Publications by authors named "Darcy Kerr"

Article Synopsis
  • In a study of six EAPDC cases, histological features were similar to axial PDC, showing malignant cell characteristics, and genetic analysis revealed common loss of the SMARCB1 gene.
  • Follow-up revealed significant clinical challenges, including local recurrences and metastasis within months of surgery, highlighting the aggressive nature and poor prognosis of these rare tumors.
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Inflammatory myofibroblastic tumor (IMT) is a rare mesenchymal neoplasm that can locally recur and potentially metastasize. Approximately 50% of IMTs harbor rearrangements in the gene encoding anaplastic lymphoma kinase (ALK), a receptor tyrosine kinase that can be therapeutically targeted with tyrosine kinase inhibitors (TKIs). With successful application of TKI in ALK-positive nonsmall cell carcinoma (NSCLC), ALK inhibitors are often first-line treatments for patients with unresectable or metastatic IMTs.

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  • Poorly differentiated chordoma is a rare and aggressive type of tumor usually found in young patients, mainly at the skull base and cervical spine.
  • A case study of a 60-year-old patient initially misdiagnosed with osteoarthritis revealed complex tumor characteristics that led to reconsideration of its diagnosis.
  • The importance of accurate immunohistochemical testing, specifically for brachyury, is emphasized for correctly diagnosing this uncommon tumor and for understanding its unique molecular profile, which could aid in future analyses.
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  • * Recent cases of the tumor were reported in five patients (from ages 8 to 69) who presented with solitary masses on various body parts, with all undergoing surgical excision and showing no disease upon follow-up.
  • * The study reveals unique morphological and molecular characteristics of these tumors and suggests rebranding the tumor as "superficial neurocristic FET::ETS fusion tumor" to better reflect its distinct nature.
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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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Article Synopsis
  • Mesenchymal neoplasms in the nasal cavity, such as angioleiomyoma (AL) and angiomyolipoma (AML), are rare tumors that involve vascular, smooth muscle, and adipocytic components, with unclear classifications as hamartomas or true neoplasms due to limited genetic research.
  • A multi-institutional retrospective study collected data on 15 nasal cavity lesions, primarily affecting older males with obstructive symptoms, and analyzed tissue samples for genetic features.
  • The study discovered that most cases had a high proportion of smooth muscle, with some showing additional components like blood vessels and fatty tissue, while all lesions were positive for smooth muscle markers, indicating their muscular origin.
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  • Ossifying fibromyxoid tumor (OFMT) is a rare soft tissue tumor often found in subcutaneous tissues, characterized by bland ovoid cells and metaplastic bone.
  • The tumors typically pose diagnostic challenges when they present with unusual characteristics, necessitating the detection of specific gene fusions for accurate diagnosis.
  • This study discusses six cases of OFMT with atypical features and emphasizes the importance of molecular testing in confirming diagnoses, highlighting a case with a novel gene fusion (EPC1::SUZ12).
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Purpose: Mesenchymal neoplasms composed of vascular, smooth muscle, and adipocytic components are uncommon in the nasal cavity. While angioleiomyoma (AL) is a smooth muscle tumor in the Head & Neck WHO classification, it is considered of pericytic origin in the Skin as well as Soft Tissue and Bone classifications. For nasal AL with an adipocytic component, the terms AL with adipocytic differentiation and angiomyolipoma (AML) have been applied, among others.

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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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Context.—: Detecting copy number variations (CNVs) at certain loci can aid in the diagnosis of histologically ambiguous melanocytic neoplasms. Droplet digital polymerase chain reaction (ddPCR) is a rapid, automated, and inexpensive method for CNV detection in other cancers, but not yet melanoma.

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Background: Differentiated high-grade thyroid carcinoma (DHGTC) is recently recognized by the World Health Organization (WHO) as a subgroup of thyroid carcinomas with high-grade features while retaining the architectural and/or cytologic features of well-differentiated follicular-cell-derived tumors. The cytomorphology of DHGTC is not well documented despite potential implications for patient triage and management.

Methods: The pathology archives of six institutions were searched for cases diagnosed on resection as "high-grade thyroid carcinoma" using WHO criteria.

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Article Synopsis
  • 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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Interdisciplinary care in the management of complex pathology is critical to ensure patients receive predictable, evidence-based treatment. The authors report the unique case of a healthy 38-year-old female patient who presented to a private endodontics practice with a radiopaque lesion associated with the root of tooth No. 20.

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Atypical spindle cell/pleomorphic lipomatous tumor (ASPLT) is a recently described adipocytic tumor predominantly affecting the subcutaneous soft tissues of adults. Previous studies have shown that ASPLT follows a benign clinical course with a 4% to 12% local recurrence rate and no risk of dedifferentiation. Herein, we describe the clinicopathologic and molecular findings of 4 cases of ASPLT showing unequivocal sarcomatous transformation.

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GLI1-altered mesenchymal tumors comprise an emerging group of neoplasms characterized by fusions or amplifications involving GLI1, a gene that encodes a key regulator of the Hedgehog signaling pathway. In recent years, tumors with GLI1 alterations have been reported across a variety of anatomic sites and a broad age range. Although these tumors can exhibit a wide morphologic spectrum and a variable immunophenotype, they frequently present with monomorphic ovoid cells arranged in distinctive nests with a rich, arborizing vascular network.

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The goal of surgical treatment for oropharynx squamous cell carcinoma (SCCa) is resection to negative margins. Current methods of orienting resection specimens often do not give a comprehensive view, especially in oropharynx SCCa where specimens can lack anatomic landmarks. We created standardized two-dimensional maps of oropharynx anatomy drawn to scale to improve communication between surgeons and pathologists.

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An immunocompetent 33-year-old woman presented with a pathologic femur fracture after one month of progressively worsening right thigh pain. Open biopsy demonstrated acute suppurative osteomyelitis despite the lack of clinical risk factors. The polymicrobial infection was successfully treated with three operative procedures and culture-specific antibiotic agents.

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DNA damage-inducible transcript 3 () gene, mapped to the human chromosome 12q13.3, encodes a protein that belongs to the CCAAT/enhancer-binding protein family of transcription factors. DDIT3 is involved in the proliferative control that responds to endoplasmic reticulum stress in normal conditions, dimerising other transcription factors with basic leucine zipper (bZIP) structural motifs.

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Article Synopsis
  • - Recently identified mesenchymal tumors with GLI1 fusions or amplifications have been recognized as a unique group, needing clearer classification and criteria.
  • - A study of 16 adult cases revealed various primary sites, mostly in soft tissue, and characterized histologically by uniform cell patterns with distinct features, including lymphovascular invasion in some instances.
  • - These tumors exhibit specific genetic alterations linked to GLI1, and findings suggest a potentially aggressive nature, with half of those monitored showing distant metastases, highlighting the need for further investigation and understanding of their behavior.
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BACKGROUND Early therapies for metastatic melanoma improved patient quality of life; however, median survival remained unaffected. Studies are showing that surgical excision with the combination of immune checkpoint inhibitor (ICI) therapy has better outcomes than systemic therapy alone. This single-center case series describes 7 patients with oligometastatic melanoma treated by metastasectomy in combination with ICI and BRAF inhibitors.

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Introduction: The suggested atypia of undetermined significance (AUS) rate for thyroid fine-needle aspiration biopsies is 10% or less. Prompted by a high institutional AUS rate, we examined using molecular testing results (MTR) as a potential quality metric tool to reduce the AUS rate. We correlated MTR with AUS cytologic findings, surgical pathology follow-up, and individual pathologist AUS rates.

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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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Thoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a rare and highly aggressive malignant neoplasm characterized by high-grade undifferentiated morphologic features and recurrent inactivating mutations of . These tumors consistently exhibit loss of SMARCA4 (BRG1) while displaying variable expression of other nonspecific markers. Recently, we encountered a SMARCA4-UT demonstrating immunoreactivity for GATA3, and we sought to characterize this phenomenon in a larger series.

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Neuroendocrine tumor metastases to the pancreas are rare, and they share substantial overlap with the significantly more common primary pancreatic neuroendocrine neoplasms, representing a potential diagnostic pitfall. Elucidating whether a neuroendocrine tumor within the pancreas is a primary neoplasm versus a metastasis has significant prognostic and treatment implications. Correlation with clinical history and imaging as well as incorporating an appropriate immunohistochemical panel are essential to establish the correct diagnosis.

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