Publications by authors named "Roberto A Novoa"

Advanced mycosis fungoides (MF) and Sézary syndrome (SS) have a poor prognosis with overall survival <5 years. Studies have found the current clinical staging (IA-IVB) inadequate for risk stratification. Developing a prognostic index in MF/SS will identify patients with poor outcomes and may allow better management decisions and improved survival.

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Gastrointestinal stromal tumors (GISTs) are rare gastrointestinal mesenchymal neoplasms. While the liver and peritoneum are the most common metastatic sites, skin involvement is rare. Nevertheless, recognizing skin metastases is crucial as it guides targeted treatment and indicates the possibility of widespread disease.

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Biopsy-based histology has been the foundation of disease diagnosis and management for over a century. A long-sought goal in dermatology is the development of an imaging modality with sufficient resolution and compositional detail to noninvasively interrogate skin histology in vivo. Here, we describe a system that achieves this goal using cross-sectionally scanned, multimodal microscopy (cross-modal).

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Article Synopsis
  • Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, aggressive blood cancer that shares similarities with acute myeloid leukemia, making it challenging to diagnose.
  • A study re-evaluating the expression of myeloid cell nuclear differentiation antigen (MNDA) in BPDCN found considerable variability in MNDA expression across different tissue samples.
  • The results indicate that MNDA expression is influenced by the anatomical site and may be transient, suggesting that it shouldn't be solely relied upon to differentiate BPDCN from other conditions in tests.
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Article Synopsis
  • Sebaceous carcinoma is a type of skin cancer that's not very common, but it still has about 1,000 cases a year in the U.S., and scientists are trying to find better ways to tell it apart from non-cancerous skin growths.* -
  • Researchers studied the DNA and RNA of skin tumors from different hospitals to understand what makes these tumors different and how they develop.* -
  • They found specific changes in the tumors that could help doctors diagnose sebaceous carcinoma better, and they believe that new treatments, like using immunotherapy and targeting cholesterol production, might work well.*
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Rash is one of the commonly observed adverse events with brentuximab vedotin (BV), a CD30-targeted antibody-drug conjugate used to treat cutaneous T-cell lymphoma (CTCL). However, clinical and histopathologic characterization of BV-associated rash (BVAR) is limited. Distinguishing BVAR from a patient's underlying CTCL can be challenging and can lead to treatment interruptions or even premature drug discontinuation.

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Cutaneous larva migrans (CLM) is a dermo-epidermal parasitic infection with a disproportionate incidence in developing countries, particularly in, and near tropical areas. It is characterized by erythematous, twisting, and linear plaques that can migrate to adjacent skin. Herein, we present an otherwise healthy 45-year-old woman who acquired a pruritic, erythematous, and serpiginous rash localized to her right medial ankle during a trip to New England.

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Recent advances in artificial intelligence research have led to an increase in the development of algorithms for detecting malignancies from clinical and dermoscopic images of skin diseases. These methods are dependent on the collection of training and testing data. There are important considerations when acquiring skin images and data for translational artificial intelligence research.

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An estimated 3 billion people lack access to dermatological care globally. Artificial intelligence (AI) may aid in triaging skin diseases and identifying malignancies. However, most AI models have not been assessed on images of diverse skin tones or uncommon diseases.

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ALK rearrangements define a histopathologically distinctive yet diverse subset of Spitz tumors characterized by fusiform to epithelioid melanocytes with frequent fascicular growth and ALK overexpression. Molecularly, these tumors are characterized by fusions between ALK and a variety of gene partners, most commonly TPM3 and DCTN1. We describe an unusual case of a Spitz nevus occurring in a 13-year-old female that manifested ALK immunopositivity with cell membrane localization.

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Artificial intelligence (AI), including deep learning methods that leverage neural network-based algorithms, hold significant promise for dermatopathology and other areas of diagnostic pathology in research and clinical practice. There has been significant progress over past several years in applying AI to analyzing digital histopathology images for diagnosis. While much work in AI analysis of histopathology data remains investigational, recent regulatory agency approval in Europe and United States of AI-assisted tools for clinical use in histopathologic diagnosis of prostate and breast cancer herald broader movement of AI into the clinical diagnostic realm of anatomic pathology, including dermatopathology.

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Background: Pityriasis lichenoides (PL) is a papulosquamous disease that affects both adults and children. Previous studies have shown a subset of this entity to have clonal T-cell populations via PCR-based assays. In this study, we sought to implement next-generation sequencing (NGS) as a more sensitive and specific test to examine for T-cell clonality within the pediatric population.

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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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Atypical fibroxanthoma (AFX) is a neoplasm that most commonly occurs on sun-damaged skin of the head and neck in elderly patients and that usually exhibits indolent clinical behavior with complete excision. The granular cell variant of AFX demonstrates overlapping histopathologic features with dermal non-neural granular cell tumor (NNGCT), which typically arises on the extremities of young to middle aged adults with rare reports of regional metastasis. A subset of NNGCT harbors ALK rearrangements and expresses ALK by immunohistochemistry.

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Telehealth is an increasingly critical component of the health care ecosystem, especially due to the COVID-19 pandemic. Rapid adoption of telehealth has exposed limitations in the existing infrastructure. In this paper, we study and highlight photo quality as a major challenge in the telehealth workflow.

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Chagas disease, a multisystem infection caused by the protozoan Trypanosoma cruzi, is primarily found in Latin America. In recent years, prevalence has increased in the United States, where reactivation is the most common clinical scenario. Here, we describe cutaneous reactivation of T.

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