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Τρίτη 15 Δεκεμβρίου 2020

Liquid phase human papillomavirus genotype analysis of aspirated metastatic head and neck squamous cell carcinoma: Fine needle aspiration supernatant is a rich source of tumor DNA that can increase the diagnostic yield

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Abstract

Background

Most patients with human papillomavirus (HPV)‐related head and neck squamous cell carcinoma (HNSC) present with lymph node metastasis. In these patients, fine needle aspiration (FNA) is not only a diagnostic tool, but a means for determining HPV status. HPV status, in turn, is used to determine tumor origin, prognosis, and even guide therapy. Thus, the limited sampling afforded by FNA must be optimized to meet heavy clinical demands.

Purpose

The purpose of this study was to determine whether the residual supernatant portion of the FNA could serve as a resource for reliable determination of HPV status

Design/Method

25 FNAs from 24 patients with metastatic HNSC underwent HPV genotyping of post‐centrifuged supernatant fluid from FNA needle rinses. HPV genotyping was performed using two real time PCR‐based assays, the two‐step LightCycler and the one‐step automated cobas HPV tests. HPV status of the supernatant was compared with the paired FNA cell blocks and/or surgical tissue samples.

Results

The supernatant was adequate for HPV testing in 24 (96%) of 25 cases. Of these, 14 (56%) were HPV positive and 11 (44%) negative by the LightCycler assay. HPV16 was the most commonly detected genotype (n = 12). When results of supernatant and paired cell block testing were compared, HPV status was concordant in all cases. The LightCycler method was more sensitive than the cobas assay due to its ability to detect an expanded profile of HPV variant genotypes.

Conclusion

The current standard of practice for patients with HNSC who undergo FNA is to construct a cell block and then discard the supernatant. This supernatant is a rich source of tumor DNA that can be used to detect HPV status. It should not be wasted.

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Utility of p16 and HPV testing in oropharyngeal squamous cell carcinoma

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Background

In the US, 60% to 80% of oropharyngeal squamous cell carcinomas (OPSCCs) are associated with human papillomavirus (HPV). However, until recently, no consensus existed about when and how to test for HPV in patients with head and neck cancers. We aimed to evaluate the use of p16 and HPV testing at our institution because p16 immunohistochemistry is reportedly a reliable surrogate marker for HPV detection in OPSCCs.

Methods

We identified all cases at our institution of primary or metastatic squamous cell carcinoma (SCC) of the head and neck with a concurrent p16 immunostain analysis from January 1, 2013, through August 31, 2018. Patient demographic data, tumor characteristics, p16 result, and any HPV result (in situ hybridization and E6 and E7 RNA test) were captured.

Results

We identified 104 patients. Most primary tumors (53/57 [93.0%]) and metastases (40/47 [85.1%]) were positive for p16. Thirty‐seven cases (35.6%) had reflex high‐risk HPV (HR HPV) testing performed. Of the 35 p16‐positive cases, 6 had discrepant HR HPV results (p16+/HPV). We identified 47 p16 immunostains that were performed on lymph nodes with primary tumors of unknown origin. Most were cytology cases (34/47 [72.3%]), and most were p16 positive (40/47 [85.1%]). Neither tumor differentiation nor tumor keratinization was predictive of p16 positivity. Tumors with basaloid differentiation were universally p16 positive.

Conclusion

p16 immunohistochemistry accurately identifies HPV‐positive OPSCC. Cytology specimens have an important role in characterizing SCC of unknown origin. HR HPV testing is not routinely required, and results may be discrepant with p16 findings.

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Cytomorphology and diagnostic pitfalls of sebaceous and nonsebaceous salivary gland lymphadenoma: A multi‐institutional study

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Abstract

Background

Salivary gland lymphadenoma (LAD) is a rare benign neoplasm comprising sebaceous (SLAD) and nonsebaceous (NSLAD) types. Despite established histologic criteria, limited data on cytomorphology, tumor heterogeneity, and overlap with other entities make the diagnosis of LAD by fine needle aspiration (FNA) challenging. We describe a multi‐institutional cohort of 14 LADs with cytology, clinical, radiologic, and histopathologic data.

Methods

Our cohort included nine SLAD and five NSLAD with corresponding histopathology. Mean patient age and M:F ratio were 60.4 years (range 45‐86 years) and 1:2 for SLADs and 57.4 years (range 42‐80 years) and 1:1.5 for NSLADs, respectively. One NSLAD patient had a germline predisposition for Cowden syndrome. Glass slides and whole slide images of air‐dried Diff‐Quik (DQ), alcohol‐stained Papanicolaou smears (Pap) and cellblocks were reviewed for key cytomorphologic findings.

Results

FNAs from SLAD and NSLADs demonstrated vacuolated and basaloid epithelial clusters within a lymphoid background. Vacuolated cells from SLAD showed sebaceous cells with microvesicular cytoplasm indenting a central nucleus. Vacuolated cells from NSLAD were columnar with eccentric nuclei, corresponding to abluminal glandular cells. SLADs were classified using the Milan System for Reporting Salivary Gland Cytopathology as nondiagnostic (11.1%), nonneoplastic (44.4%), atypia of uncertain significance (AUS) (22.2%), and salivary gland neoplasm of uncertain malignant potential (SUMP) (22.2%). NSLADs were classified as AUS (40%), SUMP (40%) and Benign Neoplasm (20%).

Conclusion

Although rare, knowing the cytologic features of salivary LAD is important to avoid diagnostic pitfalls. Vacuolated cells can be prominent in both SLAD and NSLAD aspirates. Diagnostic issues arise from insufficient sampling of all tumor components leading to marked variation in diagnostic classification of LAD.

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Cytologic features and immunohistochemical findings of epithelioid hemangioendothelioma (EHE) in effusion: A case series

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Abstract

Background

Epithelioid hemangioendothelioma (EHE) is a rare malignant vascular tumor characterized by WWTR1‐CAMTA1, t (1:3) (p36;q25) translocation in 90% of cases. Without prior EHE history, it can mimic other malignant effusions. Recently, CAMTA1 was published as an excellent immunohistochemical surrogate marker for molecular testing for WWTR1‐CAMTA1 fusion in surgical specimens.

Methods

A 6‐year retrospective search using our computer system was performed for cases diagnosed as EHE on effusion cytology and surgical specimens. The clinical presentation, cytologic findings and immunohistochemical stain results, including CAMTA1 were reviewed.

Results

Four pleural and one peritoneal effusions were identified. The median age was 52 years with a female to male ratio of 3:2. Most patients presented with pulmonary symptoms. The cytologic features were non‐specific easily mimicking other malignancies; especially in the absence of known prior malignancy. This was exemplified by one of our cases which was initially misdiagnosed as adenocarcinoma. Intracytoplasmic erythrocytes were present only on the cell blocks but not on cytology. The cytology cell blocks from patients with prior EHE confirmed on surgical biopsies stained positive for vascular markers (CD31, ERG) and CAMTA1.

Conclusion

The features of EHE in effusion are non‐specific and a diagnostic pitfall in cytology. In the absence of prior EHE diagnosis, inclusion of this entity in the differential diagnoses and application of immunohistochemical stain panels will be prudent in avoiding a misdiagnosis. However, in cases with prior EHE diagnosis, CAMTA1 could serve as diagnostic marker; especially on limited cytology material. Additional studies will be helpful in supporting our results.

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Concordance of HPV, conventional smear, colposcopy, and conization results in cervical dysplasia

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Abstract

Background

Cervical cancer screening algorithms are increasingly focused on Human Papillomavirus (HPV)‐based screening while the accuracy of using abnormal cytological findings to detect dysplastic lesions still remains important. This retrospective study correlated the results of conventional cervical cytology, colposcopy guided biopsy, and cold knife conization (CKC) procedures performed in a tertiary center.

Materials and Methods

Data from 9399 patients who underwent screening with conventional cervical cytology between 2010 and 2019 was obtained from the hospital registry. Abnormal cervical cytology and high‐risk HPV DNA genotypes were recorded and their colposcopic and CKC pathology was determined.

Results

Two hundred and ninety two patients underwent colposcopy for abnormal cervical cytology and/or high‐risk HPV positivity. One hundred and twenty three patients were positive for High‐risk HPV. Abnormal cervical cytology was detected in 216 patients. The most common cytological anomaly was atypical squamous cells of undetermined significance (ASCUS) found in 9399 patients (1.39%). It was determined that conventional cytology had a sensitivity of 70.8% and a specificity of 62.2% for the detection of low‐grade lesions, while it had a sensitivity of 72.4% and a specificity of 86.0% for the detection of high‐grade lesions. CKC was applied to 68 patients who were diagnosed with high‐grade squamous intraepithelial lesions (HSIL) as a result of the colposcopy. As a result of CKC, a high‐grade lesion was detected in 73.5% of these patients.

Conclusion

Conventional cervical cytology and colposcopy exhibited higher accuracy as the severity of lesions increased. Detection of HPV may prevent unnecessary surgical procedures, especially with ASCUS.

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Cytological diagnosis of angiomatoid fibrous histiocytom

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Abstract

Angiomatoid fibrous histiocytoma (AFH) is an unusual superficially located tumor primarily affecting children and young adults. It grows slowly and most often occurs on the extremities. There is a paucity of literature on the cytological findings of AFH owing to the rarity of the lesion and its superficial location which makes it easier to perform the biopsy. Here, we present a case of AFH in a 7‐year‐old girl who presented with a left upper arm swelling. The cytology of this tumor along with histopathologic correlation and review of literature is discussed.

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Cytological diagnosis of angiomatoid fibrous histiocytoma

alwin shared this article with you from Inoreader

Abstract

Angiomatoid fibrous histiocytoma (AFH) is an unusual superficially located tumor primarily affecting children and young adults. It grows slowly and most often occurs on the extremities. There is a paucity of literature on the cytological findings of AFH owing to the rarity of the lesion and its superficial location which makes it easier to perform the biopsy. Here, we present a case of AFH in a 7‐year‐old girl who presented with a left upper arm swelling. The cytology of this tumor along with histopathologic correlation and review of literature is discussed.

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Fine needle aspiration cytology of cervical lymph nodes: Comparison of liquid based cytology (SurePath) and conventional preparation

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Abstract

Background

Fine needle aspiration cytology (FNAC) is the first diagnostic step in patient with cervical lymphadenopathy because of its simplicity, safety and early availability of the results. Liquid‐based cytology (LBC) is an alternative processing method which is used for both gynecological and nongynecological samples. Literature reviewed show few studies comparing LBC with conventional preparation (CP).

Aim

The present study was undertaken to evaluate the efficacy of LBC and comparison of LBC and CP in cervical lymphadenopathy.

Materials and Methods

In this prospective study, a total of 75 cases of FNAC with cervical lymphadenopathy were included. The first pass was used for CP followed by LBC with the use of SurePath (SP) technique. Both the smears were compared for cellularity, background containing blood, cell debris, lymphoglandular bodies, stromal fragments, cytoarchitectural pattern, etc., by semiquantitative scoring system.

Results

There was no statistical difference in the cellularity, cell architecture, and monolayer cells (P > .05). On the basis of background containing blood, cell debris, lympho‐glandular bodies, stromal fragments (P < .001), nuclear, and cytoplasmic details (P < .05), LBC was found to be superior to CP.

Conclusion

LBC is a relatively simple technique and superior to CP in respect of better nuclear and cytoplasmic details with loss of background blood and debris. It has a diagnostic accuracy equivalent to that of CP. However, use of both LBC and CP can result in better diagnostic accuracy.

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Loss of CD38 expression in myelomatous pleural effusion in a patient with myeloma treated with daratumumab: Report of a case

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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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