We report on 51-year-old woman who presented with brown discharge and postcoital bleeding due to myoma nascens-like polypoid mass distending cervical canal. Histologically, the tumor consisted of high-grade spindle cell component with up to 15 mitotic figures per 10 HPF and also low-grade leiomyoma-like areas with focal myxoid change and so far undescribed cytoplasmic signet ring cell change. Immunohistochemically Desmin, actin, and h-caldesmon were negative. Conversely, BCOR positive expression was coupled with Cyclin D1 positivity and was antibody clone dependent. The molecular NGS and FISH study identified reciprocal fusion gene ZC3H7B-BCOR. In conclusion, these findings further support the idea of routine reflex molecular testing of uterine mesenchymal tumors with unusual clinical presentation or in case malignancy is suspected. Lastly, we suggest ZC3H7B-BCOR rearranged high-grade endometrial stromal sarcoma might be considered as a tumor suitable for BCL6-targeted treatment.
- MeSH
- endometriální stromální sarkom genetika patologie MeSH
- karcinom z prstenčitých buněk diagnóza patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- nádorové biomarkery genetika MeSH
- nádory dělohy patologie MeSH
- nádory endometria genetika patologie MeSH
- proteiny vázající RNA metabolismus MeSH
- protoonkogenní proteiny genetika metabolismus MeSH
- represorové proteiny metabolismus MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- MeSH
- adenokarcinom * MeSH
- infekce papilomavirem * MeSH
- lidé MeSH
- nádory děložního čípku * MeSH
- Papillomaviridae * MeSH
- reprodukovatelnost výsledků MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- dopisy MeSH
- komentáře MeSH
OBJECTIVE: The aim of this study was to assess the significance of bizarre cells (cells of squamous origin with a superficial squamous cell-type cytoplasm and characterised by multinucleation that produces bizarre nuclear shapes) in liquid-based cytology (LBC) Papanicoaou (pap) smears with clinical and histological follow-up correlation. METHODS: Fifteen patients, all with LBC samples containing bizarre cells, were identified in routine ThinPrep® LBC workload. HPV testing was performed in each case using residual LBC material. Cytological-histological correlations were reviewed. RESULTS: All 15 LBC samples contained bizarre cells and tested positive for high-risk HPV types. Ten of the 15 cases were identified as atypical squamous cells - cannot exclude an HSIL (ASC-H) with secondary diagnosis of low-grade squamous intraepithelial lesion (LSIL), while five cases were identified as high-grade squamous intraepithelial lesion (HSIL), and a subsequent biopsy was recommended. Additionally, 13/15 cases underwent cone biopsy or hysterectomy within 1-11 months, of which 10 showed histologically confirmed HSIL end-points. LSIL was present in three cases. Bizarre cells were identified in the HSIL epithelium of five cone biopsies. CONCLUSIONS: Identification of bizarre cells in LBC is straightforward and may facilitate diagnosis. The cytology of bizarre cells is associated with HSIL in cone biopsies. We recommend assigning LBC samples containing bizarre cells as ASC-H with secondary diagnosis of LSIL.
Oncocytic papillary renal cell carcinoma (PRCC) is a distinct subtype of PRCC, listed as a possible new variant of PRCC in the 2016 WHO classification. It is composed of papillae aligned by large single-layered eosinophilic cells showing linearly arranged oncocytoma-like nuclei. We analyzed clinicopathologic, morphologic, immunohistochemical and molecular-genetic characteristics of 11 oncocytic PRCCs with prominent tumor lymphocytic infiltrate, morphologically resembling Warthin's tumor. The patients were predominantly males (8/11, 73%), with an average age of 59years (range 14-76), and a mean tumor size of 7cm (range 1-22cm). Tumors had the features of oncocytic PRCCs with focal pseudostratification in 8/11 cases and showed dense stromal inflammatory infiltration in all cases. Papillary growth pattern was predominant, comprising more than 60% of tumor volume. Tubular and solid components were present in 5 and 3 cases, respectively. Uniform immunohistochemical positivity was found for AMACR, PAX-8, MIA, vimentin, and OSCAR. Tumors were mostly negative for carboanhydrase 9, CD117, CK20, and TTF-1. Immunohistochemical stains for DNA mismatch repair proteins MLH1 and PMS2 were retained in all cases, while MSH2 and MSH6 were negative in 1 case. Tumor infiltrating lymphocytes (TILs) consisted of both B and T cells. Chromosomal copy number variation analysis showed great variability in 5 cases, ranging from a loss of one single chromosome to complex genome rearrangements. Only one case showed gains of chromosomes 7 and 17, among other aberrations. In 4 cases no numerical imbalance was found. Follow up data was available for 9 patients (median 47.6months, range 1-132). In 6 patients no lethal progression was noted, while 3 died of disease. In conclusion, Warthin-like PRCC is morphologically very close to oncocytic PRCC, from which it differs by the presence of dense lymphoid stroma. Chromosomal numerical aberration pattern of these tumors is variable; only one case showed gains of chromosomes 7 and 17. Warthin-like PRCC is a potentially aggressive tumor since a lethal outcome was recorded in 3/9 cases.
- MeSH
- genetická predispozice k nemoci MeSH
- genetické testování metody MeSH
- hybridizace in situ fluorescenční metody MeSH
- imunohistochemie metody MeSH
- karcinom z renálních buněk diagnóza genetika patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- nádorové biomarkery analýza MeSH
- nádory ledvin diagnóza genetika patologie MeSH
- oxyfilní adenom genetika patologie MeSH
- papilární karcinom genetika patologie MeSH
- senioři MeSH
- variabilita počtu kopií segmentů DNA genetika MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
