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Τρίτη 15 Δεκεμβρίου 2020

Cytological diagnosis of Xp11 translocation renal cell carcinoma

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Abstract

Background

Renal cell carcinoma (RCC) constitutes 3% of all cancers, with a higher incidence in patients with age between 60 and 70 years. RCC frequently present as a metastatic tumor at diagnosis, and bones represent one of the most frequent sites. Many cases, mainly in young patients, includes the Xp11 translocation RCC. The cytological diagnosis of Xp11 translocation RCC in adult population it is rarely performed, likely for the morphological overlap with other adult renal cell carcinoma subtypes.

Methods

We retrospectively analyze a series of 92 adult patients with metastatic bone tumors, diagnosed on fine‐needle aspiration cytology (FNAC) samples, focusing mainly on the cytological, immunophenotypic and molecular features of Xp11 translocation RCC.

Results

In our series 6 of 92 (6.5%) cases were metastatic RCC (mRCC), among them 2 cases were metastasis from Xp11translocation RCC. Those cases showed a bloody background, with several groups of atypical cells arranged in syncytial groups or in papillary groups composed by atypical cells with abundant cytoplasm, with scattered clear cells. TFE3 was positive on immunocytochemical analysis and specific translocation t(Xp11.23) was detected by FISH analysis.

Conclusions

In adult patients with mRCC, it is necessary to consider also Xp11 translocation RCC among the diagnostic hypotheses. FNAC represents a valid tool to investigate bone lesions but cytological features of Xp11 translocation RCC are still poorly described and must necessarily be better defined.

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Transitioning from follicular lesion of undetermined significance to atypia of undetermined significance with subclassified atypia on interobserver concordance, rates of neoplasia, and rates of malignancy

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Abstract

Introduction

The rate of malignancy (ROM) in thyroid fine needle aspirations (FNA) classified under "atypia of undetermined significance (AUS)/follicular lesion of undetermined significance (FLUS), including Hürthle cell type (HLUS)" category of The Bethesda system for reporting thyroid cytopathology (TBSRTC) in literature is highly variable. The 2018 TBSRTC was updated to note a preferred categorization of AUS cases into subcategories. This study evaluates the impact of AUS subclassification on rates of neoplasia (RON), rates of malignancy (ROM), and cytopathologist (CP) concordance.

Methods

93 thyroid FNAs previously diagnosed as FLUS or HLUS from January 1, 2013 to December 31, 2014 with subsequent surgical resection were identified. Four CPs reclassified these cases using TBSRTC AUS subcategories of follicular cells with architectural and/or cytologic atypia, predominantly Hürthle cells, and atypical lymphocytes. RON and ROM were calculated for each diagnostic subcategory for each CP.

Results

The original RON and ROM for FLUS cases were 31.4% and 15.1% and were 77.8% and 22.2% for HLUS cases. 10.8% of cases showed diagnostic concordance amongst the four CPs. The most frequently utilized subcategory was architectural atypia. RON ranges for architectural atypia, cytologic atypia, architectural and cytologic atypia, and predominantly Hürthle cells were 28.1% to 35.7%, 0% to 33.3%, 35.3% to 66.7%, and 57.1% to 87.5%. The range of ROM was 13.9% to 16.7%, 0% to 33%, 0% to 42.9%, and 0% to 25%, respectively.

Conclusion

RON for AUS predominantly Hürthle cells subcategory was higher than previously reported, which may indicate use for tailored patient management pathways. AUS subclassification can result in significant interobserver variability. Therefore, institutions may consider consensus/quality control sessions to optimize diagnostic concordance.

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Cytologic diagnosis of medullary thyroid carcinoma

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Abstract

Background

The accurate preoperative identification of medullary thyroid carcinoma (MTC) is challenging due to the rarity of tumor and variable cytologic appearance. The Asian experience with diagnosing MTC by fine‐needle aspiration (FNA) was scarcely reported.

Methods

Cases of MTC with available FNA slides were enrolled from 13 hospitals representing 8 Asia‐Pacific countries. Clinicopathological information, including sample preparation technique, staining method, original cytologic diagnosis and review diagnosis were collected.

Results

Of a total of 145 MTC cases retrospectively recruited, 99 (68.3%) were initially interpreted as MTC/suspicious for MTC (S‐MTC). The distribution of original FNA diagnostic categories was not associated with the staining method or sample preparation technique. The staining methods used were Papanicolaou, hematoxylin‐eosin and Romanowsky stains. Liquid‐based cytology (LBC) was used only in three countries. After reviewing all cases, the diagnostic rate of MTC/S‐MTC increased to 91.7% (133/145). Cases with initially unrecognized MTC had either marked pleomorphism or cytology mimicking papillary carcinoma or follicular neoplasm. Although LBC provided certain benefits, there was no significant difference in diagnostic accuracy between conventional smear and LBC. Immunocytochemistry was available in 38 cases (26.2%), all of which were correctly recognized as MTC.

Conclusion

Our report summarizes how MTC is handled in contemporary Asian thyroid FNA practice. Although the detection rate of MTC by cytology alone is less satisfactory, integration with ancillary tests could achieve an excellent performance. The recognition of constitutive cytomorphologic features is needed for each cytopreparatory method, which may result in a lower threshold to initiate further workup for MTC.

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Osteosarcoma pleural effusion: A diagnostic challenge with some cytologic hints

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Abstract

Pleural effusions can be the first manifestation, recurrence, or metastasis of small round cell sarcomas in children. The most common are Ewing sarcoma, neuroblastoma, and rhabdomyosarcoma. The cytomorphology is variable, the cells can be cohesive, single cells, small or large, morphologically mimicking lymphomas, carcinomas, melanomas, and mesothelioma depending on the sarcoma involved. Osteosarcomas are rare. Their rarity, variable histomorphologic features, immunophenotypic heterogeneity, being of osseous or extraosseous origin and focality of malignant osteoid matrix make their cytologic recognition a diagnostic challenge. They can be confused with small round cell sarcomas, may be misinterpreted as degenerative inflammatory cells, or masked by florid reactive mesothelial hyperplasia particularly in pleural effusions. However, attention to certain cytomorphologic features in smears and cellblock sections should raise suspicion. We report a case of a 9‐year‐old child who pr esented with cough, chest pain and breathing difficulty, left pleural effusion, a collapsed consolidated lower lung lobe, and a clinical impression of pneumonia. Pleural fluid cytology was initially reported as inflammatory effusion with florid reactive mesothelial hyperplasia. Tissue biopsy of the lung mass showed histomorphologic features consistent with osteosarcoma. A careful look at the cytology materials and cellblock sections showed helpful cytomorphologic features that were masked by florid reactive mesothelial cells and misinterpreted as degenerative inflammatory lymphocytes. An extracellular matrix was a helpful hint. Malignant pleural effusion secondary to osteosarcoma is rare. Cytologic examination may help reach the correct diagnosis if the smears and cellblock sections are carefully evaluated for certain helpful cytomorphologic features, particularly osteoid matrix.

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Clear‐cell chondrosarcomas: Fine‐needle aspiration cytology, radiological findings, and patient demographics of a rare entity

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Abstract

Background

Clear‐cell chondrosarcomas (CCCSs) constitute a very rare subtype of chondrosarcoma. CCCS may radiologically mimic chondroblastoma, and given the difference in surgical approach, it is important to distinguish these two entities preoperatively.

Design

Using the institutional digital records, we identified histologically verified CCCS between 1996 and 2013, where preoperative fine‐needle aspiration (FNA) cytology was available. Clinical characteristics were categorized and described, and FNAs were reviewed by a panel of senior cytopathologists. In addition, corresponding radiological imaging was reviewed by senior radiologists, and a literature review on CCCS and chondroblastoma was conducted.

Results

A total of seven CCCS FNAs were identified from six patients. The cytomorphology showed low to intermediate cellular smears of clusters and single round or oval tumor cells. Tumor cells had rounded (sometimes binucleated) nuclei with limited pleomorphism and rich vacuolated cytoplasm. Chondroid background matrix was always found. While CCCS patients had a significantly higher age at diagnosis compared to chondroblastoma, no age cut‐off would distinctly separate the two.

Conclusions

CCCS has distinguished cytomorphological features on FNA smears. CCCS should be considered as a possible differential diagnosis in adults (>25 years) with a radiological suspicion of chondroblastoma. Since radiology and patient age cannot conclusively distinguish CCCS from chondroblastoma, FNA may prove an important tool for correct preoperative diagnosis of CCCS.

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Fine‐needle aspiration of parathyroid adenomas: Indications as a diagnostic approach

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Abstract

Background

We aimed to determine the indication of fine‐needle aspiration (FNA) for parathyroid adenoma (PA)‐suspected nodules and the cytological features of PA, and to discuss the ancillary techniques for diagnostic confirmation.

Method

Clinical, cytological, and histological examinations of 15 PA patients (4.0% of all PA resected patients) were conducted through FNA on 16 nodules. We also examined the cytological preparations of 10 follicular neoplasms (FNs) and 10 poorly differentiated thyroid carcinomas (PDTCs).

Results

FNA was performed to detect PA in nine (56.3%) nodules. The remaining seven (43.8%) nodules underwent FNA for lesions considered as thyroid nodules or lymph nodes. The levels of parathyroid hormone (PTH) in the aspiration needle washout fluid were observably high, except for that from one nodule with unsatisfactory FNA. Cytologically, the incidences of wedge pattern (86.7%) and salt and pepper chromatin (86.7%) in PAs were significantly higher than in FNs and PDTCs. In contrast, the appearance of colloid globules and nuclear grooves was less frequent than that of FNs and PDTCs. GATA‐3 expression was intense in all PAs that immunocytochemistry were performed. Histologically, capsular invasion and/or laceration, tumor seeding, granulation tissue, and fibrosis were observed.

Conclusions

When PA localization is unusual or inconclusive despite extensive imaging, FNA may be performed. We asserted that wedge pattern, salt and pepper chromatin, and the absence of colloid globules and nuclear grooves are diagnostic cytological indicators of PA rather than of FN or PDTC. We recommend PTH measurements using needle washout fluid for PA‐suspected nodules, and immunocytochemistry with the GATA‐3 antibody for cytologically PA‐suspected nodules.

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Fine‐needle aspiration cytology of melanotic schwannoma in the submandibular gland

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Rosai‐Dorfman disease diagnosed by fine needle aspiration

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The health-related quality of life and psychological profile in patients with oropharyngeal Pemphigus Vulgaris in complete clinical remission: a case-control study.

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The health-related quality of life and psychological profile in patients with oropharyngeal Pemphigus Vulgaris in complete clinical remission: a case-control study.

J Oral Pathol Med. 2020 Dec 13;:

Authors: Calabria E, Adamo D, Leuci S, Pecoraro G, Aria M, Coppola N, Mignogna MD

Abstract
BACKGROUND: Pemphigus Vulgaris (PV) is a severe autoimmune blistering disease which may affect the patient's health related quality of life (HR-QoL) and mood even during quiescent disease activity. We sought to evaluate HR-QoL, quality of sleep (QoS), anxiety and depression in oropharyngeal PV patients (OPV) in complete clinical remission on or off therapy (CCR-on, CCR-off).
METHODS: 30 OPV patients and 30 healthy controls were enrolled. The Short Form 36 Health Survey Questionnaire (SF-36), Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS), Hamilton Rating Scale for Depression (HAM-D) and Hamilton Rating Scale for Anxiety (HAM-A) were administered. Descriptive statistics, including the Mann-Whitney U test and hierarchical multiple linear regression analysis, were used.
RESULTS: The OPV patients had statistically lower scores in the majority of items of the SF-36 and higher scores in the PSQI, HAM-A and HAM-D than the healthy controls (p<0.004; p<0.001; and p<0.001 respectively). Nine (30%) of the OPV patients were poor sleepers (PSQI >5) with higher scores in the SF-36, HAM-A and HAM-D compared with the good sleepers (PSQI<5). No statistically significant difference was detected in the OPV group when comparing patients in CCR-on and CCR-off, or in consideration of the cumulative time of the disease duration (< 1, 1-3 and > 3 years).
CONCLUSIONS: HR-QoL of OPV patients can be impaired even over periods of relatively well-being, therefore, clinicians should monitor periodically their HR-QoL, QoS and psychological profile in order to guide treatments also towards improving their HR-QoL.

PMID: 33314320 [PubMed - as supplied by publisher]

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Topical photodynamic therapy in the treatment of benign oral mucosal lesions: a systematic review.

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Topical photodynamic therapy in the treatment of benign oral mucosal lesions: a systematic review.

J Oral Pathol Med. 2020 Dec 13;:

Authors: Romano A, Di Stasio D, Lauritano D, Lajolo C, Fiori F, Gentile E, Lucchese A

Abstract
BACKGROUND: The introduction of Photodynamic therapy (PDT) in various branches of the dental field such as endodontics, implantology, periodontology, and restorative dentistry and oral medicine has become useful in recent decades. This systematic review presents an overview of the literature to evaluate the usefulness of topical PDT for the treatment of benign oral soft tissue lesions and to identify limitations in prior studies to improve PDT applications.
METHODS: We performed a review of the literature using different search engines (PubMed, ISI Web of Science, and the Cochrane Library) employing MeSH terms such as "Photodynamic therapy" and "PDT" in conjunction with other terms. We utilized the Population, Intervention, Comparison, Outcomes, and Study design (PICOS) method to define our study eligibility criteria.
RESULTS: Initial results were 1513. Finally, there were only 21 studies that met our selection criteria. We divided the 21 selected items into two groups: inflammatory diseases and infective diseases.
CONCLUSIONS: Although topical PDT is an easy to perform and well-tolerated treatment and appears to be a valid method with promising results in the treatment of benign lesions of the oral cavity's soft tissues, further studies are needed to complete the current knowledge of this technique.

PMID: 33314331 [PubMed - as supplied by publisher]

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Clinicopathological analysis and survival outcomes of primary salivary gland tumors in pediatric patients: a systematic review.

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Clinicopathological analysis and survival outcomes of primary salivary gland tumors in pediatric patients: a systematic review.

J Oral Pathol Med. 2020 Dec 12;:

Authors: Louredo BVR, Santos-Silva AR, Vargas PA, Lopes MA, Martins MD, Guerra ENDS, Prado Ribeiro AC, Brandão TB, de Mendonça RMH, Kowalski LP, Speight PM, Khurram SA, Pérez-de-Oliveira ME

Abstract
BACKGROUND: Salivary gland tumors are a diverse group of uncommon neoplasms that are rare in pediatric patients. The aim of this study was to evaluate the clinicopathological profile and survival outcomes of pediatric patients affected by salivary gland tumors.
MATERIALS AND METHODS: An extensive search was carried out using the MEDLINE/PubMed, EMBASE, Scopus databases, and grey literature. The risk of bias was available in all papers included.
RESULTS: A total of 2,830 articles were initially retrieved with 54 remaining for data extraction, resulting in 2,937 cases. This comprised forty-five case series' and nine cohort studies. These tumors were slightly more prevalent in females (57.4%). The patients' age ranged from 0.3 to 19 years old, with a mean age of 13.3 years. Parotid was the most affected site (81.9%), and 99.2% of cases clinically exhibited a swelling. Presence of pain/tenderness was reported in 13.5% of the cases, with an average duration of 12.6 months for the appearance of symptoms. Most of the reported cases were malignant tumors (75.4%), with mucoepidermoid carcinoma the most common tumor of all tumors (44.8%), followed by pleomorphic adenoma (24.1%). Surgery alone was the leading treatment choice in 74.9% cases and the 5-year overall survival rate of patients was 93.1%. Patients with symptoms (P =0.001), local recurrence (P <0.001), metastasis (P <0.001), and those not undergoing surgery or surgery combined with radiotherapy (P <0.001) showed lower survival rates.
CONCLUSION: The pediatric patients present a high frequency of malignant salivary neoplasms and a high overall survival rate.

PMID: 33314344 [PubMed - as supplied by publisher]

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Minimal Residual Disease Eradication by Azacitidine Maintenance in a Patient with Core-Binding Factor Acute Myeloid Leukemia

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Although core-binding factor AML (CBF-AML) has a favorable outcome, disease relapses occur in up to 35% of patients. Minimal residual disease (MRD) monitoring is one of the important tools to enable us to identify patients at high risk of relapse. Real-time quantitative PCR allows MRD to be measured with high sensitivity in CBF-AML. If the patient with CBF-AML is in complete morphologic remission but MRD positive at the end of treatment, what to do for those is still uncertain. Preemptive intervention approaches such as allogeneic hematopoietic stem cell transplantation or intensive chemotherapy could be an option or another strategy might be just follow-up until overt relapse developed. Although using hypomethylating agents as a maintenance therapy has not been widely explored, here, we r...
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