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C3 glomerulopathy is a differentially, diagnostically newly defined rare clinical entity with poor prognosis. Symptomatology is variable, the diagnosis is based on the results of immunofluorescent evaluation of renal biopsy, and the disease is confirmed by genetic testing and complete examination of the complement system. The accumulation of isolated C3 deposits without antibodies is a key histological finding. We report two female patients with the same diagnosis and a relatively different course of disease. One patient is a heterozygous carrier of rare (p.A353V) and common (MCPggaac haplotype) mutation. [ABSTRACT FROM AUTHOR]

Úvod: Orální dlaždicobuněčný karcinom (oral squamous cell carcinoma – OSCC) je jednou z nejčastějších malignit ústní dutiny, která svojí incidencí figuruje celosvětově i v rámci naší země v první desítce četnosti všech malignit. Léčebný přístup je mezioborový, často multimodalitní. Důraz je kladen na radikální chirurgickou léčbu, zejména v časných stadiích. Selhání radikální operativy a ponechání části tumoru či nádorových buněk v těle nemocného je nejčastější příčinou lokální recidivy s možnými následky ve formě další progrese, ústící v systémovou diseminaci či lokálně nekontrolovatelný růst s fatálním koncem. Snahou moderní medicíny je co možná nejlépe preoperačně a peroperačně stanovit rozsah nádorových změn, a tím i vymezit zónu bezpečné resekce s cílem radikálního odstranění malignity. Cílem naší práce bylo zhodnotit vliv předoperačního vyšetření slizničního okraje karcinomu pomocí přirozené autofluorescence na možnost přesnějšího stanovení skutečného rozsahu slizničních nádorových změn, a tím i na zvýšení úspěšnosti chirurgické terapie. Metodika: Do naší studie bylo zařazeno 122 pacientů rozdělených prostou randomizací do dvou stejně početných skupin podobných vlastností, z čehož jedna skupina absolvovala předoperační autofluorescenční vyšetření (přístroj VELscope). Následně proběhla u obou skupin klasická chirurgická léčba s navazující standardizovanou histologickou evaluací resekátu. Stav resekčních okrajů byl následně porovnán u obou skupin. Výsledky: Ve zkoumané skupině bylo dosaženo patologicky čistých okrajů (pFM) v 55 případech, blízkých okrajů (pCM) v šesti případech a nezaznamenali jsme žádný případ pozitivního okraje (pPM). U kontrolní skupiny byla situace následující: pFM – 40, pCM – 14, pPM – 7. Závěr: Naše studie prokázala statisticky významný rozdíl v úspěšnosti chirurgické léčby u obou skupin a potvrdila hypotézu, že autofluorescence může zvýšit přesnost stanovení chirurgického okraje při léčbě OSCC. [ABSTRACT FROM AUTHOR]

Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare subtype of renal neoplasm predominantly affecting younger individuals. It is characterized by germline mutations in SDHx genes, particularly type B. Histologically, SDH-deficient RCC features eosinophilic cytoplasmic cells forming solid nests or microcysts, sometimes entrapping normal tubules. We present three SDH-deficient RCC cases with overlapping morphological features with fumarate hydratase-deficient RCC and TFEB-rearranged RCC, an appearance that has not been previously described. All tumors lacked SDHB expression and harbored pathogenic SDHB mutations, with the germline nature confirmed in two cases. Metastasis developed in two patients. Our case set highlights the diagnostic challenges of molecularly defined renal tumors and expands the morphological spectrum of SDH-deficient RCC with unusual histological features. Clinically, these tumors appear to be aggressive., Competing Interests: Declarations Ethical approval This retrospective study was conducted with the permission of the Regional and Institutional Human Medical Biological Research Ethics Committee, University of Szeged (No. 188/2019-SZTE), and the Scientific and Research Ethical Committee of Hungarian Scientific Council (ETT TUKEB, 49585/2–2019/EKU). The data reviewed were collected from patients as part of the routine standard of care; no diagnostic or therapeutic interventions were performed, and no patient contact was involved. Therefore, patient consent was not required in accordance with local or national guidelines. Conflict of interest The authors declare no competing interests., (© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Introduction: Combined immuno-oncology (IO) regimens are the cornerstone of the current front-line systemic therapy for metastatic renal cell carcinoma (mRCC). Despite the fact that combined IO regimens show high efficacy, they are often accompanied by a wide spectrum of immune-related adverse effects (irAEs)., Case Presentation: We describe a case of rare irAEs manifested as giant cell temporal arteritis (GCA) followed by severe encephalopathy occurring after continuing immunotherapy in a 66-year-old man with mRCC receiving a combination of ipilimumab and nivolumab in the first line of systemic therapy. GCA occurred 4 months after the initiation of IO and responded promptly to the low-dose prednisone therapy. Four months after the continuation of nivolumab maintenance, the patient was hospitalized due to severe irAE encephalopathy which presented as psycho-behavioral abnormalities and progressive cognitive decline. He was treated with high-dose methylprednisolone which led to complete resolution of the symptoms and IO was permanently discontinued. The patient achieved a durable partial response., Conclusion: Both GCA and the subsequent encephalopathy in our patient responded well to the corticosteroid therapy, leading to the complete resolution of the symptoms and the patient achieved a durable partial response. Although the risk of severe neurologic irAEs affecting the central nervous system induced by IO re-administration, following previous discontinuation due to irAE, is not well-defined because of their rarity, this case highlights the need for caution, particularly in cases with a history of previous irAE-associated GCA., Competing Interests: O.F. received honoraria from Novartis, Janssen, Merck, and Pfizer for consultations and lectures unrelated to this project. J.F. has received honoraria from Astra Zeneca, Roche, and Novartis for consultations and lectures unrelated to this project. M.H. received honoraria from Merck Sharp and Dohme for consultations and lectures unrelated to this project. M.T., K.P., J.B., P.S., and D.Š. declare that they have no conflicts of interest that might be relevant to the contents of this manuscript., (© 2024 The Author(s). Published by S. Karger AG, Basel.)

Background/objective: Hormone receptor (HR) status is one of the key factors in determining the treatment of breast cancer. Previous studies suggested that HR status may change in metastatic tissue. However, available studies focused mainly on primary biopsies and there are only few trials comparing HR status in the primary tumour and the metastasis using material from complete resection. The aim of the study was to determine the frequency of HR alterations in metastatic breast cancer., Materials and Methods: The study retrospectively examines a total of 50 patients who underwent brain, lung, or liver metastasectomy for metastatic breast cancer between January 2000 and January 2019., Results: HR conversion was observed in a total of 30 cases (60.0%), while HER-2/neu (human epidermal growth factor receptor 2) discrepancy surprisingly occurred only in one case (2.0%). A change in immunophenotype occurred in 28% of cases. Triple-negativity was more frequent in brain metastases (p = 0.039)., Conclusions: We have confirmed that HR conversion between the primary tumour and its metastases occurs in a significant number of cases, which has important implications for further treatment decisions., Competing Interests: Conflict of interest: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Greater Poland Cancer Centre.)

Introduction: Thanks to mammographic screening and the improvement of breast cancer diagnostics, the detection of precancers is also increasing. They are defined as morphological changes of the mammary gland which are more likely to cause cancer. The evaluated precancers are atypical ductal hyperplasia (ADH), lobular carcinoma in situ (LCIS) and radial scar., Methodology: In the period 1. 1. 2018-31. 12. 2022, we performed 1,302 planned operations for breast disease at the Surgical Clinic of Teaching Hospital Plzeň, of which 30 (2%) were precancer operations. ADH was confirmed 11×, LCIS 8×, and a radical scar 11×. The average age of the patients in all three groups was 56 years (27-85). Precancer was diagnosed 8× only by sonography, 3× by mammography and 19× by a combination of both methods. Subsequently, a puncture biopsy was always completed. We performed 28 tumor excisions with intraoperative biopsy and 2 mastectomies., Results: In the case of ADH from puncture biopsy, ADH was confirmed intraoperatively 8×, DCIS was diagnosed 2×, and mucinous carcinoma 1×. In LCIS, no tumor was found by intraoperative biopsy 4×, LCIS was confirmed 1×, lobular invasive carcinoma was diagnosed 1×, mastectomy was performed 2× without intraoperative biopsy. In the radial scar, ADH was diagnosed 3×, sclerosing adenosis 6×, DCIS 1×, invasive carcinoma 1×. After the final histological processing of the samples, there was an increase in diagnosed carcinomas. In ADH, DCIS was confirmed 3×, DIC 2×, and mucinous carcinoma 1×. In LCIS, LIC was diagnosed 3×. In the radial scar, DCIS was confirmed 1×, and invasive carcinoma remain 1×. Thus, carcinoma was diagnosed in 11 patients (37%) thanks to the surgical solution. No patient underwent axillary node surgery. All 11 patients subsequently underwent oncological treatment, always a combination of radiotherapy and hormone therapy. All patients are alive, 10 patients are in complete remission of the disease, one with DCIS experienced a local recurrence after 4 years., Conclusion: Surgical treatment of precancers of the breast makes sense, DCIS or even invasive cancer is often hidden in addition to precancer. Thanks to the surgical solution, the cancer was detected in time.

In our study, the effect of the use of autofluorescence (Visually Enhanced Lesion Scope-VELscope) on increasing the success rate of surgical treatment in oral squamous carcinoma (OSCC) was investigated. Our hypothesis was tested on a group of 122 patients suffering from OSCC, randomized into a study and a control group enrolled in our study after meeting the inclusion criteria. The preoperative checkup via VELscope, accompanied by the marking of the range of a loss of fluorescence in the study group, was performed before the surgery. We developed a unique mucosal tattoo marking technique for this purpose. The histopathological results after surgical treatment, i.e., the margin status, were then compared. In the study group, we achieved pathological free margin (pFM) in 55 patients, pathological close margin (pCM) in 6 cases, and we encountered no cases of pathological positive margin (pPM) in the mucosal layer. In comparison, the control group results revealed pPM in 7 cases, pCM in 14 cases, and pFM in 40 of all cases in the mucosal layer. This study demonstrated that preoperative autofluorescence assessment of the mucosal surroundings of OSCC increased the ability to achieve pFM resection 4.8 times in terms of lateral margins.

The 5th edition of WHO classification of the urinary tract tumors is only mildly edited version of the previous WHO classification (from year 2016). The most prominent changes are represented by modifications in the structure and concept of chapters and there are minor alterations in the nomenclature of some entities. Histological characteristics are still the gold standard for classification of urothelial tract neoplasms.

The 5th edition of WHO classification of adult renal tumors introduced a couple of changes in existing, well established entities, as well as some new distinct renal tumors. Papillary renal cell carcinoma (RCC) is no longer divided into type 1 and type 2. Type 1 is now called “classic” variant and type 2 doesn´t exist anymore. There were long discussion about problematic type 2. According to WHO 2022 the correct name is papillary RCC (and subtype/variant should be mentioned in the description). Another important change came for clear cell papillary RCC. Because there is no convincing evidence that genuine clear cell papillary RCC can produce recurrences or metastases, it is now termed as clear cell papillary tumor. All previously reported aggressive cases are now considered misclassified clear cell RCC (mostly) or other entities. In less typical cases, genetic support of diagnosis with complex analysis of VHL gene should be added. New category “other oncocytic tumors” emerged for tumors from gray zone between renal oncocytoma and chromophobe RCC. Term hybrid oncocytic tumor should be reserved for those with hereditary Birth-Hogg-Dubé syndrome. Emerging entities, like eosinophilic vacuolated tumor (EVT) and oncocytic low-grade tumor (LOT) are mentioned, however, more work is needed for better establishment of the criteria. There is a new category of “molecularly defined renal carcinomas”, where MITf translocation RCCs are divided into TFE3 rearranged RCC with fusion partner dependent morphologic variability, and to TFEB rearranged RCC. In this group, indolent TFEB translocated RCCs are recognized, as well as potentionally aggressive RCC with TFEB gene amplification. In WHO 2016, ALK rearranged RCC was considered as emerging entity. In WHO 2022 it is listed among “molecularly defined RCC” as a distinct renal tumor with broad morphologic spectrum dependent partly on fusion partners. ELOC (TCEB1) mutated RCC is renal tumor composed of clear cell elements and huge fibromyomatous stroma. Diagnostic approach should be complex with support of immunohistochemistry (including CK7) and molecular genetic approach. However, there is overlap with MTOR pathway genes mutated RCC with fibromyomatous stroma. SMARCB1 deficient renal medullary carcinoma is high-grade invasive adenocarcinoma in patients with clinically proved sickle-cell trait and SMARCB1 deficiency.

Background/aim: The aim of this study was to determine the importance of surgical treatment, utility of hormone receptor status and selected biomarkers in the prognosis of patients with liver metastases from breast cancer (BCLM)., Patients and Methods: Thirty female underwent surgery for BCLM between 1/2000 and 1/2019., Results: The type of surgery (resection/radiofrequency ablation) had no impact on overall survival (OS) - (p=0.894). Having more than one BCLM (p=0.003), expression of human epidermal receptor 2 in metastases (p=0.034), as well as an elevated presurgical level of carbohydrate antigen 19-9 (p=0.017) and postsurgical thymidine kinase (p=0.034) were negative prognostics factor for recurrence-free survival. The factors affecting OS included the number of liver procedures (p=0.021), the degree of proliferative activity (p=0.008) and elevated postsurgical carcinoembryonic antigen level (p=0.038)., Conclusion: The type of surgery had no impact on OS. Markers and hormonal status of liver metastases are important factors affecting prognosis., (Copyright© 2021, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.)

The diagnosis of prostatic adenocarcinoma is based on a combination of histological features, none of which is absolutely sensitive and specific. Immunohistochemical examination is therefore sometimes necessary in difficult cases for confirmation of the diagnosis and distinction of mimickers. The second major indication of immunohistochemical staining in prostatic pathology is metastatic prostatic adenocarcinoma.

Tento přehledový článek stručně shrnuje možnosti využití imunohistochemie při vyšetřování především renálních karcinomů a základní molekulárně genetické znaky vybraných neoplázií. Článek však v žádném případě nelze brát jako univerzální návod pro diagnostiku renálních tumorů. Renální karcinomy dokážou mít velmi variabilní morfologický vzhled a to i v rámci jedné léze (nádorová heterogenita) a často velmi nepředvídatelný a neuniformní imunohistochemický profil. Některé renální neoplázie jsou diagnostikovány striktně na podkladě molekulárně-genetických vlastností, bez ohledu na morfologický vzhled.

There is no ideal marker or established immunohistochemistry panel to confirm urothelial differentiation. Immunohistochemistry must be always indicated in concrete differential diagnostic consideration. In this review article, immunohistochemistry will be discussed in the three different settings - distinction of benign and malignant changes of urothelium, the most frequent pitfalls and non-urothelial neoplasms of urinary tract.

Urine cytology is used for detection of neoplastic cells in urine. It has high sensitivity and specificity in detection high-grade urothelial carcinoma, but it is low sensitive in detection of low-grade carcinoma. Different classification systems were published in the past, need for a more standardized terminology results in Paris System for Reporting Urine cytology. This classification was published in 2016, and it is based on clear diagnostic criteria. Implementation of The Paris System will lead to global standardization and uniformity of urine cytology reports.

Hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinoma (HLRCC)/ fumarate hydratase deficient renal cell carcinoma (FHRCC) is an aggressive tumor defined by molecular genetic changes - alteration in fumarate hydratase (FH) gene. The morphologic spectrum of HLRCC/FHDRCC is remarkably variable. The presence of large nuclei and prominent dark red inclusion-like nucleoli and perinucleolar clearing are considered as helpful morphologic clue. We selected 23 renal neoplasms primarily based on their morphologic features suspicious for HLRCC/FHDRCC. Morphological, basic immunohistochemical, and genetic analysis was performed. The tumors were divided in two groups according to the molecular genetic findings. The first group included 13 tumors with detected FH mutation/LOH (compatible with diagnosis FHRCC), and the second group included 10 tumors without FH mutation/LOH (FH-like RCCs). In the FHRCC group, the vast majority of cases (9/13) had mixed morphology with different architectural growth patterns. All cases showed prominent macronucleoli, and perinucleolar clearing was found in 10/13 cases. Immunohistochemically, 6/7 FHRCC cases were negative for FH antibody, while one case showed strong diffuse FH reactivity. The FH-like RCC group showed more uniform architectural growth pattern. All 10 tumors had prominent macronucleoli, and perinucleolar clearing was present in 8/10 cases. Eight FH-like RCC cases showed diffuse strong positivity for FH, although 2 cases were completely negative for FH. It is evident that neither morphologic feature nor immunohistochemical analysis can be reliably used in routine practice for the diagnosis of HLRCC/FHRCC. In suspected cases, the diagnosis of HLRCC/FHRCC can be confirmed by molecular-genetic testing for FH mutation. It should be noted that the traditionally described morphologic features of HLRCC/FHRCC (prominent eosinophilic macronuclei with perinucleolar halos) can frequently be seen in other renal neoplasms.