Ceskoslovenska patologie最新文献

Warthin-like papillary thyroid carcinoma is a rare variant of papillary carcinoma with a very good prognosis. It is often associated with lymphocytic thyroiditis. Due to its typical histological picture resembling Warthin's salivary gland tumor, the histological diagnosis is not difficult, usually does not require an accompanying immunohistochemical examination and is based on the presence of nuclear features typical of papillary carcinoma and the presence of oncocytes in a background of rich lymphocyte infiltrate. The preoperative cytologic examination is challenging, as many other lesions may have a similar picture. Women are more likely to get affected. It appears a decade earlier than the classic variant. Clinically, it presents similarly to a conventional papillary carcinoma. In our case report, we would like to present the case of a 56-year-old woman with non-toxic multinodular goiter, in whom the presence of this rare variant of papillary carcinoma was revealed by histological examination.

Small cell lung carcinoma (SCLC) is a high grade neuroendocrinne tumour accounting for approximately 15 % of lung cancers. It is characterised by early relapse and low survival rate. The treatment has remained unchanged for decades. Histological and cytological characteristics are summarised in brief, along with genetic alterations of the tumour. A new molecular subtype classification is presented according to the expression of transciptional factors ASCL1 (SCLC-A), NEUROD1 (SCLC-D), POU2F3 (SCLC-P) and YAP1 (SCLC-Y). These subtypes represent different ways of tumorigenesis, and the distinct genomic alterations may offer new therapeutic strategies.

Methylation silencing of certain cellular genes is a sign of carcinogenesis progression and therefore tests that detect methylation could be used in the diagnosis or staging of malignant diseases. In the diagnosis of squamous cell carcinomas of the cervix which are almost 100% caused by long-term infection with highrisk human papillomavirus (HR-HPV), methylation silencing of certain cellular genes is a highly specific marker of advanced dysplastic lesions and appears to result from aberrant activation of the methyltransferase DNMT1 by viral oncoproteins E6 and E7. A methylation test performed on a cervicovaginal cytology specimen allows to increase the diagnostic value of this non-invasive test and to select patients with severe squamous cell lesions for follow-up. Other less frequent anogenital malignancies that are induced by HR-HPV to a lesser extent can also be detected by cytological examination - glandular lesions of various origins, most commonly cervical and endometrial adenocarcinomas and anal carcinoma. The aim of our pilot study was to evaluate the utility of a methylation test for the diagnosis of these malignancies in a cohort of 50 liquid-based cervicovaginal cytologies with glandular lesion and 74 liquid-based anal cytologies from HIV-positive men having sex with men who are at high risk for anal cancer development.

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.

Giant cell fibroblastoma is a rare locally aggressive tumor of subcutaneous mesenchymal tissue, occurring mostly on the trunk in young individuals with maximal incidence in the first decade of life. Local recurrences of giant cell fibroblastoma are common if marginally excised, however, distant metastases do not occur. Giant cell fibroblastoma was labelled as a juvenile variant of dermatofibrosarcoma protuberans (DFSP) due to quite frequent combination of both lesions, morphological similarities, identical immunoprofile, and shared gene fusion t(17;22) COL1A1-PDGFB. In this paper, we report a case of a young man with a slowly growing subcutaneous tumor in the groin. The tumor was excised and histological examination identified a mesenchymal tumor with variable cellularity, presence of multinucleated giant cells and pleomorphic spindle cells, which lined pseudovascular or angiectoid spaces. The CD34 immunohistochemistry showed strong positivity in all of these cells, whereas ERG was positive only in endothelial cells in true vessels. These findings led to a suspicion on giant cell fibroblastoma. Because of its borderline malignant behaviour and positive surgical margins, the lesion was subsequently reexcised. The molecular analysis identified the transcription product of gene fusion COL1A1-PDGFB and thus, final diagnosis was confirmed. The article includes review of the literature and brief historical overview of giant cell fibroblastoma concept as an unique entity.

The fifth edition of the WHO classification of prostate tumors provides new insight into prostate cancer pathogenesis supported by molecular data. It discards the terms low-grade PIN and high-grade PIN. The new entity „Treatment-related neuroendocrine prostatic carcinoma“ is introduced. The importance of the diagnosis of intraductal carcinoma is highlighted. The terminology of prostatic basocellular carcinoma is upgraded. Some cancer subtypes are being relocated to different chapters based on new findings. Also, the role of the prostate as an origin of hereditary cancer is stressed. Finally, the new therapeutic approaches are mentioned.

Compared to the WHO classification of the male genital tumors in 2016, minimal changes were introduced in the current WHO 2022. Classification of germ cell tumors remains the same as in the previous edition, dividing germ cell tumors into those derived from germ cell neoplasia in situ (GCNIS) and those independent of GCNIS. The group of GCNIS derived germ cell tumors is essentially unchanged. Most remarkable change was made to the chapter teratoma with somatic malignancy. Primitive neuroectodermal tumor (PNET), a particular type of somatic malignancy arising in the setting of teratoma, is currently termed embryonic-type neuroectodermal tumor (ENET). Diagnostic criteria for teratoma with somatic type malignancy have been mildly modified. Seminoma now belongs to the group of germinomas. There is one novel entity in the category of germ cell tumors independent of GCNIS, namely testicular neuroendocrine tumor, prepubertal type. Similar to other organ systems, the term carcinoid is no longer used. Two new entities were introduced in the category of sex cord stromal tumors: myoid gonadal stromal tumor and signet ring stromal tumor. Diagnostic criteria for malignant sex cord stromal tumors were moderately changed. Mitotic activity is now assessed according to mm2 instead of historical assessment according to the number of mitoses per high power fields. There is a new separate chapter named Genetic tumor syndromes. Intratubular large cell hyalinizing Sertoli cell neoplasia which arises exclusively in patients with Peutz-Jeghers syndrome, now belongs here. Large cell calcifying Sertoli cell tumor occurs as a hereditary tumor in patients with Carney complex as well as sporadically. Therefore, it is enlisted both in the chapter on sex cord tumors and as well as in genetic tumor syndromes. Well differentiated papillary mesothelial tumor was added as a new entity to the section of testicular adnexal tumors. Sertoliform cystadenoma, a tumor previously belonging to testicular adnexal tumors, is currently recognized as a subtype of Sertoli cell tumor.

The new WHO classification of CNS tumors is largely based on molecular diagnostic. Without molecular methods some entities can no longer be diagnosed. We are trying to show a rational approach to the CNS tumors diagnostics, which is based on conventional molecular methods such as RT-PCR, Sanger sequencing, MLPA, extended by the next generation sequencing (NGS) and methylation SNP array.

Tumors of the central nervous system (CNS) include primary tumors - itraaxial, growing from brain and spinal cord cells (neuroepithelial tumors) or extraaxial, growing from surrounding structures (brain and spinal cord, nerve sheaths, vascular structures, lymphatic tissue, germ cells, malformations, pituitary glands). Much more often they are located in the intracranial space a solitary or multiple metastatic spread of malignancy originating from another organ (eg lung, breast, malignant melanoma, Grawitzs tumor). The occurrence of metastases of solid tumors is then in the intraaxial or extraaxial region, leptomeningeal or dural. Even morphologically benign tumors with their occurrence in a closed CNS compartment can have malignant behaviour and cause severe slowly developing to acute neurological symptoms, including intracranial hypertension. Primary tumors of the central nervous system present 1-2% of all cancers, with a higher incidence in adults after the age of 60, with a slight predominance in men, with higher mortality in men than in women. About 5% of CNS tumors are hereditary (e.g., Li-Fraumeni syndrome, neurofibromatosis type I, II). The causes of most brain and spinal cord tumors are unclear, the effect of radiation has been definitely demonstrated, there is an increased risk in transplant patients and AIDS (Acquired Immune Deficiency Syndrome) patients, and the potentiating effects of some chemicals and viruses on the development of CNS neoplasms are uncertain. The effectiveness of treatment of brain and spinal cord tumors is influenced by the existence of the so-called hematoencephalic barrier, which protects the brain from the penetration of toxic substances, but at the same time prevents the penetration of most cytostatics to the tumor target. Another obstacle may be the localization of the tumor in areas difficult to access for histological verification (brain stem, optical chiasma) due to the high risk of complications even after stereotactic biopsy. In some cases, in an effort not to cause an irreversible neurological deficit by inconsiderate tissue collection, the sample of histological material can then become inconclusive to tumor cells, i.e., tumor cells are not captured. Last but not least, the radiosensitivity of some brain structures is also limiting, which makes it impossible to apply a higher dose of ionizing radiation to a tumor affecting sensitive tissues or located near of these sensitive tissues. The rapid development of immunohistochemical (IHC) and molecular genetic analysis methods has significantly refined diagnostics and thus theoretically facilitates the choice of the optimal treatment procedure for the individual patient. While advances in modern conformal photon and particle (currently the most frequently proton) radiotherapy, stereotactic radiosurgery has enabled accurately targeted irradiation of the CNS tumor site and at the same time spare the high-risk brain structures, thereby significantly reduc

Duodenum is currently the most popular site to obtain samples of intestinal mucosa for recognition of a disorder leading to malabsorption. Although there are significant overlaps between histological findings described in various non-neoplastic diseases of the duodenum, recognition of one of the six basic morphologic patterns, namely coeliac disease-like pattern, active chronic duodenitis, acute GvHD-like pattern, enteritis with predominant eosinophilic infiltration, enteritis with predominant infiltration by macrophages, and non-inflammatory enteropathy, usually allows diagnostic separation, especially if subtle histological details, clinical setting and serological investigation are taken into account.