A syndromic association between a subset of testicular/paratesticular neoplasms is well established. Such examples include Carney complex and large cell calcifying Sertoli cell tumor, Peutz-Jeghers syndrome and intratubular large cell hyalinizing Sertoli cell neoplasia, and VHL syndrome and clear cell papillary cystadenoma of the epididymis.However, recent studies proposed potential novel links between some testicular and paratesticular neoplasms with certain tumor syndromes. While more studies are still needed to solidify these associations, recent research suggests that a subset of Leydig cell tumors may arise in patients with hereditary leiomyomatosis and renal cell carcinoma syndrome or that some seminomas may occur in Lynch syndrome patients. Additionally, an association between testicular sex cord stromal tumors and paratesticular sarcomas with Familial adenomatous polyposis syndrome and DICER1 syndrome, respectively, has been proposed as well. This review provides a comprehensive overview of the intricate relationship between familial syndromes and associated testicular and paratesticular tumors, shedding light on their clinicopathological and molecular characteristics.
- Klíčová slova
- Association, Familial syndromes, Paratestis, Testis, Tumors,
- MeSH
- dědičné nádorové syndromy * patologie genetika MeSH
- genetická predispozice k nemoci MeSH
- lidé MeSH
- nádory mužských pohlavních orgánů patologie genetika MeSH
- testikulární nádory * genetika patologie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
CONTEXT: In the management of urothelial carcinoma, determination of the pathological grade aims at stratifying tumours into different prognostic groups to allow evaluation of treatment results, and optimise patient management. This article reviews the principles behind different grading systems for urothelial bladder carcinoma discussing their reproducibility and prognostic value. OBJECTIVE: This paper aims to show the evolution of the World Health Organisation (WHO) grading system, discussing their reproducibility and prognostic value, and evaluating which classification system best predicts disease recurrence and progression. The most optimal classification system is robust, reproducible, and transparent with comprehensive data on interobserver and intraobserver variability. The WHO published an updated tumour classification in 2016, which presents a step forward, but its performance will need validation in clinical studies. EVIDENCE ACQUISITION: Medline and EMBASE were searched using the key terms WHO 1973, WHO/International Society of Urological Pathology 1998, WHO 2004, WHO 2016, histology, reproducibility, and prognostic value, in the time frame 1973 to May 2016. The references list of relevant papers was also consulted, resulting in the selection of 48 papers. EVIDENCE SYNTHESIS: There are still inherent limitations in all available tumour classification systems. The WHO 1973 presents considerable ambiguity for classification of the G2 tumour group and grading of the G1/2 and G2/3 groups. The 2004 WHO classification introduced the concept of low-grade and high-grade tumours, as well as the papillary urothelial neoplasm of low malignant potential category which is retained in the 2016 classification. Furthermore, while molecular markers are available that have been shown to contribute to a more accurate histological grading of urothelial carcinomas, thereby improving selection of treatment for a given patient, these are not (yet) part of standard clinical practice. CONCLUSIONS: The prognosis of patients diagnosed with urothelial carcinoma greatly depends on correct histological grading of the tumour. There is still limited data regarding intraobserver and interobserver variability differences between the WHO 1973 and 2004 classification systems. Additionally, reproducibility remains a concern: histological differences between the various types of tumour may be subtle and there is still no consensus amongst pathologists. The recent WHO 2016 classification presents a further improvement on the 2004 classification, but until further data becomes available, the European Association of Urology currently recommends the use of both WHO 1973 and WHO 2004/2016 classifications. PATIENT SUMMARY: Bladder cancer, when treated in time, has a good prognosis. However, selection of the most optimal treatment is largely dependent on the information your doctor will receive from the pathologist following evaluation of the tissue resected from the bladder. It is therefore important that the classification system that the pathologist uses to grade the tissue is transparent and clear for both urologists and pathologists. A reliable classification system will ensure that aggressive tumours are not misinterpreted, and less aggressive cancer is not overtreated.
- Klíčová slova
- Classification system, ISUP, Prognosis, Reproducibility, Urothelial carcinoma, WHO,
- MeSH
- lidé MeSH
- nádory mužských pohlavních orgánů klasifikace patologie MeSH
- staging nádorů metody normy MeSH
- Světová zdravotnická organizace MeSH
- urologické nádory klasifikace patologie MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
Syringocystadenoma papilliferum (SCAP) is a benign tumor most commonly located on the head and neck area often associated with nevus sebaceus. In its usual location, the human papillomavirus (HPV) DNA and mutations in the RAS/mitogen-activated protein kinase signaling pathway have been detected in SCAP. We studied 16 cases of SCAP in the anogenital areas and buttock where this neoplasm is rare and attempted to find out whether SCAP in these sites have different histopathological and molecular biological features. It seems that there is no significant difference between the morphology of anogenital SCAP and SCAP in other locations. Several tumors in our cohort demonstrated features resembling those seen in warts, but HPV DNA was not found in these lesions. On the contrary, we identified DNA of HPV high-risk types in some tumors without HPV-related morphology. Our study confirms the role of HRAS and BRAF V600 mutations in the pathogenesis of SCAP, including SCAP in the anogenital areas and buttock.
- MeSH
- adenomy potních žláz genetika patologie virologie MeSH
- anální kanál patologie MeSH
- dospělí MeSH
- hýždě patologie MeSH
- infekce papilomavirem epidemiologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mutace MeSH
- nádory mužských pohlavních orgánů genetika patologie MeSH
- nádory potních žláz genetika patologie virologie MeSH
- nádory ženských pohlavních orgánů genetika patologie virologie MeSH
- Papillomaviridae MeSH
- protoonkogenní proteiny B-Raf genetika MeSH
- protoonkogenní proteiny p21(ras) genetika MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- BRAF protein, human MeSH Prohlížeč
- HRAS protein, human MeSH Prohlížeč
- protoonkogenní proteiny B-Raf MeSH
- protoonkogenní proteiny p21(ras) MeSH
Pigmented lesions in the anogenital area encompass a wide variety of disorders including squamous intraepithelial neoplasia. The authors sought to explore the mechanism(s) underlying clinically pigmented squamous intraepithelial neoplasia in the anogenital area. A light-microscopic and immunohistochemical study of 64 lesional specimens from 45 patients (32 women, 13 men; age range, 23-73 years) with pigmented lesions in the anogenital area was performed. Histopathologically, 63 (98%) specimens showed melanin incontinence into the superficial dermis beneath the dysplastic epithelium. A focal or total loss of basilar hyperpigmentation was detected in 30 (48%) and 13 (20%) of lesions, respectively. In 17 (27%) cases, absence of basal layer hyperpigmentation was accompanied by a subepithelial lichenoid infiltrate. Melanin within the upper part of dysplastic areas were seen in 63 cases (98%), whereas dendritic melanocytes colonization, mild in all but 1 specimen case, was observed in 53 (83%) cases. All cases proved to be the usual type of squamous intraepithelial neoplasia; no single case of the simplex (differentiated) variant was present. The main mechanisms of pigmented squamous intraepithelial neoplasia of the anogenital area include melanin incontinence and occurrence of melanin in dysplastic keratinocytes. Colonization of the dysplastic epithelium by dendritic melanocytes seems to contribute, but it is rarely a prominent feature.
- MeSH
- dospělí MeSH
- hybridizace in situ MeSH
- imunohistochemie MeSH
- karcinom in situ patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- melaniny MeSH
- melanocyty patologie MeSH
- mladý dospělý MeSH
- nádory anu patologie MeSH
- nádory mužských pohlavních orgánů patologie MeSH
- nádory ženských pohlavních orgánů patologie MeSH
- pigmentace kůže * MeSH
- polymerázová řetězová reakce MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- melaniny MeSH
Adenomatoid tumor (AT) is a benign, relatively rare neoplasm occurring primarily in the genital tract of both genders. Histologically, ATs were composed of fibrous tissue, which are separated by numerous slit-like and pseudotubular spaces. Peculiar "thread-like bridging strands" (TBS) crossing the pseudotubular spaces are typical morphologic feature. In this study, the frequency of occurrence of these TBS within a large series of ATs in various organs was examined. Sixty-nine cases were included in our study. Twenty-eight cases occurred in women, 41 cases in men. Tumors were located in the myometrium, fallopian tube, ovary, epididymis, tunica albuginea, and testicular parenchyma. Tumor size ranged from 0.8 to 8.2 cm (mean, 2.7 cm). TBS were found in 100% of cases. Presence of thin intraluminal TBS within ATs was a constant morphologic feature independently on gender and localization of the lesions. Ultrastructurally, they were always formed by apposition of attenuated cytoplasm of two adjacent mesothelial cells. In our opinion, TBS are morphologically very specific for ATs and we are not aware of any other epithelial structure in any organ demonstrating as appearance similar to these TBS of ATs.
- MeSH
- adenomatoidní nádor patologie MeSH
- cytoplazmatické struktury ultrastruktura MeSH
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- nádory mužských pohlavních orgánů patologie MeSH
- nádory ženských pohlavních orgánů patologie MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
