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The clinical management of patients with pancreatic cystic lesions is of utmost importance to identify those at high risk for pathological progression. Current recommendations are guided by clinical presentation and radiologic criteria, but the results fall short for a disease that the only curative option is surgical resection. There is an urgent need for the introduction of biomarkers that can help in risk assessment of such lesions. We report a case of a pancreatic cystic lesion without imagiological findings suggestive of advanced disease, and high levels of a circulating biomarker, glypican-1 (GPC-1), which parallel those of patients with pancreatic cancer. One year after, the patient revealed malignant progression at follow-up. Our report is unprecedented in the literature. It describes a clinical case in which a biomarker was positive for a patient that only showed progression one year after its detection. This clinical information goes beyond the current knowledge in the field because it shows that the introduction of liquid biopsy and biomarkers is a highly promising clinical tool for the non-invasive assessment of pancreatic cancer precursor lesions, ultimately increasing the rate of patients eligible for surgical resection.

Background: The evaluation of lymph nodes (LN) by fine-needle aspiration cytology (FNAC) is routinely used in many institutions but it is not uniformly accepted mainly because of the lack of guidelines and a cytopathological diagnostic classification. A committee of cytopathologists has developed a system of performance, classification, and reporting for LN-FNAC. Methods: The committee members prepared a document that has circulated among them five times; the final text has been approved by all the participants. It is based on a review of the international literature and on the expertise of the members. The system integrates clinical and imaging data with cytopathological features and ancillary techniques. The project has received the endorsement and patronage of the International Academy of Cytology and the European Federation of the Cytology Societies. Results: Clinical, imaging, and serological data of lymphadenopathies, indications for LN-FNAC, technical procedures, and ancillary techniques are evaluated with specific recommendations. The reporting system includes two diagnostic levels. The first should provide basic diagnostic information and includes five categories: inadequate/insufficient, benign, atypical lymphoid cells of undetermined/uncertain significance, suspicious, and malignant. For each category, specific recommendations are provided. The second diagnostic level, when achievable, should produce the identification of specific benign or malignant entities and additional information by utilizing ancillary testing. Conclusion: The authors believe that the introduction of this system for performing and reporting LN-FNAC may improve the quality of the procedure, the report, and the communication between cytopathologists and the clinicians. This system may lead to a greater acceptance and utilization of LN-FNAC and to a better interdisciplinary understanding of the results of this procedure.

Pediatric-type follicular lymphomas are rare lymphomas, affecting mostly children and young adults. These are characterized by an excellent prognosis, despite their conservative therapeutic approach. Recognized as an entity in the most recent 2016 WHO classification of tumors of hematopoietic and lymphoid tissues, its diagnosis is based on the recognition of an exclusively nodular architecture, thus conditioning the possibility of a cytological diagnosis. It is thus not odd, the scant literature found on the cytological approach to these lesions. Herein we describe a case of a pediatric-type follicular lymphoma, first approached through fine needle biopsy. The case is thoroughly discussed from a cytologic, immunophenotypic, and molecular point of view. Differential diagnoses are discussed. The final diagnosis was performed on histology.

Background: Small round blue cell tumors or more commonly called small round cell tumors (SRCTs) are undifferentiated neoplasms, sharing an overlapping morphological pattern of small round blue cells. Diagnosing these tumors represents a complex challenge for cytopathologists and for general surgical pathologist alike. This stems from the fact that these tumors share not only similar morphological features, but also some immunophenotypic characteristics, thus requiring a broad panel of antibodies, which might not be included in the most basic immunohistochemistry panels, used in the routine work of most pathology laboratories. Furthermore, one should note that the diagnosis, prognosis, and/or therapeutic decision are often dependent on the knowledge of the existence of specific molecular alterations, which requires access to sophisticated molecular ancillary techniques. Cytological diagnosis of SRCT should be systematized. A thorough understanding of the morphological pattern of these tumors, the small details they entail, the background and cellular patterns, and the nuclear and cytoplasmic peculiarities, may hint to the most probable diagnosis. Minor clues, such as the presence of a fibrillar background, the presence of rosettes or a specific “salt and pepper” chromatin, are important clues toward a probable diagnosis of a neuroblastoma, or the presence of a tigroid background is a characteristic of rhabdomyosarcoma and the Ewing family tumors. However, in poorly differentiated tumors, morphology alone will not suffice, making it essential for the access to complementary diagnostic techniques in order to reach the final diagnosis. Summary and Key Messages: The cytological diagnosis and treatment of SRCTs require an experienced, well-articulated, proficient teamwork, and sophisticated complementary diagnostic techniques, only available in centers of reference.

Background and study aims The utility of suction during endoscopic ultrasound (EUS) fine-needle biopsy (FNB) using Franseen-tip needle remains unclear and has not been evaluated in randomized trials. We designed a randomized crossover trial to compare the diagnostic yield during EUS-FNB using a 22G Franseen-tip needle, with and without standard suction. Patients and methods Consecutive patients undergoing EUS-guided sampling of solid pancreatic lesions were recruited. A minimum of two passes were performed for each case: one with 20-mL syringe suction (S+) and another without (S–). The order of passes was randomized and the pathologist blinded. The endpoints were the diagnostic yield and the impact of blood contamination in the diagnosis. Results Fifty consecutive patients were enrolled. The overall diagnostic accuracy was 84 %. A diagnosis of malignancy was obtained in 70 samples: 36 in the S+group and 34 in the S–group. A statistically significant difference was seen in the diagnostic accuracy (S+: 78 % vs. S–: 72 %, P Conclusions We found a higher diagnostic yield with the use of suction. It was associated with a higher degree of sample blood contamination that did not affect the diagnostic performance.

Fine needle aspiration biopsy cytopathology (FNAC) of lymph nodes is a very common, inexpensive, and rapid diagnostic procedure and can lead to the accurate and timely diagnosis of one of the wide range of pathological processes that involve lymph nodes. These diagnoses include specific reactive processes, specific infections such as tuberculosis, metastatic carcinomas and melanomas, and some lymphomas. The FNAC effectively triages the lymph node material, but the initial diagnosis often requires ancillary testing as a second diagnostic step to make a specific diagnosis, such as the particular infectious agent, the type of lymphoma or Hodgkin lymphoma, or the specific type of metastatic malignancy. An international group of cytopathologists have begun the process of developing a system for the standardized reporting of lymph node FNAC. The group is addressing the pre-analytical issues related to the FNAC, including the role of clinical information and the use of ultrasound, and developing a structure of reporting categories based on the cytopathological findings linked to management recommendations. The basis of the system is the integration of the FNAC with the clinical setting, imaging, and ancillary tests that utilize the FNAC material, to produce a final report that will enhance patient care.

Case Report. A four-year-old girl presented with fever and a painful limp in the left hip. Pain characteristics and anemia detected in the blood analyses were the first warning signs that the hip process was not standard. Although the primary suspicion was of septic arthritis, a CT scan of the abdomen revealed an adrenal neuroblastoma.Conclusion.The presenting signs of neuroblastoma are commonly atypical. About 25% of presentations are orthopedic and mimic a variety of severe orthopedic conditions. The most important clinical dilemma is distinguishing benign and self-limiting disorders from septic or malignant processes.

Objectives Multinodular goiter (MNG) and well-differentiated thyroid carcinoma (WDTC) are emerging phenotypes of DICER1 syndrome. Methods Histologic and molecular findings of botryoid-type embryonal rhabdomyosarcoma (bERMS) and thyroid nodules from a 12-year-old DICER1 mutation carrier (p.Arg1060Ilefs*7) were investigated, providing interesting clues for understanding thyroid carcinogenesis. Results The patient had bERMS at age 7 years. The thyroid was enlarged and multinodular (61 g). Histologically, some nodules were classified as adenomatous and others as tumors with "intermediate" nuclei. One displayed vascular invasion and was classified as WDTC not otherwise specified (NOS). Somatic DICER1 mutations were identified in bERMS, two tumors with "intermediate" nuclei and WDTC. No somatic DICER1 mutations were found in adenomatous nodules. No molecular alterations were detected in BRAF600, NRAS61, HRAS12/61, KRAS12/61, TERT promoter, RET/PTC1, RET/PTC3, and PAX8/PPARγ. Conclusions The findings obtained from this single case support the assumption that DICER1 syndrome-related WDTC NOS may develop on a background of MNG, via a stepwise process, involving DICER1 somatic mutations and additional molecular events, distinct from the classic pathways of papillary/follicular carcinoma.

Background: Anal squamous intraepithelial lesions (ASIL) are precancerous lesions of anal squamous cell carcinoma, with a higher prevalence in immunosuppressed patients. There are some studies in kidney transplant recipients, but there is no information regarding prevalence in liver transplantation. Our aim was to evaluate the prevalence of ASIL in this setting. Methods: Prospective case–control study involving liver transplant recipients without any other known risk factor for ASIL (n=59), which were compared with a healthy control group (n=57). All were submitted to anal cytology and high-resolution anoscopy was performed in those with abnormal results. Results: Ten (17%) of liver transplant recipients had abnormal cytological results, seven patients had atypical squamous cells of undetermined significance (ASC-US), one patient had atypical squamous cells that cannot exclude high-grade (ASC-H) and two patients had high-grade squamous intraepithelial lesions (HSIL). In the control group, one patient (2%) had an ASC-US result (P=0.005). Anal squamous intraepithelial lesions were confirmed in 7 out of 10 of liver transplant patients and 0 out of 1 in the controls (P=0.013) by high-resolution anoscopy with biopsies. Current smoking was the only risk factor for abnormal cytology (odds ratio=5.87, 95% confidence intervals=1.22–28.12, P=0.027). Conclusions: Liver transplant patients have a higher risk of ASIL. Screening should be considered, especially in smokers.

Large-cell neuroendocrine tumors (NETs) are poorly differentiated malignancies of rare incidence and aggressive nature. NETs mostly arise in the lung followed by the gastrointestinal tract, although they are potentially ubiquitous throughout the body. Primary unknown NET has a worse prognosis and shorter survival comparing with other NETs, with limited available data in the literature concerning this subgroup. The authors report the case of large-cell NET with supraclavicular lymph node presentation. Total excisional biopsy revealed an enlarged adenopathy 18 × 15 × 10 mm, which was extensively infiltrated by a solid malignant neoplasm composed of large cells with granular chromatin, nuclear pseudo-inclusions, high mitotic index, and focal necrosis, with a Ki 67 index 25-30% and positive immunohistochemical study for the expression of cytokeratin 8/18, chromogranin, synaptophysin, and thyroid transcriptional factor-1 (TTF-1). There was no evidence of primary location apart from two infracentimetric lung lesions that could not be accessed for biopsy and were negative at both somatostatin receptor scintigraphy and positron emission tomography. The NET relapsed with three mediastinal masses, so the patient was started on chemotherapy with carboplatin and etoposide with initial total response. Early progression showed no response to further chemotherapy regimens (temozolomide, oral etoposide); therefore, the patient was treated with local radiotherapy. This patient has an atypical long survival (54 months) compared to the literature data. In fact, there are few long-term survivors of large-cell NET and they are all related to complete surgical resection.

The range of pathologies that lymph node (LN) fine needle cytology (FNC) may encounter is extremely wide and ancillary techniques, in addition to traditional smears, are generally required to reach reliable cytologic diagnoses. Storing part of the cytologic material may be useful or necessary for molecular testing. The main difficulties concern the generally small size of the sample and the different methods of acquisition of LN-FNC. Therefore, the preanalytic phase is extremely important for LN-FNC. This article outlines the management of LN-FNC material, vials, technical devices (e.g.: additional smears, cytospin slides, LBC slides, cards, resins, etc.) and main ancillary techniques to assess their optimal application, taking into account the different diagnostic needs and cell storage.

Background: Rapid on-site evaluation (ROSE) has the potential to increase endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) accuracy in the diagnosis of mediastinal lesions and lung cancer staging. However, studies have reported controversial results.The purpose of our study was to evaluate the influence of ROSE on sample adequacy and diagnostic accuracy of EBUS-TBNA. Methods: Prospective observational study that enrolled 81 patients who underwent EBUS-TBNA for investigation of hilo-mediastinal lesions or lung cancer staging. The first 41 patients underwent EBUS-TBNA with ROSE (ROSE group) and the last 40 patients without ROSE (non-ROSE group). Sample adequacy and diagnostic accuracy of EBUS-TBNA in both groups were compared. Results: Adequate samples were obtained in 93% of the patients in the ROSE group and 80% in non-ROSE group (p = 0.10). The diagnostic accuracy of EBUS-TBNA was 91% in ROSE group and 83% in non-ROSE group (p = 0.08). Analyzing the EBUS-TBNA purpose, in the subgroup of patients who underwent EBUS-TBNA for investigation of hilo-mediastinal lesions, these differences between ROSE and non-ROSE group were higher compared to lung cancer staging, 93% of patients with adequate samples in the ROSE group vs. 75% in the non-ROSE group (p = 0.06) and 87% of diagnostic accuracy in ROSE group vs. 77% in non-ROSE group (p = 0.10). Conclusions: Despite the lack of statistical significance, ROSE appears to be particularly useful in the diagnostic work-up of hilo-mediastinal lesions, increasing the diagnostic yield of EBUS-TBNA. Keywords: EBUS-TBNA, ROSE, Sample adequacy, Diagnostic accuracy

Cytology features of childhood jaw tumors are infrequently reported in the literature. Fine-needle aspiration cytology (FNAC) has been used with good results in the differential diagnosis of bone lesions, being an excellent tool for the diagnosis of metastases and in the frontline approach to primary lesions. We report 3 cases of young children aged 3 years (case 1), 5 months (case 2), and 15 years (case 3) with jaw tumors diagnosed by FNAC. In the first two cases the diagnosis was prognoma, and in the third case cementifying fibroma. Despite the clinical and imaging similarity of the 3 cases – large maxillary/mandibular tumors – their characteristic cytological features allowed a confident diagnosis, excluding other differential alternatives. In both case 1 and case 2 a dual cell population of neuroepithelial and melanocytic cells was identified, consistent with a melanotic neuroectodermal tumor. In case 3 the presence of a bland spindle cell population as well as of several nodular dense eosinophilic, osteoid-like (cement) matrices, indicated a cementifying fibroma. All cases were resected and confirmed by histological examination. A review of the literature, including differential diagnosis, addresses the utility of FNAC in childhood jaw tumors.

The routine use of ancillary studies is reshaping the practice of cytopathology. Currently, most cytopathologists recognize the importance of immunocytochemistry and molecular techniques as adjuncts to morphology to achieve a precise diagnosis. Cytopathologists also are expected to include specific prognostic and predictive information in their reports. The objective of this review was to address the use of immunocytochemistry and molecular techniques to refine the preoperative diagnosis and classification of lung cancer, thyroid cancer, kidney cancer, gastrointestinal cancer, and soft tissue tumors. Fine-needle aspiration also offers a suitable alternative to biopsy in a variety of clinical settings, in particular, when it may be useful to obtain material to study prognostic and predictive markers. This is particularly relevant to obtain material from metastatic sites. The study of KRAS in colon cancer, CKIT in gastrointestinal stromal tumors, and epidermal growth factor receptor mutational status in lung cancer also are addressed particularly in this report. Cancer (Cancer Cytopathol) 2012;. © 2012 American Cancer Society.

Fine-needle aspiration cytology (FNAC) is a recognized ancillary tool in the diagnosis of tumours and infectious diseases. Throughout decades cytopathologists did tremendous marvels with pure morphologic criteria, diagnosing in shrinking amounts of material. The recent understanding of complex cancer biology reshapes the practice of FNAC. The scientific advance of image techniques gave cytopathologists the possibility to go to deep locations and collecting material from previous unlikely locations. This conjunction of knowledge's and techniques has increased the role of FNAC in the diagnosis, prognosis and in the establishment of new therapeutic targets. Lately, core needle biopsy is gaining popularity and advantage regarding FNAC. The sample limitation of FNAC regarding immunocytochemical staining with proper controls, as well as the limitation in appreciating invasiveness has lead, in some fields, like soft tissue tumours, breast, lymph node, and prostate, to diminish the use of FNAC. However FNAC still is a less invasive, effective, and cost efficient technique. In this review we demonstrate the application of basic molecular techniques to FNAC as a crucial tool in the diagnosis, prognosis and planning of alternative molecular therapeutics of tumours.

Nephroblastoma is a success of paediatric oncologic therapy, yet, there are still some cases where favourable response to preoperative chemotherapy is not achieved. Fine needle biopsy has the role of diagnostic confirmation and, idyllically of predicting a response to preoperative chemotherapy. To advance in this aim, we retrieved a total of 14 nephroblastomas, (seven male patients and seven female with a mean age of 44.4 months), diagnosed in our department by fine needle biopsy and submitted afterward to chemotherapy and nephrectomy, in the last 10 years. Correlation between cytologic features, (morphology, cell death, and proliferation (Ki-67 labelling index), and post chemotherapy tumour evaluation was done. Cytologic pattern per se was not predictive of histologic tumour classification (P = 0.6061). We did not find any correlation between the percentage of necrosis and apoptosis (P = 0.682) in cytologic smears and histologic regressive changes but when both these two criteria coexisted in cytologic blastemal component of nephroblastomas, this fact seemed to lead to a favourable response of the tumour to chemotherapy. When evaluation of Ki-67 labelling index was done in the blastematous component present in the smears, divergent results were obtained. The small number of cases prevented any firm conclusions. By summing up, our results support the idea that there are probably two types of blastema in nephroblastoma with different “suicide” potential and chemotherapeutic response. Further studies should be performed to stratify the influence of necrosis, apoptosis, and proliferation in chemosensivity of nephroblastomas. Diagn. Cytopathol. 2010. © 2009 Wiley-Liss, Inc.

The recognition that genetic defects identify some pediatric solid tumors and may represent prognostic markers has provided cytologists with an extra tool for dealing with such tumors. Using some entities as archetypes, we discuss the importance of the association of fine needle biopsy and genetics, in the diagnosis, prognosis, and therapy selection of solid pediatric tumors. Immunocytochemistry is important to differentiate neuroblastoma, PNET/Ewing sarcoma, alveolar rhabdomyosarcoma, lymphoma, and desmoplastic small round cell tumor. Despite its usefulness in many cases, it is not conclusive and some of the aforementioned tumors even share the expression of some antibodies. The detection of specific diagnostic translocations will thus provide additional information and allows a precise cytologic diagnosis. Kidney tumors are also frequent in children. Although no genetic abnormalities have been identified so far in nephroblastoma, other kidney tumors, such as mesoblastic nephroma, whose cytology pattern can masquerade nephroblastoma, are also characterized by specific translocations. Kidney tumors in children have also been associated recently with typical genetic alterations such as Xp11.2RCC. Concerning prognosis and therapy selection, neuroblastoma is a sort of paradigm. The identification of MYCN oncogene status as an independent prognostic factor is determinant, not only in the assessment of clinical evolution, but also in the identification of risk groups, and consequently in the appropriate therapy selection. Cytopathologists should be aware of the genetic alterations characterizing pediatric tumors in order to collect extra material to perform cytogenetics, FISH, PCR, and Southern blotting, to achieve the correct identification of such genetic changes. Diagn. Cytopathol. 2008;36:678–684. © 2008 Wiley-Liss, Inc.

Objective To evaluate advantages and drawbacks of fine needle aspiration cytology (FNAC) with flow cytometry (FC) in our routine, using, whenever possible, histology as the gold standard. Study design From November 2003 to April 2005, we studied, by FNAC and FC, 113 patients with a tentative clinical diagnosis of lymphoproliferative disorder. Excision was performed in 43 patients. Results Excluding the 7 cases in which FNAC/FC made the diagnosis of metastatic carcinoma, a conclusive diagnosis was obtained with FNAC/FC in 87.7% (93 of 106) of patients. Most of these (n = 48) corresponded to reactive processes. Histologic study of 8 cases confirmed FNAC/FC diagnosis of reactive process. Insufficient material was obtained in 8 (7.1%) patients, and discordance between FNAC and FC occurred in 5 (4.4%), leading to inconclusive diagnosis. There was concordance in benign and malignant diagnoses between FNAC/FC and histology in every case in which conclusive diagnosis of FNAC/FC was advanced. Conclusion FNAC and FC together provide a reliable, definitive diagnosis in most cases, obviating, whenever a reactive process is found, unnecessary surgery or follow-up. Histology was useful in the few cases in which FNAC/FC could not reach conclusive diagnosis and in subclassification of specific lymphomas.

BACKGROUND Juvenile xanthogranuloma (JXG) is a rare, benign non-Langerhans cell histiocytosis that usually occurs in the head, neck or upper trunk of neonates and young children. Lesions appear most frequently as solitary cutaneous nodule, but in 12% of cases they are multiple and in 5%, subcutaneous or deep-seated. In 4% of cases they are systemic. Histopathologically, deep lesions tend to be more cellular and monotonous, with fewer Touton cells. Independent of its location, the prognosis is excellent, even after incomplete resection. The lesions usually resolve spontaneously within 3 years of diagnosis. CASE A child was born with a large, deep-seated cervical mass that was initially evaluated by fine needle aspiration biopsy, which disclosed vague, granulomatous aggregates with monotonous, histiocytic CD68-positive cells. The surgical specimen histology revealed a JXG with skeletal muscle invasion. Complete reexcision was performed 2 months later after regrowth of the tumor. CONCLUSION Deep-seated neonatal JXGs are infrequent and may demonstrate aggressive behavior. In this setting fine needle aspiration cytology is a useful tool for the initial differential diagnostic procedure and management.

OBJECTIVE: To verify the possibility of detecting N-myc amplification in fine needle aspiration (FNA) cytology from neuroblastomas by the Southern blotting technique. STUDY DESIGN: Fifteen neuroblastomas diagnosed by FNA in the Department of Pathology, Hospital de S. Joao, between 1990 and 1998, were studied for N-myc amplification using the Southern blotting technique in cytologic and histologic material. RESULTS: DNA extraction from the cytologic material was performed in all cases (N=15). In two cases the quality/quantity of the DNA did not allow the study of N-myc status by the Southern blotting technique. We detected N-myc amplification in 1 of 13 patients (7.6%) from whom material was available for genetic study. CONCLUSION: It is possible to use the Southern blotting technique to demonstrate N-myc amplification in material obtained from FNA of neuroblastomas.

Background Juvenile granulosa cell tumors of the testis are rare gonadal stromal tumors of the pediatric age. They represent the most common neoplasms of the testis in the first 6 months of life. A testicular cystic mass is detected, or it can appear as an abdominal or inguinal mass. Differential diagnosis for testicular tumors at this age includes teratoma, simple cyst, epidermoid cyst, lymphangioma and testicular torsion. Association with ambiguous genitalia and sex chromosome abnormalities has been reported. Orchiectomy alone is recommended, because no case of metastasis or recurrence has been reported. Case We report a case of a 3-month-old male infant with a testicular juvenile granulosa cell tumor mass initially evaluated by fine needle biopsy, which disclosed single or cohesive groups of vimentin, alpha-inhibin and S-100-positive spindle cells with regular nuclei and fine chromatin and inconspicuous nucleoli. Orchiectomy was performed, and histology revealed a juvenile granulosa cell tumor. Conclusion Even though juvenile granulosa cell tumor is the most common neoplasm of the testis in the first 6 months of life, we found no reports describing its cytologic features. In this setting, fine needle aspiration cytology is a useful tool for initial and therapeutic management.

Ewing’s sarcoma/primitive neuroectodermal tumor (PNET) has been the subject of recent reports describing morphologic variants (adamantinoma-like, large cell, spindle cell, sclerosing, clear cell, and vascular-like) of the most classic form, as well as cases displaying unusual morphologic differentiation and atypical immunohistochemical features. We report a case of an uncommon lung tumor in a 20-year-old female, morphologically and molecularly consistent with an Ewing’s sarcoma/PNET tumor with foci of squamous differentiation, and peculiar expression of vimentin, high-molecular-weight keratins, p63, synaptophysin, and chromogranin. This case raises a challenging differential diagnostic problem with therapeutic implications: Should the patient be treated following the protocols for Ewing’s sarcoma/PNET tumors or as for lung carcinoma with neuroendocrine features? The patient we report here was treated with neoadjuvant chemotherapy for Ewing’s sarcoma/PNET according to Euro Ewing 99 study protocol followed by surgery and has no evidence of disease 15 months after the initial diagnosis. This highlights the importance of achieving the correct diagnosis of these atypical tumors using all clinical, morphological, and ancillary methods available to allow for their correct and timely treatment.

Fine needle biopsy (FNB) with cytology has long been regarded as an excellent technique as the first choice for diagnosing adult tumours. Being an inexpensive minimally invasive technique with high accuracy and diagnostic immediacy through rapid on-site evaluation, it is also ideal for implementation in the paediatric setting, particularly in developing countries. Furthermore, it allows complementary and advanced procedures such as flow cytometry, polymerase chain reaction (PCR) or fluorescence in situ hybridization (FISH), among others, which enhances the diagnostic capacity of this technique and gives it a key role in risk stratification and therapeutic decision-making for several tumours. The advantages of FNB are optimized in the setting of a multidisciplinary team where cytologist, clinician and radiologist play leading roles. Paediatric tumours are rare and most ancillary techniques are cost-effective but complex to be implemented in small centres with limited experience in paediatric pathology. Therefore reference centres are essential, in order to establish teams with extensive experience and expertise. Hence, any child with a suspected malignancy should be directly referred to a paediatric oncology unit. Focusing on a practical approach to the assessment of paediatric lymphadenopathies and non-central nervous system solid tumours we review the effectiveness of FNB as applied concurrently with ancillary techniques in a multidisciplinary approach to the diagnosis, prognosis and therapeutic decisions of paediatric tumours and tumour-like lesions.

Peripheral primitive neuroectodermal tumour (PNET) is a malignant mesenchymal tumour. Although PNETs can occur in numerous solid organs, it is an extremely rare tumour entity, specially involving the liver. We report a 19-year-old boy with Hepatitis B Virus (HBV) infection who was diagnosed with a primary PNET of the liver.

Wilms' Tumour (WT) is the most common kidney tumour in childhood, this fact and the embryonic complexity of WT create, whenever one of its three classical components predominates in cytologic smears, difficulties in the differential diagnoses with other less common entities. In the present study, we review the cytological and immunohistochemical characteristics of three children renal tumours, a Clear Cell Sarcoma of the Kidney (CCSK-case1), a Cellular Mesoblastic Nephroma (CMN-case2) and a Metanephric Adenoma (MA-case3) and compare them, for differential diagnostic purposes, with smears of blastematous, mesenchymal and epithelial predominant WTs, previously diagnosed in our Department. In all cases a mass was detected in the abdomen (2 and 8 year old children-cases 1 and 3, respectively), and pre-birth in case 2 (the tumour was detected during pregnancy). Fine needle biopsy was performed followed by routine cytologic examination. The presence of moderate amount of blue pale cytoplasm in neoplastic cells (case1), the presence of tightly cohesive, bland, spindle tumour cells (case2) and the identification of small, well differentiated epithelial tubules with psammoma bodies in case 3, were the main morphologic characteristics that we think represent the most important elements for distinguishing our cases from a WT. Immunoreactivity was only helpful in case 1 as we found a characteristic dot-like pattern positivity for vimentin, in the absence of immunoreactivity for the other markers that are usually positive in WT. Summing up, these three cases demonstrate that cytopathologists should be aware of the occurrence of uncommon renal neoplasms in childhood and should be acquainted with their characteristics, in order to avoid false diagnoses.

A Biopsia Aspirativa Transtorácica por agulha fina é uma técnica que contribui para o diagnóstico de lesões pulmonares benignas ou malignas, através da análise anatomopatológica do material obtido. Este estudo tem como objectivo avaliar indicações, rentabilidade e complicações da Biopsia Aspirativa Transtorácica (BAT) por agulha fina na investigação de lesões pulmonares.Foi efectuada uma análise retrospectiva das biopsias aspirativas efectuadas no Serviço de Pneumologia do Hospital de São João em 740 doentes, entre 1 de Setembro de 1998 e 30 de Junho de 2003. Dos 740 doentes, 374 (50,5%) estavam em regime ambulatório. A BAT foi efectuada com agulha ultrafina, guiada por fluoroscopia e feita análise citopatológica imediata.Esta técnica permitiu estabelecer um diagnóstico em 72,0% dos doentes: destes 81,8% apresentavam patologia maligna e 18,2% benigna. Em 7,8% dos doentes ocorreram complicações: pneumotórax em 5,9% (necessária drenagem torácica em 2,1% dos doentes) e hemoptises em 2,5%.Conclui-se que a BAT tem uma acuidade excelente especialmente para o diagnóstico de lesões malignas, com uma taxa de complicações baixa, pelo que pôde ser efectuada com segurança em doentes ambulatórios. : Transthoracic Fine-Needle Aspiration contributes for the diagnosis of pulmonary malignant and benign lesions through cytologic analysis of the obtained material.The purpose of this study was to determine indications, accuracy and safety of transthoracic fine-needle aspiration (TNA) in the evaluation of patients with pulmonary lesions.The authors made a retrospective chart review of seven hundred and forty patients submitted to TNA in our hospital, between September 1, 1998 and June 30, 2003. Three hundred and seventy four (50,5%) were outpatients. TNA procedure was performed using an ultrathin needle, guided by fluoroscopy and cytopathologic evaluation of samples was immediate in all patients. TNA was diagnostic in 72.0% patients: a diagnosis of malignancy was achieved in 81.8% of those and benign pathology was identified in 18.2%. Complications occurred in 7.8%: pneumothorax in 5,9% patients (chest tube placement required in 2,1%); haemoptysis occurred in 2.5%.We concluded that TNA has an excellent diagnostic accuracy for malignant pulmonary lesions at a low complication rate, therefore it can be safely done in outpatients. Palavras-chave: Biopsia Aspirativa Transtorácica, Fluoroscopia, Key-words: Transthoracic Fine-needle Aspiration Biopsy, Fluoroscopy

Mutations in recently identified genes on chromosomes 2 and 3 seem to be responsible for repair errors (RER+) throughout the genome. This novel genetic mechanism was first reported in hereditary non-polyposis colorectal cancer syndrome and in cancers that are characteristic of this syndrome, such as carcinomas of the right colon, stomach and endometrium. We investigated the frequency of RER+ phenotype in a series of 34 sporadic gastric carcinomas, in an attempt to see if the RER+ cases displayed any particular morphologic features and/or if they showed distinctive clinicopathologic characteristics. Twelve loci were investigated. We found 23 RER- cases (67.6%) and 11 RER+ cases (32.4%). A significant association was found between RER+ carcinomas and localization of the tumors: 9 of the 11 RER+ carcinomas (81.8%) were located at the antrum whereas all the cardiac tumors were RER-. The RER+ phenotype was also significantly related to the presence of moderate/abundant T-cell lymphoid infiltration within the tumors. The 3-year survival rate of patients with RER+ tumors was suggestively longer than that of patients with RER- tumors. No significant relationship was found between several clinicopathologic characteristics of the cases, including age, sex, staging, histologic type and ploidy, despite a trend towards an association between RER+ phenotype and advanced age of the patients and poorly differentiated, intestinal type of the carcinomas. The high frequency of microsatellite instability in sporadic gastric carcinomas supports the involvement of this genetic mechanism in gastric carcinogenesis. Gastric carcinomas with the RER+ phenotype tend to occur as poorly differentiated adenocarcinomas in the antrum of elderly patients, display abundant T-cell infiltration and carry a relatively good prognosis. © 1995 Wiley-Liss, Inc.

Lipofuscin deposition in nerve cells is one of the most reliable and consistent neurocytological features correlated with ageing. Purkinje cells of long-term alcohol-fed rats show large agglomerates of lipofuscin granules after six months of alcohol experiment, whereas in normal biological ageing, this happens only after 25 months of age. Cerebellar interneurons have specific patterns of lipofuscin accumulation during ageing concerning both its morphological type and chronology of deposition. We studied the effects of chronic alcohol treatment on cerebellar interneurons taking particular account of lipofuscin pigment accumulation. Control and alcohol-fed groups for 1, 3, 6, 12 and 18 months were used. A precocious and progressive accumulation of lipofuscin granules occurred in granule, Golgi and basket cells. Stellate cells remained pigment-free. The lipofuscin deposited in the granule and Golgi cells was of the granular type, whereas that of basket and stellate cells was lamellar (fingerprint-like pattern). These results parallel those observed during normal ageing, and reinforce the hypothesis of the existence of a close relationship between chronic alcohol consumption and precocious nerve cell ageing.