Publications by authors named "Jaylou Velez-Torres"

DEK::AFF2 fusion nonkeratinizing squamous cell carcinoma (NKSCC) is an emerging entity in the sinonasal tract, temporal bone, and skull base. However, the clinical behavior of these tumors has not been well studied. Here, we report the largest cohort of DEK::AFF2 carcinomas to determine if morphology, mitotic rate, and/or Ki-67 IHC are associated with patient outcomes, including a comparison with high-risk human papillomavirus (HPV)-associated and independent patients.

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Sarcomas are a heterogeneous group of neoplasms that develop from bone and soft tissue. Approximately 80% of sarcomas affect soft tissue, with liposarcoma being one of the most common types, accounting for approximately 13-20% of all soft-tissue sarcomas. Per the World Health Organization, liposarcoma can be broadly classified into four different subtypes based on histologic examination: well-differentiated liposarcoma (WDLS)/atypical lipomatous tumors (ALT), dedifferentiated liposarcoma (DDLS), myxoid liposarcoma (MLS), and pleomorphic liposarcoma (PLS).

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Cutaneous squamous cell carcinoma (cSCC) is the second most common skin cancer, with a lifetime risk of 14-20% that is rising every year. Although prognosis for cSCC is generally good, certain high-risk features of cSCC portend increased rates of nodal and distant metastasis, recurrence, and disease-specific mortality. One such high-risk factor is perineural invasion (PNI), which is broadly defined as the invasion of cancer into and around nerves.

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Sinonasal bone lesions encompass a diverse spectrum, ranging from nonneoplastic and benign conditions to aggressive, malignant neoplasms. These lesions can affect individuals across various age groups, from pediatric to adult patients. Recognizing these entities is crucial, given the variability in treatment approaches, recurrence rates, and prognoses.

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Purpose: Invasive fungal sinusitis (IFS) is associated with high rates of morbidity and mortality and often presents with orbital apex syndrome. Prompt diagnosis and management are crucial to prevent irreversible visual loss. We report a case of an immunosuppressed patient with rapidly progressive severe visual loss associated with frontal lobe cerebritis and leptomeningitis related to IFS, causing an adjacent compressive inflammatory optic neuropathy, which was treated successfully by large-dose corticosteroids.

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Mesenchymal neoplasms within the genitourinary tract include a wide spectrum of tumors, ranging from benign to malignant, and tumors of uncertain malignant potential. Except for stromal tumors of the prostate, which originate from the specific prostatic stroma, these neoplasms generally resemble their counterparts in other body sites. The rarity of these neoplasms and the limitation associated with small biopsy samples present unique diagnostic challenges for pathologists.

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Introduction: Thyroid cytopathology cases with suspicious for malignancy (SFM) diagnosis often result in resection. However, molecular testing offers details that may provide additional insights. In this study, the molecular profiles of SFM cases from two institutions that routinely used ThyroSeq v3 (TSV3) were examined.

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Article Synopsis
  • - Recent advancements in cytopathology involve developing consensus rules for diagnosing specimens, improving accuracy and consistency in diagnoses.
  • - These diagnostic systems aim to minimize variability among observers, eliminate vague categories, reduce "atypical" diagnoses, and standardize communication through quantitative scoring.
  • - Computational pathology emerges from these improvements, offering standardized and reproducible diagnoses using quantitative methods, thereby reducing human bias.
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  • Thyroid cytology focuses on diagnosing thyroid nodules, distinguishing between benign and malignant growths, and assessing risk when a clear diagnosis can't be made.
  • Fine-needle aspiration and standardized reporting systems like the Bethesda System streamline the diagnosis process for these nodules.
  • Recent advancements in molecular testing have become important for categorizing patients' risks of malignancy, aiding in the decision-making for treatment.
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  • - The third edition of The Bethesda System classifies atypia of undetermined significance (AUS) by nuclear atypia, showing that cases with nuclear atypia (AUS-Nuclear) have different cancer risks compared to those without (AUS-Other).
  • - A study analyzed 93 follicular neoplasm (FN) aspirates, finding that FN-Nuclear cases (14%) had significantly different benign call rates and positive rates compared to FN-Other cases (86%), alongside higher molecular-derived and overall risk of malignancy.
  • - Results indicated that FN-Nuclear has a substantially higher risk of malignancy than FN-Other, supporting the need for subclassifying follicular neoplasms based on nuclear atypia presence.
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Neoplasms of the tongue are relatively common, and the vast majority are epithelial in phenotype. Although uncommon, a diverse and distinctive array of mesenchymal neoplasms arises in this anatomic site. To increase our understanding of these lesions, we reviewed our experience of MNs of the tongue and described their clinicopathologic features.

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  • The study explores the effectiveness of the Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) in evaluating fine-needle aspiration cytology (FNAC) of minor salivary glands (MiSGs), which is less understood compared to major salivary glands (MSGs).
  • A review of 43 MiSG FNAC cases showed high diagnostic accuracy and identified a risk of malignancy of 39%.
  • The findings suggest that while the MSRSGC is useful for categorizing MiSG lesions, certain characteristics, like mucinous cyst contents, may require special attention compared to MSGs.
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  • - NUT carcinoma (NC) is a rare and aggressive cancer associated with a specific gene fusion resulting from a chromosomal translocation (t(15:19)), primarily found in the upper part of the body but also emerging in other areas.
  • - Diagnosing NC is difficult based on appearance alone, but can be effectively done using specialized tests like immunohistochemistry for the NUT protein or by detecting the BRD4::NUTM1 fusion gene.
  • - A recent case involved a 39-year-old man previously diagnosed with sinonasal squamous cell carcinoma, whose condition was reclassified to NC after further examination and testing, demonstrating the importance of accurate diagnosis for effective targeted treatment options currently in development.
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  • - The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) suggests that atypia of undetermined significance (AUS) should not exceed 10%, but some recent findings indicate that it might often be overused, especially when molecular testing results are low.
  • - A study analyzed the cytology cases over 4.5 years, examining AUS rates and positive call rates for different cytopathologists, revealing a wide range of AUS rates (from 9.9% to 36.8%) and an overall positive call rate of 24%.
  • - The findings suggest that monitoring AUS rates alongside positive call rates can provide a valuable way to evaluate and enhance the performance of cytology labs and individual cytopath
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Article Synopsis
  • - The study focuses on the use of the atypia of undetermined significance (AUS) category in thyroid evaluations, emphasizing the need to keep the AUS rate at or below 10% to enhance diagnostic quality and minimize variability.
  • - Researchers analyzed 2,248 thyroid aspirates, calculating the AUS:Malignant (AUS:M) ratio, ThyroSeq v3 positive call rate (PCR), molecular-derived risk of malignancy (MDROM), and overall risk of malignancy (ROM) across different cytopathologists (CPs).
  • - Results showed a moderate correlation between AUS:M ratios and TSV3 PCR/MDROM, highlighting the value of multiple metrics for assessing diagnostic performance and tailoring feedback for each cytopath
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Salivary gland cancers are rare in general and salivary duct carcinoma and epithelial myoepithelial carcinomas are rare subtypes. This topic discussion will review the characteristics of these uncommon cancers. Additionally, it will briefly discuss available guidelines for salivary cancers and summarize author opinions on the role of adjuvant radiation therapy for these cases.

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We report the clinicopathologic and immunohistochemical features of 18 cases of confirmed primary synovial sarcoma of the gastrointestinal tract. The neoplasms arose in 10 women and 8 men ranging in age from 23 to 81 years (mean: 50; median: 57.5 years).

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  • Basaloid salivary gland neoplasm of uncertain malignant potential (B-SUMP) includes pleomorphic adenomas (PAs) and other neoplasms; PLAG1 immunocytochemistry (ICC) is being studied to help differentiate between these neoplasms.* -
  • In a study of 45 B-SUMP cytology aspirates, PLAG1 staining was positive in 29 cases (64%), primarily in PAs, and showed good sensitivity (87%) and specificity (86%) for identifying benign tumors.* -
  • The findings suggest that a strong PLAG1 positive result supports a benign diagnosis of PA, whereas PLAG1-negative or equivocal results indicate that the tumors should remain classified as B
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  • TRPS1 is identified as a promising marker for breast carcinoma and exhibits distinct expression patterns in various salivary gland tumors, indicating potential diagnostic value.
  • In a study of 110 salivary gland tumors, TRPS1 showed strong expression in pleomorphic adenomas and a range of malignant tumors but was absent or low in tumors like Warthin and secretory carcinomas.
  • The research highlights that TRPS1 could be significant in differentiating tumor types due to its variable expression in both benign and malignant salivary gland tumors, as well as in metastatic cases.
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  • ThyroSeq testing evaluates the risk of cancer in thyroid nodules classified as Bethesda category IV based on cytology, focusing on its association with specific molecular changes and overall malignancy risk.
  • The study analyzed 92 fine-needle aspirations (FNAC) from BIV nodules, identifying various subcategories like follicular neoplasm (FN) and oncocytic follicular neoplasm (OFN), revealing differences in malignancy risks and molecular alterations between them.
  • Findings showed that oncocytic follicular neoplasms had a lower malignancy risk and different molecular mutations compared to follicular neoplasms, indicating the need for subcategory differentiation in the assessment process.*
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Sinonasal myxoma (SNM) is a rare benign mesenchymal tumor that arises in the sinonasal cavity or maxilla and almost exclusively affects young children. Currently, it is considered a specific entity, but its molecular characteristics have not been reported. Lesions diagnosed as SNM and odontogenic myxoma/fibromyxoma were identified from the participating institutions, and the clinicopathologic features were recorded.

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Background: Sinonasal adenosquamous carcinoma is rare, and there are almost no studies detailing morphology or characterizing their genetic driver events. Further, many authors have termed sinonasal tumors with combined squamous carcinoma and glands as mucoepidermoid carcinoma but none have analyzed for the presence of MAML2 rearrangement.

Methods: Cases from 2014 to 2020 were collected and diagnosed using World Health Organization criteria.

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Risk stratification is essential in the preoperative evaluation and management of thyroid nodules, most of which are benign. Advances in DNA and RNA sequencing have shed light on the molecular drivers of thyroid cancer. Molecular testing of cytologically indeterminate nodules has helped refine risk stratification, triage patients for surgery, and determine the extent of surgery.

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  • Identifying metastatic breast carcinoma (mBC) in malignant effusion cytology (MEC) is crucial for assessing prognosis and treatment, and recent studies have highlighted TRPS1 as a promising marker for both primary and metastatic breast cancer.
  • The study analyzed 82 MEC specimens, comparing TRPS1 expression in mBC to metastatic carcinoma of Müllerian origin (mMC) and metastatic pulmonary adenocarcinoma (mPAC), finding that TRPS1 successfully identified mBC in 100% of cases but also showed significant expression in mMC.
  • While TRPS1 proves to be a sensitive marker for mBC, its expression in mMC poses a diagnostic challenge, suggesting that using a combination of immunoperoxidase panels
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  • HR-HPV status is essential for diagnosing oropharyngeal squamous cell carcinoma (OPSCC), and fine-needle aspiration cytology (FNAC) is often the first diagnostic step, though p16 interpretation can be problematic.* -
  • A study assessed the effectiveness of HR-HPV RNA in situ hybridization (ISH) on smears and liquid-based cytology (LBC) samples from HPV-related and HPV-negative SCC, finding 84% positivity in HPV-related cases.* -
  • The findings suggest that HR-HPV ISH can be a reliable initial test for HPV status in FNAC specimens, especially when cell blocks aren't available, although interpreting low signal counts remains challenging.*
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