Showing papers in "Československá patologie in 2014"

[WHO classification of tumours of soft tissue and bone 2013: the main changes compared to the 3rd edition].

Abstract: In early 2013, the new classification of tumours of soft tissue and bones was released. This edition belongs to the fourth series of so-called Blue Books published under the auspices of the World Health Organisation (WHO). The current classification follows the previous third edition, from which it differs in several aspects. The vast majority of changes are related to the soft tissue tumour section, which was enriched with three new chapters, some entities or terms were removed, new diagnoses were introduced, and several tumours were reallocated to other categories. Albeit to a lesser extent, similar changes have occurred also in the classification of bone tumours. Compared to the previous edition, more detailed molecular and cytogenetic data were incorporated in the current issue. The rapidly increasing knowledge of the genetics of mesenchymal tumours allows us to make more accurate diagnoses as well as to better understand of the pathogenesis of these lesions. However, abundant molecular and cytogenetic data highlight an increasing problem of growing numbers of genetic overlaps even among quite different tumours. The coexistence of several grading systems of soft tissue tumours is another controversial issue mentioned in the recent WHO classification. The main advantages and limitations of the two most widely used grading systems are also discussed.

Current status of urinary cytology in the evaluation of bladder neoplasms

Abstract: Urine cytology is a reliable method for identification and follow up of the patients who develop high-grade urothelial carcinoma. Reactive changes of superficial and intermediate urothelial cells cytologically often mimic low grade urothelial carcinoma. This is the cause of relatively high number of false positive and false negative results. Diagnostic accuracy can be improved introducing different procedures for material handling namely cytospin and liquid based cytology and new diagnostic protocols such as FISH for chromosomal aberrations or mRNA and miRNA analysis. Most recently Next Generation Sequencing for DNA analysis was applied. Availability of clinical information improves the diagnostic accuracy and shortens the time to diagnosis.

Uterine tumors resembling ovarian sex cord tumors (UTROSCT). Report of a case with lymph node metastasis.

Abstract: SUMMARY Uterine tumors resembling ovarian sex cord tumors (UTROSCT) have an uncertain histogenesis. Although generally considered to be benign, they metastasize in some cases. We report the case of a 53-year-old woman who presented with vaginal bleeding. Clinical examination revealed a tumor sized 1.5 cm in diameter localized in the subendometrial region of the uterine wall. Histologically, the tumor consisted of epithelioid oval cells arranged in solid nests, trabeculae and ribbons. Immunohistochemically, approximately 1% of tumor cells expressed strong desmin positivity, calponin in 10% of cells, WT1 in 80% cells, and Ki-67 was positive in about 5 % of tumor cells. All the other immunohistochemical reactions applied including anti-cytokeratin antibodies were negative. The RT-PCR method for identification of the JAZF1-JJAZ1 fusion transcript was negative. In one lymph node in the right iliac artery region, a metastasis of UTROSCT was found. This finding adds to the previously reported UTROSCT cases with metastatic spread.

International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia 2012

Abstract: Kidney tumours form a broad spectrum of distinguished histopathological and molecular genetic entities The last WHO classification is dated to 2004 Current classification has been published in October 2013 by ISUP (International Society of Urological Pathology) There were 5 new epithelials tumours: tubulocystic renal cell carcinoma (RCC), acquired cystic disease-associated RCC, clear cell (tubulo-)papillary RCC, the MiT family translocation RCCs (in particular t(6;11) RCC), and hereditary leiomyomatosis RCC syndrome-associated RCC Another 3 subtypes of RCC were added as "provisional" entities: thyroid-like follicular RCC; succinate dehydrogenase B deficiency-associated RCC; and ALK translocation RCC Modifications were performed in already existing entities: multicystic clear cell RCC (formerly multilocular cystic RCC) is newly included as a subcategory of clear cell RCC with low malignant potential Oncocytic papillary RCC (PRCC) has not been recognized as a distinctive subcategory of PRCC yet Hybrid oncocytic-chromophobe tumour was placed within the chromophobe RCC category Recent advances related to collecting duct carcinoma, renal medullary carcinoma, and mucinous spindle cell and tubular RCC were elucidated Outside of the epithelial category, current approach to our understanding of angiomyolipoma, including the epithelioid variant and angiomyolipoma with epithelial cysts was clarified Cystic nephroma and mixed epithelial and stromal tumour were considered as a spectrum of one entity Synovial sarcoma was placed within the sarcoma group The new classification is to be referred to as the International Society of Urological Pathology Vancouver Classification of Renal Neoplasia

[Where does Ewing sarcoma end and begin - two cases of unusual bone tumors with t(20;22)(EWSR1-NFATc2) alteration].

Abstract: The authors present two cases of Ewing-like sarcoma of the humerus and femur of a 12-year-old boy and a 28-year-old male, respectively. Identical morphology in both tumors consisted of multiple solid nests with a mosaic collection of small, round, uniform cells with clear cytoplasm and no apparent nuclear atypia. A monotonous structural arrangement, including both rich vascularity of bordering septae and significant admixtures of eosinophil leucocytes, resulted in a final organoid "neuroendocrine-like" pattern. Immunohistochemistry revealed diffuse strong CD10, CD99 and CD138 positivity. Detailed molecular analysis in both tumors confirmed translocation t(20;22) resulting in an EWSR1-NFATc2 fusion gene. Additionally, this translocation was accompanied by amplification of the proximal part of the genes and surrounding areas. Clinically, both neoplasms behaved aggressively and they were primarily chemoresistant. Four years later, the patient with the lesion in the humerus developed a massive local recurrence with a disruption of osteosynthesis. The last follow-up disclosed suspicious metastatic deposits in the lung. The boy with the femoral tumor underwent a total femoral prosthesis and there are no signs of local or systemic recurrence after 11 months of follow-up. The authors discuss the taxonomic placement of these rare examples of Ewing-like sarcoma family in the light of new molecular discoveries.

A concise update on prostate pathology.

Abstract: SUMMARY Karcinom prostaty je (mimo kožnich nadorů) nejcastějsi malignitou mužů v rozvinutých zemich a jeho incidence v rozvojových zemich stale roste. Aktivni výzkum v poslednich letech výrazně napomohl porozuměni biologie a genetiky karcinomu prostaty, vedl ke zlepseni jeho diagnostiky i lecby. Gleasonův grading stale hraje v nastaveni lecebne strategie pacientů s karcinomem prostaty zasadni roli. Tento grading se vsak od zacatku vyviji a odraži tak postupne změny v klinicke praxi. Modifikovaný Gleasonův grading byl zaveden v roce 2005 a výrazně změnil způsob, jakým je grade karcinomu prostaty stanovovan, i způsob, jakým je pacient pote lecen. Několik histologických typů karcinomu prostaty s odlisnými klinickými a patologickými znaky bylo nově objeveno nebo předefinovano. Konecně, pochopeni molekularnich a genetických mechanismů pomaha nejen lepe porozumět patogenezi karcinomu prostaty, ale take identifikovat biomarkery pro lepsi diagnostiku, stratifikaci rizika a klinický management onemocněni. Tento text strucně shrnuje nejnovějsi změny v Gleasonově gradingu, nove histologicke typy a molekularni genetiku karcinomu prostaty. Klicova slova: prostata - Gleasonovo skore - intraduktalni karcinom - neuroendokrinni diferenciace - molekularni genetika

Granular cell variant of atypical fibroxanthoma. A case report.

Abstract: UNLABELLED We report a case of an 84-year old female with granular cell atypical fibroxanthoma. The patient had an exophytic cutaneous tumor without ulceration localized on the left thigh. Histologically, the tumor consisted of a large epitheloid and spindle cells with a moderate to abundant amount of eosinophilic granular cytoplasm. The nuclei were irregular with coarse chromatin and some exhibited prominent nucleoli. Some of the tumor cells displayed atypical bizarre pleomorphic nuclei. Mitotic figures were sparse. Immunohistochemically, the tumor cells showed diffuse positivity for vimentin, CD10, NKi/C3 and CD68 (KP1). CD68 (PGM1) was positive only focally. Other markers examined, which included Melan A, HMB45, S-100 protein, cytokeratin AE1/AE3, desmin, h-caldesmon, α-smooth muscle actin, NSE, CD1a, CD34, and CD31 were negative. A granular cell variant of atypical fibroxanthoma is rare, and only a few cases have been reported in the literature to date. KEYWORDS dermal tumor - atypical fibroxanthoma - granular cells - cytoplasmatic granules - granular cell tumors.

An isolated metastasis to the heart from a malignant phyllodes tumor with osteosarcomatous differentiation.

Abstract: A 74-year-old woman was admitted in a serious condition due to the failing right heart. A CT scan revealed a tumor infiltration through the interventricular septum in the right heart, spreading from the apex as far as under the tricuspid valve. The tumor penetrated into the conus of the pulmonary artery, bulging and markedly narrowing the lumen. As a result of the tumor infiltration, the patient died from cardiac failure. Histological examination of the tumor revealed atypical elongated cells and areas of large cells with significantly enlarged hyperchromatic and lobulated nuclei. In some portions, the tumors had a biphasic appearance. The tumor cells resembled epithelial tissue but immunohistological analyses to detect cytokeratins yielded negative results. The elongated cells expressed desmin and smooth muscle actin. A vast majority of the tumor was solid or hard, histologically corresponding to osteosarcoma. Later, it was found that the patient undergone right-sided mastectomy for a malignant phyllodes tumor with osteosarcomatous differentiation three years previously. The metastasis to the heart was the only metastasis detected by the autopsy.

Epidermolytic hyperkeratosis of the vulva associated with basal cell carcinoma in a patient with vaginal condyloma acuminatum and vaginal intraepithelial neoplasia harboring HPV, type 42.

Abstract: SUMMARY The occurrence of basal cell carcinoma (BCC) of the vulva is rare. We report the case of a 79-year-old woman with a medical history of intravaginal condyloma acuminatum and vaginal intraepithelial neoplasia 3 (VaIN 3) who presented with a solitary whitish lesion sized 8x5 mm with a central desquamation located on the right labium majus. Histopathologic examination revealed a typical superficial and nodular BCC. Additionally, there were multiple remarkable foci of ep idermolytic hyperkeratosis (EH). These foci both merged with superficial BCC or were sharply demarcated from the tumor. Retrospective molecular-biological examination of all the available material revealed HPV type 42 in both condyloma acuminatum and VaIN 3 specimen but not in the BCC associated with EH. To our best knowledge, involvement of the lower female genitalia by EH is a rare finding with six cases published to date. Awareness of EH in this location and its distinction is important because it may be potentially misinterpreted as a viral condyloma.

Expression of the active caspase-3 in children and adolescents with classical Hodgkin lymphoma

Abstract: SUMMARY The aim of the study was to determine whether the expression of active caspase-3 in neoplastic Hodgkin and Reed-Sternberg (H/RS) cells correlates with the treatment response and provides prognostic information on treatment outcome. In this retrospective study, we included 56 patients with classical Hodgkin lymphoma treated at the Department of Paediatric Haematology and Oncology between January 2000 and June 2005. Active caspase-3 was detected by immunohistochemistry in primary biopsy specimens. Seventeen patients (29.3%) were evaluated as caspase-3 positive and remained alive in the first complete remission. This stood in contrast to patients with less than 5% caspase-3 positive cells, five of whom experienced relapse and three patients died. Adequate treatment response was achieved in 11 patients (19.6%). Comparison of event-free survival with regard to the percentage of caspase-3 positive tumour cells showed a tendency for a better clinical outcome in patients with 5% or more active caspase-3 positive cells.

Extraintestinal oxyuriasis - report of three cases and review of literature

Abstract: SUMMARY Extraintestinal oxyuriasis, in our experience with three affected women of fertile age, presented itself as a solitary fibrotic nodular lesion, with a varying location. The sites of location were: parietal peritoneum, serous surface of the uterus and wall of the uterine tube. The size of the nodules was 5 to 10 mm. Histologically, the lesions were hypocellular fibrotic nodules with a variable amount of neutrophils and amorphous eosinophilic material in the center, harbouring eggs of the parasite and remnants of pinworm cuticle. All three lesions were asymptomatic, only being discovered incidentally during the operations for unrelated conditions. Their peroperative recovery by a surgeon did not alter the course of surgery. These findings document the ability of pinworms to migrate into the abdominal cavity via the female genital tract.

Hereditary thyroid carcinoma and its molecular diagnostics

Abstract: Thyroid carcinoma is the most common malignancy of the endocrine system and its incidence is still growing. The majority of thyroid tumors occur in sporadic form, however, some are inherited in families. The carcinomas can be divided into two groups according to the types of thyroid cells. Medullary thyroid carcinoma is derived from parafollicular C-cells. 20 - 25% of medullary thyroid carcinomas are inherited in multiple endocrine neoplasia type 2 syndromes. Genetic causes are activated by germ-line mutations in the RET proto-oncogene, which are transmitted autosomal, dominantly. At present the routine genetic screening and presymptomatic treatment (i.e. prophylactic total thyreoidectomy) on the basis of genotype-phenotype correlation has already been developed. The second group consists of carcinomas derived from follicular cells of thyroid that can be divided into differentiated (papillary and follicular) and nondifferentiated (anaplastic and poorly differentiated) ones. Also in this group 5-15% of carcinomas are cases of different familial syndromes (Gardner, Cowden, Werner syndromes and Carney complex) or only simple familial papillary thyroid carcinoma. Although the genetic basis of inherited cancer syndromes are mostly known (APC, PTEN, PRKAR1α and WRN genes), the cause of nonsyndromic familial papillary thyroid carcinoma is still under investigation, several predisposition genetic loci are recognized.

Gynecomastia with pseudoangiomatous hyperplasia and multinucleated giant cells in a patient without neurofibromatosis.

Abstract: Dear Editor: Pseudoangiomatous stromal hyperplasia (PASH) and stromal multinucleated giant cells (MGC) can occur in both female and male breast (1-5). In males, simultaneous occurrence of PASH and MGC in gynecomastia was described in patients with neurofibromatosis type 1 (NF-1) (6-8). However, the specificity of this finding for NF-1 still remains unclear because the number of described cases is limited. In male patients without NF-1, PASH with MGC in gynecomastia was not reported, to my knowledge. Here, I would like to describe one such case briefly. A 22-year-old male presented with two years slowly growing unilateral gynecomastia of the right breast. Otherwise, his medical history was unremarkable. The lesion was excised and

[A complex diagnostic approach in lymphomas: practical aspect in short case reports].

Abstract: Complex laboratory investigation is necessary for the diagnosis and relevant classification of lymphomas. The classical histopathological morphology and cytology investigation is essential, but further investigations such as immunohistochemistry and fluorescence in situ hybridization are necessary. It is also important to employ flow cytometry as a method of investigation running synchronously or preceding the histopathological approach. Last but not least, the investigation of nucleic acids in lymphoma by molecular approaches is necessary and has become an everyday practice. Communication between pathologists and clinical colleagues (oncologists, hematologists, internal medicine specialists and radiologists) is very important. We demonstrate the necessity of a complex diagnostic approach to lymphomas and an appropriate interpretation of all laboratory investigations giving examples of eight patients with various types of lymphomas. In some cases, it is impossible to properly diagnose a lymphoma without molecular investigation. Occasionally, the results of the molecular investigation may be misleading and/or may be inaccurately interpreted, leading to an incorrect conclusion. For that reason, it is very important to incorporate all specialized laboratories and their teams under one roof (preferably that of pathology departments), enabling tight and daily cooperation between the specialists. This is the way to reach a precise diagnosis in a majority of cases, as well as how to comply with clinical expectations of properly classified lymphomas for a targeted therapy of patients.

[Detection of chromosome changes by CGH, array-CGH and SNP array techniques in tumours]

Abstract: New molecular biology methods have specified the evidence of chromosomal changes in the tumor tissue. These alterations can be proven to exist in the majority of malignant tumors. The fast progress of whole genome molecular biological methods has helped to improve the knowledge of tumor genetics. The evidence of genetic changes is a component of currently used diagnostic and prognostic schemes in particular cancer diseases. Karyotyping was the first method used in the clinical practice but its importance has decreased with the arrival of new molecular biological methods. The most common methods used for the detection of chromosomal deletions or amplifications are CGH, array-CGH and SNP array. The first two methods are based on the principle of comparison between tumor DNA and control DNA. The principle of SNP array uses the presence of single nucleotide polymorphisms that are located in the whole genome in each individual. SNP array can prove not only deletions or amplifications of the chromosomes but unlike CGH techniques it can also detect a loss of heterozygosity or uniparental disomy. The screening of chromosomal changes has nowadays become routine. These techniques are used for diagnosis, prognosis and treatment of cancer disease in certain cases.

Update on urinary bladder pathology.

Abstract: The clinical significance of different histological subtypes of bladder cancer is challenging. The presence of variant architecture identifies mostly a high-risk population with a worse prognosis and suited for complementary treatment. This review outlines the histological variants of bladder cancer and the diagnostic problems.

[Up-to-date experience with the international classification system Bethesda 2010 for thyroid fine-needle aspirate: a review].

Abstract: The Bethesda System for Reporting Thyroid Cytopathology (BSRTC) was introduced in thyroid fine needle aspiration cytology (FNAC) in 2010. A six-tier system is generally accepted. Bethesda categories include morphologic description, risk of malignancy and follow-up suggestions in each group. The system has its advantages and disadvantages, that are discussed. The most problematic are the categories of "Atypia of undetermined significance" or "Follicular lesion of undetermined significance" (AUS/FLUS). The group is heterogenous and overused thus far. The possibilities of its improvement are discussed. The Bethesda system does not include any prognostic and predictive markers. However, they represent the promising direction in the improved version of the BSRTC. Novel molecular methods and alternative techniques such as core needle biopsy are briefly discussed.

Lynch syndrome in the hands of pathologists

Abstract: Lynch syndrome (formerly hereditary non-polyposis colorectal cancer) is the most common familial colorectal cancer syndrome with a known molecular genetic background. The syndrome is caused by a germline mutation of one of the genes encoding mismatch repair (MMR) proteins that are responsible for DNA replication errors repair. Impaired function of these proteins leads to microsatellite instability (MSI) and forms a suitable background for the development and progression of tumors, mainly colorectal cancer. Traditionally, Lynch syndrome was regarded to be responsible for 2 % of all cases of colorectal cancer, however recent estimates reach even 5 %. Due to this relatively high frequency, familial occurence, the absence of the premorbid phenotype and the development of malignant tumors during the productive years of life, the correct diagnosis becomes not only a medical, but also a socioeconomical problem. Unfortunately, clinical means of diagnostics of Lynch syndrome (like the Amsterdam criteria and Bethesda guidelines) lack sensitivity. It was shown that predictive models based on histological signs of MSI are more sensitive than the clinical criteria used to detect patients suspicious of Lynch syndrome. Of all MSI-H colorectal cancers, 1/5 is caused by Lynch syndrome, the rest being only sporadic cancers caused by epigenetic inactivation of a MMR protein. To rule out the sporadic cases, molecular genetic investigation of the BRAF gene and methylation analysis of MLH1 is used in the diagnostic workup of Lynch syndrome. The suspicion of Lynch syndrome, based on the results of the assortment of diagnostic methods mentioned above, should be proven by detection of a germline mutation of an MMR gene in peripheral blood, and followed by screening of family members, which is a necessary condition for efficient prevention.

[Bart´s syndrome associated with epidermolysis bullosa junctionalis and with pyloric atresia. An autopsy case report].

Abstract: Barts syndrome, in literature also known under the name CLAS (Congenital Localised Absence of Skin), first described by Bart in 1966 as congenital localized absence of skin, epidermolysis bullosa congenita and nail abnormalities. The authors present a macroscopic and histological findings of a newborn with Barts syndrome, with epidermolysis bullosa junctionalis and atresia pylori, who died 17 days after birth and 13 days after surgery for pyloric stenosis.

Myxoid variant of peritoneal epithelioid malignant mesothelioma. A case report.

Abstract: The myxoid variant of a diffuse malignant epithelioid mesothelioma is a rare tumor. To the best of our knowledge, only three cases of this type of mesothelioma involving the peritoneum have been reported in the literature to date. Although it is rare in the peritoneal cavity, it should be included in the differential diagnosis of the more common myxoid/mucinous abdominal lesions (e.g. mucinous carcinomas or pseudomyxoma peritonei), which can myxoid MM mimic. We report the case of a 60-year-old female with a myxoid variant of malignant peritoneal mesothelioma. Histologically, the tumor consisted of medium-sized to large epithelioid cells with a moderate to abundant amount of eosinophilic cytoplasm. Some of the tumor cells contained intracytoplasmic, optically clear vacuoles. The nuclei were irregular with coarse chromatin and some exhibited prominent nucleoli. Some of the cells were multinucleated. Mitotic figures were rare. Most of the tumor cells were located within an ample myxoid background. Immunohistochemically, the tumor cells showed a diffuse positivity for cytokeratin cocktail AE1/AE3, calretinin, D2-40, and cytokeratin 7. Vimentin, HBME-1 and WT-1 were only focally positive. Progesterone receptors showed positivity in rare tumor cells (up to 5%). Other markers examined, including cytokeratin 20, estrogen receptors, BerEP4, CEA, TTF-1, GCDFP-15, and CD15 were negative.

Intestinal metaplasia of the stomach and esophagus: an immunohistochemical study of 60 cases including comparison with normal and inflamed intestinal mucosa.

Abstract: Recently, a new classification of intestinal metaplasia (IM) using immunohistochemical mucin markers was proposed. Two following types of IM were defined: (1) a mixed gastric and intestinal type also called incomplete IM; (2) a purely intestinal type, also called complete IM. We present a series of 30 cases of gastric IM and 30 cases of IM of the esophagus, using this new classification. In all gastric cases, IM developed in the mucus-neck region in the form of incomplete IM. Toward the mucosa surface, it matured gradually into complete IM. This maturation showed a gradual reduction of both foveolar mucin MUC5AC and pyloric gland mucin MUC6. In two of 30 cases, IM was of the incomplete hyperproliferative type. In one case, focal high-grade adenomatous dysplasia was found in the incomplete IM. In the esophageal cases, IM was found in inflamed cardiac-type mucosa, and it was usually of the incomplete type, with almost diffuse positivity for MUC5AC and with rare positivity of MUC6. The goblet cells and some cylindrical cells expressed intestinal mucin MUC2. The proliferation was higher than in the complete IM, and in one case, focal low grade adenomatous dysplasia was found. In addition, we examined the expression of mucins in normal and inflamed intestinal mucosa. These cases included 50 duodenal biopsies, 50 biopsies from the ileum, and 50 biopsies from the colon. The inflamed cases included celiac disease, Crohn's disease, and ulcerative colitis. Some goblet cells of the normal intestinal mucosa expressed both MUC2 and MUC5AC. More numerous MUC5AC+ goblet cells were found in the inflamed intestinal mucosa. In the duodenal and small intestinal mucosa, even the MUC6 positivity of a few goblet or cylindrical cells was found. In sum, our results indicate that incomplete IM is an initial step of the metaplastic process. It can mature into complete IM, or alternatively, it can develop dysplasia or adenocarcinoma. In addition, we found that gastric-type mucins are also present in normal or inflamed intestinal mucosa, and that the expression of these mucins is even enhanced in some inflammatory conditions. The expression of MUC5AC in complete IM and in normal or inflamed mucosa suggests that MUC5AC cannot be regarded as a marker of immaturity. In Barrett esophagus, our results were similar to those of previous studies, except for CDX2 of which reactivity was seen also in incomplete type of IM.