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1.
Clin Exp Med ; 24(1): 192, 2024 Aug 14.
Article in English | MEDLINE | ID: mdl-39141194

ABSTRACT

Telomerase reverse transcriptase promoter (TERTp) mutations are frequently targeted tumor markers, however, they reside in regions with high GC content, which poses challenges when examined with simple molecular techniques or even with next-generation sequencing (NGS). In bladder cancer (BC), TERTp mutations are particularly frequent, however, none of the available tools have demonstrated efficacy in detecting TERTp mutations via a simple noninvasive technique. Therefore, we developed a novel PCR-based method for the detection of the two most common TERTp mutations and demonstrated its use for the analysis of BC samples. The developed SHARD-PCR TERTp mutation detection technique requires PCR and restriction digestion steps that are easily implementable even in less well-equipped laboratories. Cell lines with known mutational status were utilized for method development. Matching urine and tumor tissue samples from BC patients were analyzed, and the results were validated by next-generation sequencing. Analysis of eighteen urine and corresponding tumor tissue samples by SHARD-PCR revealed perfect matches in sample pairs, which paralleled the corresponding NGS results: fourteen samples exhibited mutations at the -124 position, two samples showed mutations at the -146 position, and no mutations were detected in two samples. Our study serves as a proof-of-concept and is limited by its small sample size, nonetheless, it demonstrates that SHARD-PCR is a simple, economic and highly reliable method for detecting TERTp mutations, which are common in different cancer types. For bladder cancer, SHARD-PCR can be performed with the use of noninvasive samples and could replace or complement currently used techniques.


Subject(s)
Mutation , Polymerase Chain Reaction , Promoter Regions, Genetic , Telomerase , Urinary Bladder Neoplasms , Humans , Urinary Bladder Neoplasms/genetics , Urinary Bladder Neoplasms/diagnosis , Telomerase/genetics , Polymerase Chain Reaction/methods , Male , Female , High-Throughput Nucleotide Sequencing/methods , Aged , Middle Aged , DNA Mutational Analysis/methods , Biomarkers, Tumor/genetics , Cell Line, Tumor
2.
Virchows Arch ; 485(3): 583-588, 2024 Sep.
Article in English | MEDLINE | ID: mdl-38990362

ABSTRACT

Thyroid-like follicular renal cell carcinoma (TLFRCC), an emerging subtype of renal cell carcinoma, presents diagnostic challenges due to its resemblance to normal thyroid tissue. Here, we report a rare case of TLFRCC in a pediatric patient, a demographic rarely affected by this subtype. Histologically resembling a typical TLFRCC, our case exhibited unique features including post-neuroblastoma development, occurrence in a male teenager, and diffuse MelanA expression, which has not been previously reported in TLFRCC. Comprehensive genomic profiling revealed the EWSR1::PATZ1 fusion, confirming its genetic basis. Due to the advanced tumor stage, the patient received combined immunotherapy, and after a 9-month follow-up, remains tumor-free. Our case broadens the diagnostic spectrum of pediatric renal cell carcinomas, highlighting the importance of comprehensive molecular profiling in rare subtypes such as TLFRCC. Further research is needed to better understand TLFRCC's genetic landscape and optimize therapeutic strategies, especially in pediatric populations with evolving treatment protocols.


Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Neuroblastoma , Humans , Male , Kidney Neoplasms/genetics , Kidney Neoplasms/pathology , Kidney Neoplasms/diagnosis , Carcinoma, Renal Cell/genetics , Carcinoma, Renal Cell/pathology , Adolescent , Neuroblastoma/genetics , Neuroblastoma/pathology , Neuroblastoma/diagnosis , Biomarkers, Tumor/genetics , Gene Expression Profiling , Thyroid Neoplasms/genetics , Thyroid Neoplasms/pathology
3.
Magy Onkol ; 68(2): 143-153, 2024 Jul 16.
Article in Hungarian | MEDLINE | ID: mdl-39013088

ABSTRACT

Prostate cancer stands as the most prevalent malignant tumor among men; with its incidence increasing with advancing age. The spectrum of patient care options for this disease is broad, encompassing approaches such as "active surveillance," definitive radiation therapy, robot-assisted surgery, among others. These diverse modalities afford opportunities for cure or successful management in the majority of cases. It is paramount to underscore that optimal treatment hinges upon a multidisciplinary framework, wherein the coordinated efforts of allied healthcare professionals yield the highest standard of patient care. Hence, it is imperative for pathologists to keep abreast of contemporary processing and specimen collection protocols, as well as the potential necessity of supplementary investigations and their clinical significance. The latest Hungarian guideline on prostate cancer care features a dedicated chapter delineating the pivotal role and responsibilities of pathologists. Through this discourse, we aim to consolidate and disseminate pertinent insights, thereby fostering the continuing enhancement of pathologists' knowledge and elucidating the intricacies of histological processing to our clinical counterparts.


Subject(s)
Prostatic Neoplasms , Specimen Handling , Humans , Male , Prostatic Neoplasms/pathology , Prostatic Neoplasms/surgery , Hungary , Biopsy/standards , Biopsy/methods , Specimen Handling/standards , Specimen Handling/methods , Prostate/pathology , Prostate/surgery , Pathologists , Prostatectomy/methods , Practice Guidelines as Topic
4.
Histopathology ; 2024 Jul 29.
Article in English | MEDLINE | ID: mdl-39075659

ABSTRACT

AIMS: Urothelial carcinoma (UC) demonstrates significant molecular and histologic heterogeneity. The WHO 2022 classification has hinted at adding molecular signatures to the morphologic diagnosis. As morphology and associated molecular repertoire may potentially translate to choices of and response to therapy and relapse rate, broader acceptability of recognizing these key features among uropathologists is needed. This prompted an international survey to ascertain the practice patterns in classical/subtype UC among uropathologists across the globe. METHODS AND RESULTS: A survey instrument was shared among 98 uropathologists using SurveyMonkey software. Anonymized respondent data were analysed. The response rate was 85%. A majority were in concordance with the profiles of luminal (93%) and basal (82%) types. Opinion on the FGFR3 testing platform was variable. While 95% concurred that TERT promoter mutation is the key driver in UC, 72% had the opinion that APOBEC mutagenesis is the main signature in muscle invasive bladder cancer (MIBC). Uropathologists have divergent opinions on MIBC and ERCC2 mutations. Among the participants, 94% would quantify aggressive micropapillary and sarcomatoid histology, while 88% would reevaluate another transurethral resection of the bladder tumour specimen in nonmuscle invasive tumour with micropapillary, small cell, or sarcomatoid histology. A leading number agreed to specific molecular signatures of micropapillary (93%), plasmacytoid (97%), and small cell (86%) subtypes. Ninety-six percent of participants agreed that a small-cell component portends a more aggressive course and should be treated with neoadjuvant chemotherapy and 63% would perform HER2/neu testing only on oncologist's request in advanced tumours. Ninety percent agreed that microsatellite instability testing, although not a standard protocol, should be considered in young patients with upper tract UC. Eighty-six percent agreed that UC with high tumour mutational burden would be a better candidate for immunotherapy. CONCLUSION: In the era of precision medicine, enhanced understanding of molecular heterogeneity of UC will contribute to better therapeutic options, novel biomarker discovery, innovative management protocols, and outcomes. Our survey provides a broad perspective of pathologists' perceptions and experience regarding incorporation of histomolecular approaches to "personalize" therapy. Due to variable clinical adoption, there is a need for additional data using uniform study criteria. This will drive generation of best practice guidelines in this area for widespread and consistent clinical utility.

5.
Virchows Arch ; 2024 Jun 20.
Article in English | MEDLINE | ID: mdl-38902365

ABSTRACT

Angiosarcoma (AS) of the breast, a rare mesenchymal neoplasm, exhibits distinct forms based on etiological and genetic features. While cases with typical clinical presentation and morphology allow for a straightforward diagnosis, challenges arise when clinical data are scarce, diagnostic material is limited, or morphological characteristics overlap with other tumors, including undifferentiated carcinomas. The trichorhinophalangeal syndrome protein 1 (TRPS1), once regarded as highly specific for breast carcinomas, now faces doubts regarding its reliability. This study explores TRPS1 expression in breast AS. Our investigation revealed that 60% of AS cases displayed TRPS1 labeling, contrasting with the 40% lacking expression. Scoring by four independent readers established a consensus, designating 12/35 ASs as unequivocally TRPS1-positive. However, uncertainty surrounded nine further cases due to a lack of reader agreement (being substantial as reflected by a kappa value of 0.76). These findings challenge the perceived specificity of TRPS1, shedding light on its presence in a noteworthy proportion of breast ASs. Consequently, the study underscores the importance of a comprehensive approach in evaluating breast ASs and expands the range of entities within the differential diagnosis associated with TRPS1 labeling.

6.
Diagn Pathol ; 19(1): 85, 2024 Jun 21.
Article in English | MEDLINE | ID: mdl-38907257

ABSTRACT

BACKGROUND: Human pulmonary dirofilariasis (HPD) is rare in Hungary, and it stems from Dirofilaria immitis, mainly transmitted through mosquito bites, with dogs as primary hosts. Despite its prevalence in veterinary settings, human cases are infrequent. Historically, Mediterranean countries report most HPD cases, but sporadic cases occur in temperate European regions. Radiologically, HPD often manifests in a non-specific manner, resembling pulmonary neoplasms, leading to unnecessary surgery and patient distress. METHODS: This study presents a notable case series from Hungary, encompassing a 12-year period, documenting 5 instances of HPD with the aim to provide baseline estimate of occurrence for future comparison. RESULTS: Among the patients studied, all were of middle age (median: 52 years, range: 37-69) and exhibited tumor-like lesions, primarily localized to the right lung, necessitating lobectomy or wedge resection. Histological examination consistently revealed a necrotizing granulomatous response characterized by remnants of helminths, without the presence of ovules. Furthermore, rigorous diagnostic procedures excluded other potential infectious agents through specialized staining techniques. Polymerase chain reaction analysis definitively confirmed the diagnosis of HPD in each case. CONCLUSIONS: This case series highlights HPD as a seldom zoonosis, with a probable escalation in its occurrence within temperate regions. Therefore, clinicians should maintain a heightened awareness of HPD in the differential diagnosis of pulmonary coin lesions. Early recognition and diagnosis are paramount for appropriate management and prevention of potential complications associated with this increasingly recognized infectious entity.


Subject(s)
Dirofilariasis , Lung Diseases, Parasitic , Humans , Dirofilariasis/diagnosis , Dirofilariasis/epidemiology , Dirofilariasis/parasitology , Dirofilariasis/pathology , Hungary/epidemiology , Middle Aged , Male , Adult , Female , Animals , Aged , Lung Diseases, Parasitic/epidemiology , Lung Diseases, Parasitic/parasitology , Lung Diseases, Parasitic/diagnosis , Dirofilaria immitis/isolation & purification , Lung/parasitology , Lung/pathology
7.
Pathobiology ; : 1-7, 2024 Apr 04.
Article in English | MEDLINE | ID: mdl-38574478

ABSTRACT

INTRODUCTION: Colorectal tubular adenomas displaying clear cell change are rare entities, with unknown clinical relevance, prognosis, immunohistochemical, and molecular features. CASE PRESENTATION: Hereby we report a case of a 43-year-old female patient with a rectosigmoid polyp. Histologically, conventional dysplasia was visible with scattered areas displaying clear cell change. Whole-exome sequencing (WES) was carried out and revealed high tumour mutation burden and 7 pathogenic mutations, including TP53, APC, FGFR4, EHBP1, IL4R, TYR, and ACTN3. CONCLUSION: Clear cell change may only be present in less than 0.1% of adenomas. Aetiology is not well understood; additionally, few authors suggest autolysis or fixation problems. Our WES resulted in newly found pathogenic mutations, and high mutation burden, proving the lesion's neoplastic origin. Hitherto, neither special stainings nor immunohistochemical markers proved to be useful in the diagnostic process. From a differential diagnostic perspective, enteroblastic differentiation, primary and secondary clear cell adenocarcinoma has to be excluded.

8.
Diagn Pathol ; 19(1): 24, 2024 Jan 31.
Article in English | MEDLINE | ID: mdl-38297323

ABSTRACT

BACKGROUND: Follicular dendritic cell sarcoma (FDCS) is a rare low-grade tumor of the lymph nodes, but roughly one-third of the cases emerge from extranodal sites, posing diagnostic challenges. CASE PRESENTATION: In this report, we present the case of a 59-year-old lady who complained of renal colic. During investigation, a kidney tumor was discovered. A radical nephrectomy was performed, and histological examination identified the tumor as a sarcomatoid renal cell carcinoma. The case was then referred to a genitourinary pathologist for further evaluation. The tumor cells exhibited positive staining for CD21, CD23, somatostatin receptor 2 A, and MDM2 expression. Additionally, MDM2 gene amplification was confirmed by the FISH study. Ultimately, the tumor was diagnosed as a primary renal FDCS. The patient was placed under active oncological surveillance and did not receive any further therapy. Remarkably, after 91 months of follow-up, she remains tumor-free. CONCLUSION: This case represents a well-documented primary renal FDCS. Our aim in presenting this extremely rare tumor is to enhance awareness and highlight the importance of considering FDCS in the differential diagnosis.


Subject(s)
Dendritic Cell Sarcoma, Follicular , Kidney Neoplasms , Female , Humans , Middle Aged , Dendritic Cell Sarcoma, Follicular/diagnosis , Dendritic Cell Sarcoma, Follicular/genetics , Lymph Nodes/pathology , Kidney/pathology , Kidney Neoplasms/diagnosis , Kidney Neoplasms/genetics , Kidney Neoplasms/pathology
11.
Orv Hetil ; 164(41): 1637-1641, 2023 Oct 15.
Article in Hungarian | MEDLINE | ID: mdl-37987705

ABSTRACT

Myxoinflammatory fibroblastic sarcoma (MIFS) is a rare, low-grade, painless tumor of mesenchymal origin. In the current, 5th edition of the World Health Organisation (WHO) 'Classification of tumors: Soft tissue and bone tumors', there is no exact diagnostic genetic alteration defined in MIFS. Hereby we present the case of a 71-year-old female patient, with a medical history of benign essential hypertension, who visited the hospital because of a lesion above her right shin. She perceived the lesion 1.5 years prior to the medical attendance, and she only attended the medical facility because of the development of pain, erosion and papule formation on the skin surface. Microscopically, the lesion had cellular and pleomorphic appearance with nodular structure, and showed honeycomb-like infiltration of the subcutaneous fat tissue. Tumor cell infiltration was visible among the collagen fibers of the dermis. Tumor cells frequently displayed multinuclear morphology with prominent, viral inclusion-like nucleoli and exuberant fibrillary, often vacuolated and ground-glass cytoplasm. With immunohistochemical examination, tumor cells showed multifocal positivity with CD34, CD31, podoplanin (D2-40), cyclin D1, and epithelial membrane antigen (EMA). Furthermore, the tumor cells proved to be diffusely positive with smooth muscle actin (SMA). After meeting all the essential criteria of the current WHO classification, the case was concluded as MIFS, showing high-grade features. According to our experience, an immunohistochemistry panel of podoplanin, ciklin-D1, CD10, EMA, CD34, and CD31 can facilitate the correct conclusion. Our case of MIFS highlights the unusual, focally high-grade features of this complicated, challenging disease. Diffuse SMA positivity is a known, but uncommon feature of these tumors. Orv Hetil. 2023; 164(41): 1637-1641.


Subject(s)
Sarcoma , Skin Neoplasms , Humans , Female , Aged , Lower Extremity , Skin Neoplasms/diagnosis
12.
Orv Hetil ; 164(40): 1567-1582, 2023 Oct 08.
Article in Hungarian | MEDLINE | ID: mdl-37987709

ABSTRACT

Urothelial cell carcinoma is the most common malignant tumor of the urinary tract, which develops in the renal pelvis, ureter, and bladder, and rarely it develops in the ureter. Histologically, urothelial cell carcinoma is categorized into non-invasive and invasive forms. Non-invasive urothelial cell carcinoma has papillary growth, it is usually well differentiated, and has a favorable outcome, while invasive urothelial cell carcinoma infiltratively spreads the organs of origin, it is typically poorly differentiated, and often associated with a poor prognosis. In the case of invasive urothelial cell carcinoma, the clinical course is primarily determined by the depth of invasion, but according to recent data, morphological variants of urothelial cell carcinoma respond differently to oncological treatments, and their biological behavior is also distinct. These subtypes and variants are significantly underdiagnosed in Hungary and internationally because the criteria for histological diagnosis are not clear for many subsets. The latest 2022 WHO classification of urinary tract tumors significantly clarified the definitions of various subtypes and variants. In this paper, utilizing the current classification, we review and explain these subtypes' morphological, immunohistochemical, differential diagnostic, prognostic, and predictive characteristics intending to make them appear as much as possible in everyday diagnostic practice. Also, the work aims to present the individual urothelial cell carcinoma subtypes and variants to the Hungarian community of pathologists, oncologists, and urologists, so that the previously high level of urological oncology care can become even more personalized. Orv Hetil. 2023; 164(40): 1567-1582.


Subject(s)
Carcinoma, Transitional Cell , Urinary Bladder Neoplasms , Humans , Urinary Bladder , Hungary , Medical Oncology
13.
Diagn Pathol ; 18(1): 117, 2023 Oct 28.
Article in English | MEDLINE | ID: mdl-37898793

ABSTRACT

BACKGROUND: Penile melanoma (PM) is a rare tumor, accounting for less than 2% of all penile cancers. PM can occur on the surface of the glans, foreskin, and opening of the urethra. Furthermore, PM primarily affects older individuals and is not associated with sun exposure. Currently, there is no specific staging system for genitourinary tract melanomas, so these tumors are typically staged using the criteria for cutaneous melanoma. Limited data in the literature suggests that PM generally has a poor clinical prognosis. CASE PRESENTATION: Here, we describe two cases of PM. The first case affected a 62-year-old male who presented with hematuria and a painful tumor in the distal urethra, leading to a suspicion of penile cancer. The second case involved a 68-year-old male who noticed a rapidly evolving dark spot on his foreskin. Histological analysis confirmed the presence of melanoma in both patients. The tumors showed a diffuse and strong PRAME-positivity and lacked BRAF mutation in both cases. Additionally, the second tumor harbored an activating CKIT mutation. An enhanced PD-L1 expression was observed in both tumors. CONCLUSIONS: We presented two rare forms of mucosal melanoma and highlighted the entities in the differential diagnosis. Based on our experience PRAME is a helpful marker for making the diagnosis of PM, and PD-L1 can predict the success of the immunotherapy. We also emphasize the need for an organ-specific staging system for PMs.


Subject(s)
Melanoma , Penile Neoplasms , Skin Neoplasms , Male , Humans , Middle Aged , Aged , Melanoma/genetics , Melanoma/pathology , Skin Neoplasms/genetics , Skin Neoplasms/pathology , Penile Neoplasms/diagnosis , Penile Neoplasms/pathology , B7-H1 Antigen , Antigens, Neoplasm
14.
Int J Mol Sci ; 24(10)2023 May 15.
Article in English | MEDLINE | ID: mdl-37240139

ABSTRACT

Wilms' tumor (WT) is the most common renal malignancy in children. In diffuse hyperplastic perilobar nephroblastomatosis (DHPLN), nephrogenic rests result in a bulky enlargement of the kidney, a condition considered as a premalignant state before WT. Despite relevant clinical differences between WT and DHPLN, they are often challenging to distinguish based on histology. Molecular markers would improve differential diagnosis, but none are available at present. In our study, we investigated the potential of microRNAs (miRNAs) as such biomarkers, also aiming to shed light on the chronological order of expression changes. Formalin-fixed, paraffin-embedded (FFPE) samples from four DHPLN cases and adjacent healthy tissues were tested using a PCR array containing primers for 84 miRNAs implicated in genitourinary cancer. Expression in DHPLN was compared to WT data available in dbDEMC. Let-7, miR-135, miR-146a-5p, miR-182-5p, miR-183-5p, miR-20b-3p, miR-29b-3p, miR-195-5p and miR-17-5p showed potential to be used as biomarkers to distinguish WT and DHPLN in cases when traditional differential diagnosis is inconclusive. Our study also revealed miRNAs which may play a role in the initial steps of the pathogenesis (at a precancerous stage) and ones which become deregulated later in WT. More experiments are needed to confirm our observations and find new candidate markers.


Subject(s)
Kidney Neoplasms , MicroRNAs , Wilms Tumor , Child , Humans , MicroRNAs/genetics , MicroRNAs/metabolism , Diagnosis, Differential , Wilms Tumor/diagnosis , Wilms Tumor/genetics , Kidney Neoplasms/diagnosis , Kidney Neoplasms/genetics , Kidney Neoplasms/metabolism , Kidney/metabolism , Hyperplasia/pathology
15.
Hum Pathol ; 138: 34-40, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37209922

ABSTRACT

It is acknowledged that nephron develops after bilateral induction of the metanephric mesenchyma and branching ureteric bud (UB), and that nephrogenic rest and Wilms' tumor (nephroblastoma) arises from impaired differentiation of metanephric blastema. The aim of this study was to obtain more information on the involvement of UB derivatives in nephrogenic rest and Wilms' tumor. We applied immunohistochemistry to analyze nephrogenic rests and Wilms' tumors with mixed histology, including regressive and blastemal types. We used antibodies recognizing UB tip cells (ROBO1, SLIT2, RET), principal cells (AQP2), α- and ß-intercalated cells (SLC26A4, SLC4A1, ATP6V1B1, ATP6V0D2), and their precursors (CA2). Tubules surrounded by tumorous blastemal cells resembling UB tip were positive for RET, ROBO1, and SLIT2 in Wilms' tumor. Moreover, CA2-positive tubular structures and ATP6V1B1- and ATP6V0D2-positive immature non-α- and non-ß-intercalated cells were detected in nephrogenic rest and Wilms' tumor. We suggest that Wilms' tumor is more than nephroblastoma and propose a definition that Wilms tumor is a malignant embryonal neoplasm derived from pluripotential cells of nephrogenic blastema and of ureteric bud tip.

16.
Virchows Arch ; 482(5): 861-868, 2023 May.
Article in English | MEDLINE | ID: mdl-37012444

ABSTRACT

The lack of oestrogen receptor, progesterone receptor and human epidermal growth factor receptor-2 expression in breast cancer (BC) is the basis for the categorization of the tumour as triple negative breast carcinoma (TNBC). The majority of TNBCs are aggressive tumours with common metastases and decreased expression of markers that could help in identifying the metastatic lesion as of mammary origin. Breast markers, such as gross cystic disease fluid protein-15 (GCDPF-15), GATA binding protein 3 (GATA3), mammaglobin (MGB) and SOX10, are not uniquely specific to BC. Our aim was to evaluate trichorhinophalangeal syndrome type 1 (TRPS1) protein as a breast marker in a series of cytokeratin-5-expressing TNBC, mostly corresponding to basal-like TNBCs, previously characterized for the expression of other breast markers. One hundred seventeen TNBCs in tissue microarrays were immunostained for TRPS1. The cut-off for positivity was ≥ 10%. The reproducibility of this classification was also assessed. TRPS1 positivity was detected in 92/117 (79%) cases, and this exceeded the expression of previously tested markers like SOX10 82 (70%), GATA3 11 (9%), MGB 10 (9%) and GCDFP-15 7 (6%). Of the 25 TRPS1-negative cases, 11 were positive with SOX10, whereas 5 to 6 dual negatives displayed positivity for the other makers. The evaluation showed substantial agreement. Of the five markers compared, TRPS1 seems the most sensitive marker for the mammary origin of CK5-expressing TNBCs. Cases that are negative are most often labelled with SOX10, and the remainder may still demonstrate positivity for any of the 3 other markers. TRPS1 has a place in breast marker panels.


Subject(s)
Breast Neoplasms , Triple Negative Breast Neoplasms , Humans , Female , Triple Negative Breast Neoplasms/pathology , Biomarkers, Tumor/metabolism , Breast Neoplasms/diagnosis , Keratin-5/metabolism , Reproducibility of Results , Mammaglobin A/metabolism , Carrier Proteins , GATA3 Transcription Factor/metabolism , Repressor Proteins/metabolism
17.
Magy Onkol ; 67(1): 7-17, 2023 Apr 22.
Article in Hungarian | MEDLINE | ID: mdl-37086452

ABSTRACT

Renal cell carcinoma (RCC) is the most common malignant kidney tumor. It is not a single entity but an umbrella term for several distinct tumor types. The most prevalent and clinically significant subtype of RCC is clear cell carcinoma, which consists of cells with empty cytoplasm. These tumor cells harbor biallelic loss of the VHL gene, resulting in a pseudohypoxic state that promotes angiogenesis and cellular proliferation. Papillary RCC and chromophobe carcinoma are also common subtypes, with the former displaying a papillary appearance and cMET mutation. The latter is characterized by eosinophilic tumor cells and multiple chromosomal losses. These subtypes are responsible for 90-95% of all kidney cancers in adults. Additionally, rare tumor subtypes with unique immunohistochemical features, genetic abnormalities, or a specific clinical course may be identified. Currently, the RCC subtype only holds prognostic significance, and no treatment is associated with any subtype. However, therapies associated with histological subtypes may emerge in the future, and thus, the diagnosis of RCCs should be made following current recommendations.


Subject(s)
Carcinoma, Renal Cell , Kidney Neoplasms , Adult , Humans , Carcinoma, Renal Cell/genetics , Carcinoma, Renal Cell/pathology , Kidney Neoplasms/genetics , Kidney Neoplasms/pathology , Chromosome Aberrations , Mutation , Genetic Background
18.
Orv Hetil ; 164(10): 363-375, 2023 Mar 12.
Article in Hungarian | MEDLINE | ID: mdl-36906860

ABSTRACT

Kidney tumors may develop in association with hereditary tumor syndromes. The clinical presentation of these disorders is various, and in some cases, the renal tumor is the first manifestation of the syndrome. Thus, pathologists need to be aware of the gross and histological signs that may suggest the possibility of a tumor syndrome. In this paper, we summarize and illustrate the characteristics of kidney tumors, genetic background along with the extrarenal manifestations in the following diseases: Von Hippel-Lindau syndrome, hereditary papillary renal cell carcinoma syndrome, hereditary leiomyomatosis and renal cell carcinoma syndrome, Birt-Hogg-Dubé syndrome, tuberous sclerosis, hereditary paraganglioma and pheochromocytoma syndrome, and inherited BAP1 tumor syndrome. At the end of the manuscript, we discuss the tumor syndromes with increased risk of Wilms tumors. Such patients require a holistic approach and multidisciplinary care. Our work aims to make those involved in the diagnosis and treatment of kidney tumors aware of these rare diseases that require life-long surveillance. Orv Hetil. 2023; 164(10): 363-375.


Subject(s)
Adrenal Gland Neoplasms , Carcinoma, Renal Cell , Kidney Neoplasms , Neoplastic Syndromes, Hereditary , von Hippel-Lindau Disease , Humans , Neoplastic Syndromes, Hereditary/genetics , Kidney Neoplasms/pathology , Carcinoma, Renal Cell/diagnosis , Carcinoma, Renal Cell/genetics , Carcinoma, Renal Cell/pathology , Kidney , von Hippel-Lindau Disease/diagnosis , von Hippel-Lindau Disease/genetics , von Hippel-Lindau Disease/therapy
19.
Pathobiology ; 90(5): 322-332, 2023.
Article in English | MEDLINE | ID: mdl-36696889

ABSTRACT

INTRODUCTION: End-stage renal disease (ESRD) and acquired cystic kidney disease (ACKD) are known risk factors for renal cell carcinoma (RCC). Hereby, the clinicopathological features of RCCs developed in ESRD were investigated. METHODS: A database consisting of 34 tumors from 31 patients with ESRD among 2,566 nephrectomy samples of RCC was built. The demographic, clinical, and follow-up data along with pathological parameters were analyzed. The RCCs were diagnosed according to the current WHO Classification of Urinary and Male Genital Tumors. RESULTS: Twenty-two tumors developed in men and 12 in women, with a median age of 56 years (range: 27-75 years). The causes of ESRD were glomerulonephritis (n = 7), hypertensive kidney disease (n = 6), autosomal dominant polycystic kidney disease (n = 6), chronic pyelonephritis (n = 4), diabetic nephropathy (n = 3), chemotherapy-induced nephropathy (n = 1), and undetermined (n = 4). ACKD complicated ESRD in 12 patients. The following histological subtypes were identified: clear cell RCC (n = 19), papillary RCC (n = 5), clear cell papillary tumor (n = 5), ACKD RCC (n = 3), and eosinophilic solid and cystic RCC (n = 2). The median tumor size was 31 mm (range: 10-80 mm), and 32 tumors were confined to the kidney (pT1-pT2). There was no tumor-specific death during the period of this study. Progression was registered in 1 patient. CONCLUSION: In our cohort, the most common RCC subtype was clear cell RCC (55%), with a frequency that exceeded international data appreciably (14-25%). The incidence of clear cell papillary tumor and ACKD RCC (14.7% and 8.5%) was lower than data reported in the literature (30% and 40%). Our results indicate a favorable prognosis of RCC in ESRD.


Subject(s)
Carcinoma, Renal Cell , Kidney Failure, Chronic , Kidney Neoplasms , Humans , Male , Female , Adult , Middle Aged , Aged , Carcinoma, Renal Cell/complications , Retrospective Studies , Hungary/epidemiology , Kidney Neoplasms/complications , Kidney Failure, Chronic/complications
20.
Orv Hetil ; 163(25): 975-983, 2022 Jun 19.
Article in Hungarian | MEDLINE | ID: mdl-35895554

ABSTRACT

Introduction: The COVID-19 (coronavirus disease 2019) caused by SARS-CoV-2 (severe acute respiratory syndrome coronavirus 2) is associated with high mortality rates worldwide. Polymerase chain reaction (PCR) is extensively used for virus detection in both infected patients and deceased persons. PCR, however, gives no information about the localization of the virus in cells and tissues. Detection of spike and nucleocapsid proteins and viral ribonucleic acid (RNA) of the SARS-CoV-2 in situ might provide more information and aid in the discovery of the pathomechanism of cellular damage. There are several commercially available anti-spike and anti-nucleocapsid antibodies used to detect immunohistochemical reactions, though each gives different results. Objective: The goal of the present study was to compare the intensity and specificity of several anti-spike and antinucleocapsid antibodies in different dilutions in four Hungarian university departments. Method: Immunohistochemical reactions were performed on coded slides taken from infected lungs of 3 deceased and placenta samples with appropriate negative controls of formalin-fixed paraffin-embedded tissues, scanned, evaluated unanimously and analysed statistically by the assessors. Results: By comparing the intensity, dilution, background and reproducibility of the different primary antibodies, it was possible to select the antibodies with the best results. Conclusion: The antibodies selected with established dilutions can be used in further studies to detect SARS-CoV-2 proteins in surgical materials and in samples obtained during autopsy.


Subject(s)
COVID-19 Testing , COVID-19 , SARS-CoV-2 , Antibodies, Viral , COVID-19/diagnosis , COVID-19 Testing/methods , Female , Humans , Nucleocapsid Proteins/analysis , Pregnancy , Reproducibility of Results , SARS-CoV-2/isolation & purification , Spike Glycoprotein, Coronavirus/analysis
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