A5017742337- Cutaneous Melanoma Detection and Management
- Cancer and Skin Lesions
- Autoimmune Bullous Skin Diseases
- Cancer Diagnosis and Treatment
- Nonmelanoma Skin Cancer Studies
- Melanoma and MAPK Pathways
- Infectious Diseases and Mycology
- Autoimmune and Inflammatory Disorders
- Antifungal resistance and susceptibility
- Fungal Infections and Studies
- Immunotherapy and Immune Responses
- Cutaneous lymphoproliferative disorders research
- Skin Diseases and Diabetes
- Mycobacterium research and diagnosis
- Parvovirus B19 Infection Studies
- Genital Health and Disease
- Plant Pathogens and Fungal Diseases
- Polyomavirus and related diseases
- Viral Infections and Vectors
- Soft tissue tumor case studies
- Virus-based gene therapy research
- Clinical Laboratory Practices and Quality Control
- Eosinophilic Disorders and Syndromes
- Antimicrobial Resistance in Staphylococcus
- Chemotherapy-related skin toxicity
Harvard University
2016-2025
Brigham and Women's Hospital
2016-2025
Massachusetts General Hospital
2010-2024
University of California, Davis
2024
Dana-Farber Cancer Institute
2018-2022
University of Rwanda
2021
University of Liège
2017
Gynecologic Oncology Group
2017
Bangkok Hospital
2017
In-Q-Tel
2015-2016
A rare 5% of cutaneous squamous cell carcinomas (cSCC) metastasize, lack FDA-approved therapies, and carry a poor prognosis. Our aim was to identify recurrent genomic alterations in this little-studied population metastatic cSCCs.We performed targeted sequencing 504 cancer-associated genes on lymph node metastases 29 patients with cSCC identified mutations somatic copy-number associated cSCC. We determined significantly mutated, deleted, amplified clinical variables.The genome is...
A human polyomavirus was recently discovered in Merkel cell carcinoma (MCC) specimens. The (MCPyV) genome undergoes clonal integration into the host chromosomes of MCC tumors and expresses small T antigen truncated large antigen. Previous studies have consistently reported that MCPyV can be detected approximately 80% all tumors. We sought to increase sensitivity detection by developing antibodies capable detecting immunohistochemistry. In addition, we expanded repertoire quantitative PCR...
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a newly described, adult-onset, autoinflammatory disorder caused by mutations in the X-linked UBA1 gene. This characterized fevers, cytopenias, peripherally circulating myeloid and erythroid precursors with cytoplasmic vacuoles dysplastic changes, pulmonary inflammation, chondritis, vasculitis, joint pain swelling.1,2 Nearly all patients VEXAS present cutaneous manifestations of disease, most commonly robust...
Basal cell carcinomas (BCC) are driven primarily by cumulative ultraviolet (UV) radiation exposure resulting in activation of the Hedgehog (Hh) signaling pathway, often as a result UV-mediated Patched-1 (PTCH1) gene inactivation. Accordingly, BCCs most commonly arise at sun-exposed sites such head and neck. Very rarely, can sun-protected genital skin perianal area. This pose significant diagnostic challenges not only due to rarity BCC these but also potential morphologic overlap with other...
Recent developments in genomic sequencing have advanced our understanding of the mutations underlying human malignancy. Melanoma is a prototype an aggressive, genetically heterogeneous cancer notorious for its biologic plasticity and predilection towards developing resistance to targeted therapies. Evidence rapidly accumulating that dysregulated epigenetic mechanisms (DNA methylation/demethylation, histone modification, non-coding RNAs) may play central role pathogenesis melanoma. Therefore,...
Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion (CMTCT) is a recently described dermally based neoplasm differentiation. It can easily be confused clear cell sarcoma and metastatic melanoma. Our understanding of this lesion, including its potential for aggressive disease, has been limited by the small number previously reported cases (13) clinical follow-up data. Here, we report series 41 CMTCT confirmed molecular studies. We find that lesion shows highly uniform reproducible...
Myopericytoma is a rare, recently described tumor demonstrating hemangiopericytoma-like vascular pattern. We present two cases of myopericytoma associated with trauma: 64-year-old man who developed several nodules on his nose four months after sustaining multiple abrasions to forehead and nose, 72-year-old woman solitary growth in the alveolar ridge unknown duration. Biopsy specimens lesions both demonstrated striking concentric perivascular proliferation bland spindle-shaped pericytic cells...
Tumor necrosis factor (TNF)-α inhibitors (anti-TNF-α biologic drugs), currently used to treat different autoimmune conditions, may be associated with cutaneous drug reactions. New onset or worsening of psoriasis and psoriasis-like reactions have been reported in these patients. However, not much is known about the histopathologic patterns such skin lesions. The aim this study was evaluate pathologic spectrum clinically papulosquamous pustular "psoriasiform" lesions setting. Sixteen biopsies...
SOX2 is an embryonic neural crest stem-cell transcription factor recently shown to be expressed in human melanoma and correlate with experimental tumor growth. binds enhancer region of the gene that encodes for nestin, also a progenitor cell biomarker. To define further potential relationship between we examined co-expression patterns 135 melanomas 37 melanocytic nevi. Immunohistochemical staining 27 tissue sections showed association positivity, spindle shape peripheral nestin distribution...
Still disease is a rare disorder characterized by seronegative arthralgias/arthritis, spiking fever, and either an evanescent salmon-colored rash or persistent papules plaques.We describe the clinical biopsy findings in 10 patients with of disease.Fourteen specimens were studied from seven women three men mean age 44.4 years. The skin lesions typically erythematous macules, papules, plaques median duration 5 weeks. All had systemic symptoms, including fever arthralgias. infiltrate was...
Hemolyzed specimens are rejected for coagulation testing based on concerns of artifactual interference. Prothrombin time (PT), activated partial thromboplastin (aPTT), and selected factor assay test results consecutive pairs hemolyzed subsequently re-collected (mean, 72 minutes later) nonhemolyzed patient were compared. Specimens from healthy human subjects subjected to mechanically induced hemolysis, PT aPTT compared with concurrently drawn control samples. In 50 paired specimens, there...
Abstract Objectives Diagnosis of metastatic basal cell carcinoma (BCC) remains challenging, in part due to its rarity. With the advent molecularly targeted therapies, recognition this entity is more important than ever. Methods We identified 11 cases BCC over a 13-year period. analyzed these tumors conjunction with their respective primary by histomorphologic, immunohistochemical, and molecular genetic analyses. Results three morphologic patterns metastasis BCC. The most common (seven cases)...
ABSTRACT Ixodes scapularis is a vector of several human pathogens in the United States, including Borrelia burgdorferi, cause Lyme disease, and Powassan virus (POWV), an emerging severe encephalitis. Skin biopsies from tick bite sites are frequently collected tested for presence spirochetes ( spp.), which remain elusive. POWV testing not performed despite increasing incidence To determine utility staining skin tick-borne pathogens, formalin-fixed paraffin-embedded specimens 2010 to 2023 were...
Whipple's disease is rarely diagnosed in Latin America. We describe 2 patients with Tropheryma whipplei infection Mexico during 2019-2021. Diagnoses were confirmed by histopathology, electron microscopy, immunohistochemistry, and DNA amplification sequencing analysis of the 16S rRNA gene. Clinicians should be aware T. associated syndromes.