Publications by authors named "Lyn Duncan"

Sinonasal mucosal melanoma (SNMM) is a rare aggressive tumor often diagnosed at advanced stage. SNMM is associated with a greater than 50% rate of recurrence and a disease-specific 5 year survival rate of less than 25%. Sinonasal anatomy may contribute to difficulty in early detection; SNMM is usually asymptomatic until bulky and polypoidal.

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The new revised MPATH-Dx (version 2.0) reporting schema for melanocytic lesions is presented. Principal changes include the simplification of the previous five-class version 1.

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Article Synopsis
  • Cutaneous BAP1-inactivated melanocytomas (BIM) are skin tumors with specific histopathological features linked to BAP1 gene loss, mainly identified in adults but less understood in children.
  • BIM tumors typically show similarities with Spitz nevi but differ in that most contain both BAP1 and BRAF mutations, which are not common in Spitz nevi.
  • The study found that pediatric melanocytic tumors exhibited neither the BAP1 loss nor BRAF positivity seen in adult BIM, indicating that these mutations occur infrequently in benign pediatric cases.
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Next-generation sequencing (NGS) is increasingly being utilized as an ancillary tool for diagnostically challenging melanocytic neoplasms. It is incumbent upon the pathology community to perform studies assessing the benefits and limitations of these tools in specific diagnostic scenarios. One of the most challenging diagnostic scenarios faced by skin pathologists involves accurate diagnosis of desmoplastic melanocytic neoplasms (DMNs).

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Article Synopsis
  • Drivers of Spitz neoplasms are linked to mutations in HRAS and genomic fusions, while some BRAF-mutated melanocytic neoplasms can resemble Spitz tumors, leading to the classification known as BRAF mutated and morphologically spitzoid (BAMS).
  • A study involving 17 pathologists assessed 54 cases, including 40 BAMS and 14 true Spitz tumors, without access to genomic data, and found a split in diagnostic preferences with about 38% identifying BAMS and 32% identifying ST among BAMS cases.
  • The study highlighted significant difficulty in distinguishing BAMS from true Spitz tumors, with poor agreement among experts on precise diagnosis (kappa = 0.16), although there was
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Background: Intravascular lymphoma is an uncommon cause of ischemic strokes. Because of its rarity and atypical pattern, most diagnoses are made post-mortem.

Case Study: We present a case of a 68-year-old male with multiple cardiovascular risk factors and recent SARS-CoV-2 infection who presented with recurrent strokes.

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Desmoplastic melanoma is a subtype of melanoma characterised by amelanotic fusiform melanocytes dispersed in a collagenous stroma. Cell-poor and fibrous stroma-rich 'pure' variants have been distinguished from 'mixed' variants with areas of higher cell density and/or less desmoplastic stroma. This distinction is relevant because patients whose tumours display a pure phenotype have a lower risk for regional lymph node metastasis and distant recurrence.

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Importance: A standardized pathology classification system for melanocytic lesions is needed to aid both pathologists and clinicians in cataloging currently existing diverse terminologies and in the diagnosis and treatment of patients. The Melanocytic Pathology Assessment Tool and Hierarchy for Diagnosis (MPATH-Dx) has been developed for this purpose.

Objective: To revise the MPATH-Dx version 1.

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Though uncommon in melanoma, gene fusions may have therapeutic implications. Next generation sequencing-based clinical assays, designed to detect relevant gene fusions, mutations, and copy number changes, were performed on 750 melanomas (375 primary and 375 metastases) at our institution from 2014-2021. These included 599 (80%) cutaneous, 38 (5%) acral, 11 (1.

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Eosinophilic granulomatosis with polyangiitis (EGPA) is rare vasculitis syndrome that involves the skin and other organ systems manifesting as asthma, eosinophilia, and pulmonary infiltrates. The understanding of EGPA, previously known as Churg-Strauss Syndrome, has continued to evolve from its earliest documentation in the literature in 1951. Herein, we review key historical advances in the diagnosis, classification, and nomenclature of EGPA that have shaped our understanding of this protean disorder over time.

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Primary sinonasal mucosal melanoma (SNMM) is an aggressive tumor with high metastatic potential and poor outcomes. Presenting symptoms are nonspecific, and the nasal cavity is the most common site of origin followed by the maxillary and ethmoid sinuses. Histopathologically, SNMMs are pleomorphic and predominantly composed of epithelioid cell type.

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Immune checkpoint blockade (CPB) improves melanoma outcomes, but many patients still do not respond. Tumor mutational burden (TMB) and tumor-infiltrating T cells are associated with response, and integrative models improve survival prediction. However, integrating immune/tumor-intrinsic features using data from a single assay (DNA/RNA) remains underexplored.

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Atypical Spitzoid melanocytic tumors are diagnostically challenging. Many studies have suggested various genomic markers to improve classification and prognostication. We aimed to assess whether next-generation sequencing studies using the Tempus xO assay assessing mutations in 1711 cancer-related genes and performing whole transcriptome mRNA sequencing for structural alterations could improve diagnostic agreement and accuracy in assessing neoplasms with Spitzoid histologic features.

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Background: Appropriate use criteria (AUC) provide patient-centered physician guidance in test selection. An initial set of AUC was reported by the American Society of Dermatopathology (ASDP) in 2018. AUC reflect evidence collected at single timepoints and may be affected by evolving evidence and experience.

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Article Synopsis
  • Primary cytotoxic T cell lymphomas (CTCLs) are rare, aggressive skin-targeting lymphomas with a poor prognosis, including different subsets like primary cutaneous δT-cell lymphoma and PCAETCL.
  • A study by Lee et al found that all three CTCL subsets exhibit JAK-STAT pathway activation.
  • PCAETCL is distinct because it has gene fusions that could make it more responsive to JAK inhibitors for treatment.
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Certain species are emerging opportunistic pathogens. While these can be common causes of airborne contamination of clinical cultures, an increasing number of reports describe clinically significant disease in the immunocompromised population, particularly in patients with hematologic malignancy. The typical site of infection is respiratory, but disseminated infection is also reported with some frequency.

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Background: Primary cutaneous gamma/delta (γδ) T-cell lymphoma (PCGDTCL) is a rare, aggressive peripheral T-cell lymphoma. There is evidence that patients with epidermotropic PCGDTCL may have an improved prognosis compared with those with only dermal and/or subcutaneous involvement.

Methods: Systematic review of the literature and application of inclusion criteria yielded 48 manuscripts detailing the cases of 104 patients.

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Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare, but severe systemic vasculitis that can affect skin and other organ systems. Diagnostic criteria have evolved, and many attempts have been made to classify the vasculitides based on clinical and/or histopathologic features, with an aim to develop standardized criteria. According to the EGPA Consensus Task Force recommendations, EGPA is a syndrome of asthma, eosinophilia, pulmonary infiltrates, and extrapulmonary vasculitis (such as cutaneous involvement with purpura).

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In 2019, the 2 Current Procedural Terminology (CPT) codes for skin biopsies were replaced with 6 new CPT codes to allow for technique specification and differential reimbursement. We sought to evaluate whether the concurrent decrease in reimbursement for shave biopsies and increase in reimbursement for punch biopsies led to utilization changes. We examined shave and punch biopsies submitted for pathologic examination at 3 academic centers in May 2018 and May 2019.

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Melanosis, clinically presenting as a benign macular hyperpigmentation, consists of increased pigmentation (melanotic or melanocytic) either in the mucosal epithelial cells or as subepithelial pigment-laden macrophages. On the other hand, primary sinonasal mucosal melanoma (SNMM) is a rare disease with poor prognosis and high rates of local recurrence and metastasis. We report follow-up on a previously presented case of a 53-year-old man with recurrent clinical melanosis that progressed from histopathological melanocytic hyperplasia to melanoma in situ over a period of 4.

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