Showing papers in "Československá patologie in 2023"

Molecular diagnosis of complete and partial hydatidiform moles.

Abstract: Complete and partial hydatidiform moles are abnormal products of conception that can be identified by clinical, ultrasonographic, morphologic, histologic, and genetic methods. The diagnosis is usually confirmed only by histological examination. However, accurate diagnosis based on morphological criteria is difficult and some studies have shown that misclassifications are common, even when analysed by highly experienced pathologists. Misdiagnosis may mean that women are either not included in adequate β-hCG follow-up with the risk that the hydatidiform mole progresses to choriocarcinoma or, conversely, are included in follow-up unnecessarily. A reliable complementary method to pathological interpretation may be genetic analysis of the conceptus to eliminate the diagnostic dilemma by distinguishing non-molar spontaneous abortions from hydatidiform moles and defining the type of hydatidiform mole. The aim of our short paper is to introduce the routine molecular analysis used in our laboratory to a wider range of clinical pathologists.

Methylation analysis as an auxiliary tool in cytological diagnostics of infrequent anogenital lesions - a pilot study.

Abstract: 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.

Warthin-like papillary carcinoma: Case report.

Abstract: 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.

Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.

Abstract: We present a comprehensive review dealing with rare genetic skeletal disorders. More than 400 entities are included in the latest classification. The most severe or lethal phenotypes are identifiable in the prenatal period and the pregnancy can be terminated. Perinatal autopsy and posmortem X-rays are crucial in providing a definitive diagnosis. The number of cases confirmed by genetic testing is increasing. We report our own experience with genetic skeletal disorders based on 41 illustrative fetal and neonatal cases which we encountered over a 10-year period. Thanatophoric dysplasia and osteogenesis imperfecta represent approximately half of the cases coming to autopsy. Achondrogenesis type 2 and hypochondrogenesis, short-rib dysplasia, chondrodysplasia punctata, campomelic dysplasia and achondroplasia are less common. Skeletal dysplasias with autosomal recessive inheritance are the least frequent, e.g. perinatally lethal hypophophatasia, achondrogenesis type 1A, diastrophic dysplasia/atelosteogenesis type 2 or mucolipidosis type 2 (I cell disease).

Current possibilities of histopathologic separation of idiopathic pulmonary fibrosis from fibrotic hypersensitivity pneumonitis. How to do it?

Abstract: Histopathological pattern of progressive pulmonary fibrosis could be seen in many different fibrotic lung interstitial diseases. Exact diagnosis is crucial for precise therapy, moreover, different diseases have different prognosis. The most important disorders in this group are idiopatic pulmonary fibrosis and fibrotic hypersensitivity pneumonitis, and their separation is crucial because of totally different treatment of the patients. The aim of this review is to sum up the most important characteristics of usual interstitial pneumonia, histopathological pattern of idiopatic pulmonary fibrosis, and fibrotic hypersensitivity pneumonitis and provide a practical work-up for precise diagnostics of these diseases in the frame of effectively cooperating multidisciplinary team.

Bleeding after childbirth / miscarriage - practical notes on the examination of biopsy material.

Abstract: Postpartum haemorrhage is a significant cause of maternal morbidity and mortality worldwide. The pathologist encounters only a limited spectrum of causes leading to postpartum haemorrhage. The most common causes are retained placenta and placental site subinvolution. Both of these lesions can be diagnosed from material obtained by uterine curettage. Morbidly adherent placenta (placenta accreta spectrum) is a less frequent subject of investigation, the diagnosis of which can be reliably established only on the basis of histological examination of uterine specimens after hysterectomy.

Endolymphatic sac tumour - a rare complication associated with von Hippel-Lindau disease.

Abstract: We report the case of a 42-year - old female with familiar form von Hippel-Lindau disease (VHL) and recurrent endolymphatic sac tumour (ELST), which was presented like non-homogenous, solid and cystic expansion of the left petrous temporal bone. Histologically, there was found lamellae of bone with adjacent ligament and with papillary projections with fibrovascular core. The papillae were lined by a single layer of cuboidal epithelium with hyperchromatic and lightly pleomorphic nuclei. Sporadically, small cystic formations with eosinophilic, PAS positive secretion were noted. Imunohistochemically, the cuboidal cells showed diffuse positivity for vimentin, epithelial membrane antigen (EMA), cytokeratin AE1/AE3 and S100 protein (weakly). Other markers examined, including TTF1, PAX8 and CD10, were negative. Endolymphatic sac tumour is rare low-grade malignant epithelial tumour arising from the endolymphatic sac in the temporal bone, which occurs in 1 out of 30 000 births, with just fewer than 300 cases reported in the literature. About one third of cases are associated with von Hippel- Lindau disease, an autosomal dominant familial cancer syndrome.

Small cell lung cancer - news in the tumour´s biology.

Abstract: 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.

Spontaneous abortion in the first trimester of pregnancy.

Abstract: Spontaneous abortions in the first trimester of gravidity represent a clinically significant problem that can affect up to 15% of recognized pregnancies. The causes of early pregnancy loss are very heterogeneous and include genetic, environmental and immunological factors. Although the pathologist's main task is to exclude molar pregnancy, in some cases conventional histological examination can also contribute to the elucidation of the cause of miscarriage and the management of subsequent pregnancies, especially in the case of lesions with a high risk of recurrence that may lead to habitual abortion.

A case report: Acute kidney injury with progression to chronicity in an eldery woman.

Abstract: Acute renal failure in elderly patients can be caused by a wide spectrum of diseases that usually have a cause outside the kidney. The most common causes include renal impairment as part of ANCA vasculitis, another category includes clonal plasmatic cell disease with light chain cast nephropathy; and there also exists an increasing number of drug-induced tubulointerstial damage. We present a case of iatrogenic less common form of acute failure in a 73-year-old woman, who did not suffer from any serious disease until then. Although the biopsy helped to determine the cause of the failure and thus affect subsequent therapy, the function did not return to the previous state and the patient progressed to CKD G3bA1 with serum creatinine values of around 170-140 μmol/l.

Hydatidiform mole.

Abstract: Hydatidiform mole is the most common form of gestational trophoblastic disease. It is an abnormally formed placental tissue with characteristic changes in karyotype, arising in fertilization disorders. The presence of abundant paternal genetic information plays a key role in the pathogenesis of complete and partial hydatidiform moles. These lesions are characterized by a relatively wide spectrum of morphological changes that may not be fully expressed, especially in the early stages of pregnancy. In addition, some changes can be observed in non-molar gravidities, which, unlike hydatidiform moles, lack any risk of malignant transformation. Although conventional histological examination still plays a key role in the diagnosis, it should be supplemented by other methods that reliably differentiate individual lesions. Accurate diagnosis of molar gravidities is important not only for determining the correct therapeutic approach, but the obtained data may also contribute to further research of these pathological entities.