Autoři popisují případ nodulární syfilis s očním postižením u 69letého imunokompetentního heterosexuálního muže. Diagnóza sekundární syfilis byla potvrzena sérologicky, histologicky a imunohistochemicky s použitím protilátky proti T. pallidum. Oční vyšetření potvrdilo luetickou uveitidu, vyšetření likvoru vyloučilo neurosyfilis. Po intravenózní 14denní léčbě krystalickým penicilinem došlo k úplnému zhojení kožních i očních změn. Autoři uvádí přehled současných poznatků o tomto onemocnění.
The authors describe a case of nodular syphilis with ocular involvement in a 69-year-old immunocompetent heterosexual man. The diagnosis of secondary syphilis was confirmed serologically, histologically and immunohistochemically using T. pallidum antibody. Eye examination confirmed luetic uveitis, examination of cerebrospinal fluid ruled out neurosyphilis. After intravenous 14-day treatment with crystalline penicillin, the skin and eye changes completely healed. The authors present an overview of the current knowledge about this disease.
- MeSH
- imunohistochemie metody MeSH
- lidé MeSH
- senioři MeSH
- syfilis kožní * diagnóza patofyziologie terapie MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- kazuistiky MeSH
BACKGROUND: Soft tumors of the penis are extremely rare in childhood and adolescence. Because there are no guidelines, each such case raises embarrassment over the extent and degree of aggressiveness of the diagnostic and therapeutic procedures. Herein, we describe a case of a teenager with a penile myointimoma along with a review of the literature. So far, only 10 cases have been reported in this age group. CASE PRESENTATION: The 15-year-old boy presented with a 6-months history of a slowly growing, palpable firm nodule in glans penis. Physical examination revealed a palpable, well circumscribed, firm, whitish painless mass, around 1 cm in diameter within the glans. Ultrasound revealed hypoechogenic, hypoperfused poorly defined area inside the glans. MRI did not confirm any other pathologic mass inside the glans and corpora cavernosa. An excisional biopsy was performed; its immunohistological features indicated myointimoma. DISCUSSION AND CONCLUSION: Given the rarity of this benign entity, the main importance is to distinguish myointioma from more clinically aggressive neoplasms. The key to a correct diagnosis is a careful histological examination, including immunohistochemistry. Local excision is safe and effective treatment modality.
- MeSH
- biopsie MeSH
- imunohistochemie MeSH
- lidé MeSH
- mladiství MeSH
- nádory penisu * diagnostické zobrazování chirurgie MeSH
- penis diagnostické zobrazování chirurgie patologie MeSH
- výsledek terapie MeSH
- Check Tag
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- přehledy MeSH
Cellular leiomyoma (CL) represents an uncommon variant of uterine leiomyoma with limited data concerning its immunohistochemical and molecular profile. We performed a comprehensive analysis of 52 CL cases all of which were analyzed immunohistochemically. Molecular analysis was possible in 32 cases with sufficient DNA, and 38 cases with sufficient RNA. The immunohistochemical results showed a high expression of smooth muscle markers (calponin (100%), desmin (100%), smooth muscle actin (98.1%), caldesmon (96.1%), transgelin (96.1%), smooth muscle myosin heavy chain (86.5%), and smoothelin (61.5%)). Concerning markers of endometrial stromal differentiation, the expression of CD10 was observed in 65.4% cases (42.2% with H-score > 50), and IFITM1 in 36.5% cases (1.9% with H-score > 50). 36.5% showed HMGA2 overexpression at the IHC level, associated with increased mRNA expression in 14/14 cases. The rearrangement of the HMGA2 gene was detected in 13.2%. Chromosome 1p deletion was found in 19.3%, while 9.4% of tumors showed a pathogenic mutation in the MED12 gene. In conclusion, CL is immunohistochemically characterized by a high expression of "smooth muscle" markers commonly associated with a co-expression of "endometrial stromal" markers, where IFITM1 shows superior performance compared to CD10 regarding its specificity for differentiation from endometrial stromal tumors. The sensitivity of smoothelin in CL seems rather low, but no data is available to assess its specificity. On a molecular level, the most common mutually exclusive aberration in CL affects HMGA2, followed by chromosome 1p deletions and MED12 mutations.
- MeSH
- chromozomy chemie metabolismus MeSH
- leiomyom * patologie MeSH
- lidé MeSH
- mediátorový komplex genetika metabolismus MeSH
- mutace MeSH
- nádory dělohy * patologie MeSH
- nádory endometria * genetika MeSH
- neprilysin analýza MeSH
- protein HMGA2 MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
This is a case report of a rare finding of an extragonadal yolk sac tumor in a 37-year-old patient who presented with shortness of breath and abdominal bloating. During imaging and staging surgery, the findings were strongly suggestive of an extragonadal advanced tumor presenting with peritoneal dissemination, predominantly affecting omentum, with no clear primary origin. Histology revealed an extragonadal yolk sac tumor in a pure form outside the ovaries. Lacking an obvious origin elsewhere, the tumor was highly suspected to have truly originated from the omentum. The patient underwent surgery and four cycles of chemotherapy consisting of cisplatin, etoposide, and bleomycin. One-year outpatient follow-up thereafter showed no relapse. We herein discuss a possible site of the tumor origin and its development, as well as diagnostic challenges and disease prognosis.
- Publikační typ
- kazuistiky MeSH
Hodnocení tumor infiltrujících lymfocytů (TIL) nabývá u řady nádorových onemocnění na důležitosti v souvislosti nejen s ohledem na prognózu, ale i na jejich prediktivní význam. Jedním z nádorů, u kterého má hodnocení TIL kromě stanovení prognózy i potenciální dopad na modifikaci léčebných postupů, je karcinom prsu, zejména jeho tzv. triple negativní a HER2 pozitivní varianta. Cílem následujícího sdělení je podat přehled problematiky hodnocení TIL u karcinomu prsu se zaměřením nejen na praktické uplatnění tohoto hodnocení, ale zejména na metodické aspekty hodnocení a reportování výsledků.
Evaluation of tumor infiltrating lymphocytes (TIL) is gaining importance in many cancers not only because of their prognostic, but also predictive significance. One of the tumors in which the evaluation of TIL is of prognostic importance and has potential predictive impact on the modification of treatment procedures is breast cancer, especially its so-called triple negative, and HER2 positive variants.The aim of this review is to provide an overview of the issue of TIL evaluation in breast cancer, focusing not only on the clinical significance of this evaluation, but especially on the methodological aspects of evaluation and standardized reporting of the results.
- MeSH
- lidé MeSH
- nádory prsu * diagnóza MeSH
- prognóza MeSH
- receptor erbB-2 MeSH
- triple-negativní karcinom prsu * MeSH
- tumor infiltrující lymfocyty MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- přehledy MeSH
Secretory carcinoma (SC) is a relatively recently described salivary gland adenocarcinoma characterized by ETV6-NTRK3 gene fusion and, in most cases, indolent clinical behavior. Morphologically, the tumor shows a glandular architecture and the presence of monophasic tumor cells with vacuolated cytoplasm, low-grade nuclear atypia, and mucin production, with possibly a tubular, papillary, or cystic arrangement. In this article, we describe a case of a 52-year old man with SC involving a neck lymph node clinically manifesting as a slowly growing cystic neck mass without recent proof of the primary tumor, but with a history of a parotid gland "cystadenopapilloma," which had been removed 35 years prior. A fine-needle aspiration biopsy revealed a diagnosis of SC. Subsequent histopathological examination after lymph node dissection confirmed the diagnosis. The tumor showed typical features of SC, including immunohistochemical positivity for NTRK and NTRK3 gene rearrangement, detected using in situ hybridization. We discuss that the tumor may be a late metastasis occurring 35 years after resection of undiagnosed salivary SC or a primary SC arising from heterotopic salivary tissue within a lymph node. Differential diagnostic considerations and review of relevant literature are included.
- MeSH
- cysty diagnóza metabolismus patologie MeSH
- cytodiagnostika metody MeSH
- karcinom diagnóza metabolismus patologie MeSH
- krk patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- lymfatické uzliny metabolismus patologie MeSH
- nádorové biomarkery genetika MeSH
- nádory slinných žláz diagnóza metabolismus patologie MeSH
- tenkojehlová biopsie metody MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Cílem následujícího sdělení je podat přehled využití imunohistochemických metod v diagnostice mezenchymálních nádorů dělohy. Diskutována je zejména problematika týkající se stanovení hladkosvalové diferenciace, diferenciální diagnostiky mezi hladkosvalovými a endometriálními stromálními nádory adiagnostika zánětlivého myofibroblastického nádoru. Kromě toho je zmíněn význam imunohistochemických vyšetření v diagnostice poměrně recentně definovaných jednotek, jako je YWHAE alterovaný high grade endometriální stromální sarkom (HG-ESS), BCOR alterovaný HG-ESS, nádory s NTRK fúzí a SMARCA4 deficientní sarkomy. Posledním aspektem je rozbor významu imunohistochemických metod při stanovení biologické povahy leiomyocelulárních nádorů. U jednotek s výskytem rekurentních molekulárních aberací je také zmíněna problematika jejich molekulární klasifikace.
The goal of this manuscript is to provide a comprehensive overview of the use of immunohistochemical methods in diagnosing mesenchymal tumours of the uterus. The main points discussed include, especially, the issue of determining smooth muscle differentiation, the differential diagnosis between smooth muscle and endometrial stromal tumours, and the diagnosis of inflammatory myofibroblastic tumour. The role of immunohistochemical examination in the diagnosis of some of the only recently definedentities such as YWHAE-altered high grade endometrial stromal sarcoma (HG-ESS), BCOR-altered HG-ESS, tumours with NTRK fusion, and SMARCA4-deficient sarcomas is also discussed. The last aspect of this work is an analysis of the significance of immunohistochemical methods in the determination of the biological behaviour of leiomyocellular tumours. The issue of their molecular classification for those lesions associated with the presence of recurrent molecular aberrations is also discussed.
- MeSH
- diferenciální diagnóza MeSH
- endometriální stromální sarkom diagnóza genetika MeSH
- imunohistochemie MeSH
- leiomyosarkom diagnóza genetika MeSH
- lidé MeSH
- nádory dělohy * diagnóza genetika MeSH
- nádory ze svalové tkáně * diagnóza genetika MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- práce podpořená grantem MeSH
- přehledy MeSH
Leiomyoma with bizarre nuclei (LBN) is an uncommon variant of uterine smooth muscle neoplasm. Involvement of fumarate hydratase (FH) has been suggested in the pathogenesis of a subset of LBN. The goal of our study is to assess the clinicopathological, morphological, immunohistochemical and molecular findings focusing on FH in LBNs (n = 108) and compare it with the findings in usual leiomyomas (UL; n = 50) and leiomyosarcomas (LMS; n = 42). Immunohistochemically, loss of FH expression was found in 67/108 of LBN, 1/50 of UL and in no LMS. Class 4/5 FH mutations were detected in 15/53 LBN with sufficient DNA quality for molecular analysis. Pathogenic variants of the FH gene were detected in neither UL nor LMS. Local recurrence after surgery was present in 18/92 of LBN patients, 7 of which were histologically verified and 2 of which were found to be LBN. Our results confirmed that LBN behave in a benign fashion, although they may relapse. FH gene mutations were a common finding only in LBN, but not in UL and LMS. Immunohistochemistry with an antibody against FH seems to have a good sensitivity (87%) and moderate specificity (58%) with regard to predicting FH gene mutations and could be used as a screening method in tumors with features suggestive of FH alterations to identify patients who are at risk for the FH aberrations.
- MeSH
- buněčné jádro patologie MeSH
- dospělí MeSH
- fumarasa genetika MeSH
- leiomyom genetika patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mutace MeSH
- nádorové biomarkery genetika MeSH
- nádory dělohy 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
BACKGROUND: Mesonephric-like adenocarcinoma (M-LAC) is a rare, recently described tumor occurring in the uterine corpus and ovary, which shares the same morphological and immunohistochemical features with the more common mesonephric adenocarcinoma (MAC), which mostly arises the uterine cervix. Despite the similarities between these tumors, the histogenesis of M-LAC is still disputable. CASE PRESENTATION: Sixty-one-year-old woman presented with an advanced tumor of the left ovary with intraabdominal spread and liver metastases. After receiving 5 cycles of neoadjuvant chemotherapy, she underwent a hysterectomy with bilateral salpingo-oophorectomy, and resection of the liver metastasis, omentum, and appendix. Histologically, the ovarian tumor consisted of two components, whose morphology and immunohistochemical results were typical of either a serous borderline tumor (immunohistochemical positivity for PAX8, WT1, ER and PR) or a mesonephric-like carcinoma (immunohistochemical positivity for PAX8, TTF1 and GATA3). Only the component of the mesonephric-like adenocarcinoma metastasized to the omentum and liver. A molecular analysis with a panel of 271 genes (size 1020 kbp) was performed separately on samples from the borderline tumor, primary ovarian mesonephric-like adenocarcinoma, and liver metastasis. The results showed the clonal origin of all samples, which shared the same KRAS (NM_004985.3:c.34G > T, p.(G12C)) and PIK3CA (NM_006218.2:c.1633G > A, p.(E545K)) somatic mutations. Moreover, in the sample from the primary mesonephric-like carcinoma and its liver metastasis a likely pathogenic somatic MYCN mutation (NM_005378.4:c.131C > T, p.(P44L) was found. In all samples, the deletion of exons 9-10 in the CHEK2 gene was present, which is in concordance with the previously performed genetic testing of the blood specimen which revealed the hereditary CHEK2 mutation in this patient. CONCLUSIONS: Our result support the theory that at least some mesonephric-like ovarian adenocarcinomas are of Müllerian origin. The serous borderline tumor seems to be a precursor of mesonephric-like adenocarcinoma, which has been proven in our case by both tumors sharing the same mutations, and the presence of cumulative molecular aberrations in the mesonephric-like adenocarcinoma.
- MeSH
- adenokarcinom diagnóza patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mezonefrom patologie MeSH
- nádorové biomarkery analýza MeSH
- nádory dělohy diagnóza patologie MeSH
- nádory vaječníků diagnóza patologie MeSH
- ovarium patologie MeSH
- prekancerózy patologie MeSH
- serózní cystadenom diagnóza patologie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
Cíl studie: Cílem studie byla analýza klinických výsledků pacientek, které podstoupily myomektomii jakožto fertilitu zachovávající operaci a byla u nich zjištěna diagnóza leiomyomu s bizarními jádry (LBJ). Typ studie: Retrospektivní klinická studie. Název a sídlo pracoviště: Gynekologicko-porodnická klinika VFN a 1. LF UK, Praha. Metodika: V naší databázi byly vyhledány pacientky, u nichž byla v období od ledna 2002 do června 2017 provedena myomektomie s histologickým závěrem LBJ. Analyzovali jsme jejich klinická data získaná z lékařské dokumentace a korespondence s pacientkami. Výsledky: Nalezeno bylo celkem 37 pacientek splňujících vstupní kritéria. Medián věku pacientek byl 34,0 let. Celkem 30 pacientek (81,1 %) podstoupilo operaci laparoskopickou, sedm (18,9 %) žen myomektomii laparotomickou. Peroperační vzhled myomu byl hodnocen jako typický ve 27 případech (73,0 %), v ostatních případech byl popsán jako abnormální či atypický. Klinická a reprodukční data z dalšího sledování byla získána od 35 žen, medián délky sledování byl 48 měsíců. U devíti pacientek (25,8 %) byla nutná další intervence pro myomy, přičemž ve dvou případech (22,2 %) byl nález histologicky hodnocen opět jako LBJ. Podíl žen, kterým se v celém souboru podařilo otěhotnět (pregnancy rate), byl 63,6 % a frekvence žen s živě narozeným dítětem (life birth rate) byl 33,3 %. Nezaznamenali jsme žádný případ vzdálené recidivy, maligní rekurence či úmrtí spojeného s diagnózou LBJ. Závěr: Operace zachovávající dělohu u pacientek s LBJ se zdá jako bezpečná a racionální terapie u žen s přáním zachování fertility.
Objective: The aim of this study was to analyse the clinical outcome of patients with diagnosis of leiomyoma with bizarre nuclei (LBN) undergoing uterus saving surgery due to fertility preservation. Design: Retrospective clinical study. Setting: Department of Obstetrics and Gynaecology, First Faculty of Medicine, Charles University, General University Hospital, Prague. Methods: This was a retrospective clinical study of patients with LBN diagnosis after myomectomy between January 2002 and June 2017 which were searched in our database. The data were obtained from medical documentation and from correspondence with patients. Results: We identified 37 patients meeting the criteria in our database. The median age of the patients was 34.0 years. 30 patients (81.1%) underwent laparoscopic procedure, 7 (18.9.%) had open myomectomy. The perioperative appearance of fibroid was found normal in 27 cases (73.0%), in the rest the appearance was described somehow abnormal. The follow-up data were obtained from 35 women; the median follow-up time was 48 months. 9 patients (25.7%) needed re-intervention for fibroids with 2 specimens (22.2%) classified as LBN again. The overall pregnancy rate was 63.6% and life birth rate was 33.3%. We did not observe any distant recurrence of the disease or malignant recurrence or death related to the diagnosis. Conclusion: Uterus sparing surgery for treatment of LBN seems to be safe and reasonable therapy for women wishing to preserve fertility.
- Klíčová slova
- leiomyom s bizarními jádry, atypický leiomyom,
- MeSH
- dospělí MeSH
- leiomyom patofyziologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- myomektomie * metody MeSH
- retrospektivní studie MeSH
- zachování plodnosti MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- ženské pohlaví MeSH
- Publikační typ
- práce podpořená grantem MeSH
