCA2 genetika   MeSH
• protein FANCN genetika   MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• BRCA2 protein, human MeSH Prohlížeč
• PALB2 protein, human MeSH Prohlížeč
• protein BRCA2 MeSH
• protein FANCN MeSH

Small cell carcinoma of the ovary (SCCOHT) is a rare tumor typically affecting young women. It is a highly malignant tumor accompanied with poor prognosis, early relapse and low survival rates. The most significant prognostic factor is stage of the disease. Due to above mentioned factors there are no guidelines for therapy of this rare tumor. We present a case of 22-years-old patient initially treated with antibiotics under diagnosis of pelvic inflammatory disease. Due to persistent mass at left adnexa, she was indicated for diagnostic laparoscopy, converted to laparotomy and left adnexectomy with frozen section revealing unspecified malignant tumor of left ovary. A conservative operation was performed and, after diagnosis of SCCOHT was established, the patient was indicated for adjuvant chemotherapy.

• Klíčová slova
• SCCOHT - conservative surgery - chemotherapy.,
• MeSH
• diferenciální diagnóza MeSH
• dospělí MeSH
• hyperkalcemie * MeSH
• kombinovaná terapie MeSH
• lidé MeSH
• malobuněčný karcinom diagnóza   diagnostické zobrazování   terapie   MeSH
• nádory vaječníků diagnóza   diagnostické zobrazování   terapie   MeSH
• ovarektomie MeSH
• ultrasonografie MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH

Small cell carcinoma of hypercalcemic type (SCCOHT) is a rare gynaecological neoplasm, originating mostly in the ovaries. Cervical origin of this very aggressive malignancy with unknown histogenesis is an extremely rare condition, without published management recommendations. Alterations in SMARCA4 gene are supposed to play the major role in SCCOHT oncogenesis and their identification is crucial for the diagnosis. Adequate genetic counselling of the patients and their families seems to be of great importance. Optimal management and treatment approaches are not known yet but may extremely influence the prognosis of young female patients that suffer from this very resistant disease. Nowadays, a translational research seems to be the key for the further diagnostic and treatment strategies of SCCOHT. The purpose of the case report is to provide practical information and useful recommendations on the diagnosis, management, and treatment of SMARCA4-deficient carcinoma of the uterine cervix resembling SCCOHT.

• Klíčová slova
• case report, cervical cancer, diagnostic biomarker, gynecological cancer, high-risk, personalized treatment, predictive marker,
• MeSH
• DNA-helikasy nedostatek   genetika   MeSH
• fatální výsledek MeSH
• hyperkalcemie diagnóza   genetika   metabolismus   terapie   MeSH
• jaderné proteiny nedostatek   genetika   MeSH
• lidé MeSH
• malobuněčný karcinom diagnóza   genetika   metabolismus   terapie   MeSH
• mladiství MeSH
• mutace MeSH
• nádorové biomarkery nedostatek   genetika   MeSH
• nádory děložního čípku diagnóza   genetika   metabolismus   terapie   MeSH
• transkripční faktory nedostatek   genetika   MeSH
• Check Tag
• lidé MeSH
• mladiství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• kazuistiky MeSH
• Názvy látek
• DNA-helikasy MeSH
• jaderné proteiny MeSH
• nádorové biomarkery MeSH
• SMARCA4 protein, human MeSH Prohlížeč
• transkripční faktory MeSH

Dedifferentiated and undifferentiated ovarian carcinomas (DDOC/UDOC) are rare neoplasms defined by the presence of an undifferentiated carcinoma. In this study, we detailed the clinical, pathological, immunohistochemical, and molecular features of a series of DDOC/UDOC. We collected a multi-institutional cohort of 23 DDOC/UDOC and performed immunohistochemistry for core switch/sucrose nonfermentable (SWI/SNF) complex proteins (ARID1A, ARID1B, SMARCA4, and SMARCB1), mismatch repair (MMR) proteins, and p53. Array-based genome-wide DNA methylation and copy number variation analyses were performed on a subset of cases with comparison made to a previously reported cohort of undifferentiated endometrial carcinoma (UDEC), small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), and tubo-ovarian high-grade serous carcinoma (HGSC). The age of all 23 patients with DDOC/UDOC ranged between 22 and 71 years (with an average age of 50 years), and a majority of them presented with extraovarian disease (16/23). Clinical follow-up was available for 19 patients. Except for 2 patients, the remaining 17 patients died from disease, with rapid disease progression resulting in mortality within a year in stage II-IV settings (median disease-specific survival of 3 months). Eighteen of 22 cases with interpretable immunohistochemistry results showed loss of expression of core SWI/SNF protein(s) that are expected to result in SWI/SNF complex inactivation as 10 exhibited coloss of ARID1A and ARID1B, 7 loss of SMARCA4, and 1 loss of SMARCB1. Six of 23 cases were MMR-deficient. Two of 20 cases exhibited mutation-type p53 immunoreactivity. Methylation profiles showed coclustering of DDOC/UDOC with UDEC, which collectively were distinct from SCCOHT and HGSC. However, DDOC/UDOC showed an intermediate degree of copy number variation, which was slightly greater, compared with SCCOHT but much less compared with HGSC. Overall, DDOC/UDOC, like its endometrial counterpart, is highly aggressive and is characterized by frequent inactivation of core SWI/SNF complex proteins and MMR deficiency. Its molecular profile overlaps with UDEC while being distinct from SCCOHT and HGSC.

• Klíčová slova
• ARID1B, SMARCA4, SMARCB1, SWI/SNF, methylation, undifferentiated ovarian carcinoma,
• MeSH
• dědičné nádorové syndromy * MeSH
• DNA-helikasy genetika   metabolismus   MeSH
• dospělí MeSH
• epiteliální ovariální karcinom MeSH
• jaderné proteiny genetika   MeSH
• karcinom * patologie   MeSH
• kolorektální nádory * MeSH
• lidé středního věku MeSH
• lidé MeSH
• malobuněčný karcinom * MeSH
• mladý dospělý MeSH
• nádorové biomarkery genetika   metabolismus   MeSH
• nádorový supresorový protein p53 genetika   MeSH
• nádory endometria * patologie   MeSH
• nádory mozku * MeSH
• nádory vaječníků * genetika   patologie   MeSH
• senioři MeSH
• transkripční faktory genetika   metabolismus   MeSH
• variabilita počtu kopií segmentů DNA MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladý dospělý MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• DNA-helikasy MeSH
• jaderné proteiny MeSH
• nádorové biomarkery MeSH
• nádorový supresorový protein p53 MeSH
• SMARCA4 protein, human MeSH Prohlížeč
• transkripční faktory MeSH