Scholars@Duke
Rami Nayef Al-Rohil

Rami Nayef Al-Rohil

Adjunct Associate Professor in the Department of Pathology
Pathology
rami.alrohil@duke.edu
Duke Box 3712, Yellow Zone Room 3108, Durham, NC 27710
Duke Box 3712, 3108 Yellow Zone, Duke South, Durham, NC 27710

Scholarly Works - Journal articles

Breslow Thickness and Microsatellite Detection in Primary Cutaneous Melanoma: Implications for Oncologic Surgeons and Patients.

Journal article Am Surg · September 2026 BackgroundMicrosatellites are an adverse prognostic feature in melanoma that upstages node-negative disease to N1c in the AJCC 8th edition staging system. While Breslow thickness and microsatellites are established prognostic markers, their relationship in ... Full text Link to item Cite

The melanocytic transcriptomic state is independently associated with poor overall survival in patients with metastatic melanoma.

Journal article Sci Adv · July 24, 2026 Melanomas display distinct transcriptomic states, but it remains unclear how they associate with clinical outcomes. We performed digital spatial RNA profiling (DSP-RNA) of metastatic tumors from patients to investigate how transcriptomic states correlate w ... Full text Link to item Cite

A longitudinal, multi-omic atlas reveals the emergence of a spatially organized immunosuppressive ecosystem in resistant melanoma.

Journal article Cell Rep Med · April 21, 2026 Despite advances in immune checkpoint blockade, resistance in metastatic melanoma remains a major challenge. To decode resistance mechanisms, we generate a comprehensive longitudinal, multi-omic, and spatial atlas of 45 tumor samples across 10 patients. An ... Full text Link to item Cite

Immunohistochemical and Molecular Testing for the Diagnosis of Primary Cutaneous Ewing Sarcoma: A Comprehensive Review.

Journal article J Cutan Pathol · March 2026 Primary cutaneous Ewing Sarcoma (PCES) is a rare superficial subtype of Ewing sarcoma that typically presents above the fascia and is associated with a relatively favorable prognosis compared to its deep soft tissue and osseous counterparts. This review, c ... Full text Link to item Cite

Melanocytoma With Morphologic Features Reminiscent of BAP-1-Inactivated Melanocytoma but With a Different Molecular Profile.

Journal article Am J Dermatopathol · March 1, 2026 BRCA1-associated protein (BAP1)-inactivated melanocytoma (BIM) exhibits a unique, biphasic cellular composition. The tumor comprises 2 distinct melanocytic populations: a cytologically bland nevoid of aggregated nests and a more distinctive group of larger ... Full text Link to item Cite

A Rare Case of Superficial CD34+ Fibroblastic Tumor: A Case Report

Journal article Skin Journal of Cutaneous Medicine · March 1, 2026 Introduction Pexidartinib, an oral tyrosine kinase inhibitor targeting the CSF-1R pathway, is FDA-approved for treatment of tenosynovial giant cell tumor (TGCT). We describe a patient with recurrent pigmented villonodular synovitis (PVNS) who developed cut ... Full text Cite

Use of UV mutational signatures to distinguish between cutaneous and pulmonary primary squamous cell carcinoma.

Journal article J Cutan Pathol · January 2026 BACKGROUND: Squamous cell carcinoma (SCC) of presumed lung origin (PLO) is now the second most frequent histologic subtype of non-small cell carcinoma after adenocarcinoma. The use of clinic-genomic correlation provided by comprehensive genomic profiling ( ... Full text Link to item Cite

A Comparative Study Between Copy Number Alterations and PRAME Immunohistochemical Pilot Study in Challenging Melanocytic Lesions.

Journal article Cancers (Basel) · April 4, 2025 INTRODUCTION: Diagnostic uncertainty for ambiguous lesions that fall on the spectrum between nevi and melanoma remains a significant challenge and can have consequences for patient management. METHODS: This study aimed to compare the diagnostic utility of ... Full text Link to item Cite

Ancillary Tools for the Diagnosis of CIC -Rearranged Sarcoma: A Comprehensive Review.

Journal article J Cutan Pathol · April 2025 CIC-rearranged sarcoma is a rare and aggressive undifferentiated round cell sarcoma that presents significant diagnostic challenges due to its histologic overlap with other round cell sarcomas. This review, conducted on behalf of the American Society of De ... Full text Link to item Cite

Soft-Tissue Chondroma of the Eyelid.

Journal article Ophthalmic Plast Reconstr Surg · March 2025 A woman in her early 20s underwent excision of a 6-mm diameter, tender, mobile mass in the temporal left upper eyelid associated with eyelid swelling and blurred vision. Surgery disclosed a large tarsal lesion that appeared to be a cyst but was found to be ... Full text Link to item Cite

Final clinical diagnosis in cases of histopathologic psoriasiform dermatitis: retrospective cross-sectional analysis of a Southeastern United States population, 2004-2017.

Journal article Arch Dermatol Res · January 10, 2025 BACKGROUND: Psoriasiform dermatitis can be defined both clinically and histologically, but is not a traditionally recognized clinical or histologic diagnosis. OBJECTIVE: Analyze the final clinical diagnosis, demographics and clinical characteristics in pat ... Full text Link to item Cite

MALDI imaging mass spectrometry differentiates basal cell carcinoma from trichoblastoma and trichoepithelioma: A proof of principle study.

Journal article PLoS One · 2025 BACKGROUND: Basal cell carcinoma (BCC) comprises a large portion of dermatopathology specimens; however, benign mimics such as trichoblastoma/trichoepithelioma (TB/TE) place accurate diagnosis at risk and consequently lead to inappropriate clinical managem ... Full text Link to item Cite

Case of a CIC::DUX4 fusion gene in a vascular neoplasm extends the spectrum of CIC-rearranged sarcomas.

Journal article J Cutan Pathol · November 2024 CIC-rearranged sarcomas comprise a group of exceptionally aggressive round-cell sarcomas. These tumors most commonly demonstrate CIC::DUX4 fusion and show similar histopathology to Ewing sarcomas, though lesions mimicking vascular neoplasms have recently b ... Full text Link to item Cite

Stage III Melanoma: A Proposed Staging Model That Outperforms the American Joint Committee on Cancer Eighth Edition Staging System.

Journal article Am J Surg Pathol · October 1, 2024 National Comprehensive Cancer Network guidelines state that clinical stage III melanoma patients may undergo ultrasound surveillance of the nodal basin in lieu of complete lymph node dissection (CLND). This has led to an inability to accurately classify pa ... Full text Link to item Cite

Clinicopathologic correlation of dermatologic diseases in patients with darker pigmentation.

Journal article Am J Clin Pathol · August 1, 2024 OBJECTIVES: Cutaneous diseases that disproportionately affect patients with darker pigmentation and their histologic features are historically understudied and undertreated. This review article aims to highlight the key clinical features, histopathology, a ... Full text Link to item Cite

Genomic Alterations in Melanocytic Tumors: A Review of Spitz Tumors, Blue Nevi, Deep Penetrating Melanocytomas and Pigmented Epithelioid Melanocytomas

Journal article Applied Sciences Switzerland · March 1, 2024 The arena of melanocytic histopathology has experienced tremendous growth in the last decade. The advancement is attributed to incorporating various molecular tests in benign, intermediate, and malignant melanocytic tumors. Most molecular testing has been ... Full text Cite

Pediatric Atypical Melanocytic Proliferations: Single-Site Retrospective Cohort Assessment of Treatment and Long-Term Follow-Up.

Journal article Cancers (Basel) · December 12, 2023 Atypical and malignant cutaneous tumors are understudied in the pediatric population, with limited data on long-term follow-up. This study examines pediatric (0-18 years) atypical melanocytic proliferations over a twenty-year period (January 2002-December2 ... Full text Link to item Cite

Giant cell tumor of bone in the pediatric population: a retrospective study highlighting cases of metaphyseal only location and increased local recurrence rates in skeletally immature patients.

Journal article Skeletal Radiol · December 2023 OBJECTIVE: To describe the presentation of giant cell tumors (GCT) of the bone in the pediatric population to (1) improve the differential diagnosis of pediatric bone tumors and (2) identify the origin of GCT. Understanding the origin of bone tumors assist ... Full text Link to item Cite

EWSR1::NR4A3 gene fusion in a cutaneous atypical myoepithelial neoplasm.

Journal article J Cutan Pathol · July 2023 Myoepithelial neoplasms of the skin and soft tissue are rare and share histopathologic features with their salivary gland counterpart. We present a case of an atypical myoepithelial neoplasm from the back of a 72-year-old female. This lesion harbored an EW ... Full text Link to item Cite

Application of immunohistochemical studies in diagnosing emerging superficial mesenchymal neoplasms.

Journal article Semin Diagn Pathol · July 2023 Molecular diagnostics, with the subsequent development of novel immunohistochemical markers, continues to advance and expand the field of soft tissue pathology. As such, the ever-evolving molecular diagnostic landscape will continue to shape and refine our ... Full text Link to item Cite

Cutaneous Vasculopathy and Recalcitrant Lower-Extremity Ulcerations

Journal article Annals of Internal Medicine Clinical Cases · April 1, 2023 Lower-extremity ulcerations are a frequent cause of hospitalization, and those that persist despite appropriate treatment warrant careful scrutiny. We present a case of chronic, progressive leg ulcerations in a young woman accompanied by oral and genital u ... Full text Cite

Tumor-intrinsic NLRP3-HSP70-TLR4 axis drives premetastatic niche development and hyperprogression during anti-PD-1 immunotherapy.

Journal article Sci Transl Med · November 23, 2022 The tumor-intrinsic NOD-, LRR- and pyrin domain-containing protein-3 (NLRP3) inflammasome-heat shock protein 70 (HSP70) signaling axis is triggered by CD8+ T cell cytotoxicity and contributes to the development of adaptive resistance to anti-programmed cel ... Full text Link to item Cite

The Role of T Helper Type 2 (Th2) Cytokines in the Pathogenesis of Eosinophilic Granulomatosis with Polyangiitis (eGPA): an Illustrative Case and Discussion.

Journal article Curr Allergy Asthma Rep · November 2022 PURPOSEOF REVIEW: The pathogenesis of eosinophilic granulomatosis with polyangiitis (eGPA) is driven largely by CD4 + type 2 helper T cells (Th2), B cells, and eosinophils. Interleukin (IL)-4 and IL-13 are critical cytokines in Th2 cell-mediated inflammati ... Full text Link to item Cite

Cutaneous inflammatory myofibroblastic tumor with CARS-ALK fusion: Case report and literature review.

Journal article J Cutan Pathol · September 2022 Cutaneous inflammatory myofibroblastic tumors (IMT) constitute a rare entity, generating a diagnostic pitfall when diagnosing spindle cell proliferation within the dermis. Raising awareness of this tumor among dermatopathologists remains vital in different ... Full text Link to item Cite

Multimodality analysis confers a prognostic benefit of a T-cell infiltrated tumor microenvironment and peripheral immune status in patients with melanoma.

Journal article J Immunother Cancer · September 2022 BACKGROUND: We previously reported results from a phase 1 study testing intratumoral recombinant poliovirus, lerapolturev, in 12 melanoma patients. All 12 patients received anti-PD-1 systemic therapy before lerapolturev, and 11 of these 12 patients also re ... Full text Link to item Cite

Clinical and direct immunofluorescence characteristics of cutaneous toxicity associated with enfortumab vedotin.

Journal article Br J Dermatol · July 2022 Enfortumab vedotin (EV), a novel antibody-drug conjugate approved for metastatic urothelial carcinoma, causes a variety of cutaneous adverse reactions. We present two cases of bullous eruptions following treatment with EV, both demonstrating IgG deposition ... Full text Link to item Cite

An Atypical Myelomonocytic Cell Infiltrate: Use of Next-Generation Sequencing to Diagnose Indeterminate Cell Histiocytosis.

Journal article Am J Dermatopathol · July 1, 2022 Indeterminant cell histiocytosis (ICH) is a rare lymphoproliferative disorder that demonstrates features of Langerhans and non-Langerhans cell histiocytoses and diagnosis can be challenging. We present a case of a 62 year old woman with a generalized erupt ... Full text Link to item Cite

Identification of a Germline Pyrin Variant in a Metastatic Melanoma Patient With Multiple Spontaneous Regressions and Immune-related Adverse Events.

Journal article J Immunother · July 2022 The mechanisms underlying tumor immunosurveillance and their association with the immune-related adverse events (irAEs) associated with checkpoint inhibitor immunotherapies remain poorly understood. We describe a metastatic melanoma patient exhibiting mult ... Full text Open Access Link to item Cite

A Case of Congenital Syphilis-Focus on Histopathology and Literature Review.

Journal article Am J Dermatopathol · May 1, 2022 Although a rare disease, the incidence of congenital syphilis is on the rise in the US. We report a case of early congenital syphilis in a 1-day-old premature boy with positive Rapid plasma reagin titer, respiratory insufficiency, disseminated intravascula ... Full text Link to item Cite

Spatial biology analysis reveals B cell follicles in secondary lymphoid structures may regulate anti-tumor responses at initial melanoma diagnosis.

Journal article Front Immunol · 2022 INTRODUCTION: B cells are key regulators of immune responses in melanoma. We aimed to explore differences in the histologic location and activation status of B cell follicles in sentinel lymph nodes (SLN) of melanoma patients. METHODS: Flow cytometry was p ... Full text Link to item Cite

Diagnosis of melanoma by imaging mass spectrometry: Development and validation of a melanoma prediction model.

Journal article J Cutan Pathol · December 2021 BACKGROUND: The definitive diagnosis of melanocytic neoplasia using solely histopathologic evaluation can be challenging. Novel techniques that objectively confirm diagnoses are needed. This study details the development and validation of a melanoma predic ... Full text Link to item Cite

Discordance in Diagnosis of Melanocytic Lesions and Its Impact on Clinical Management.

Journal article Arch Pathol Lab Med · December 1, 2021 CONTEXT.—: Accurate diagnosis of melanocytic lesions is fundamental for appropriate clinical management. OBJECTIVE.—: To evaluate the degree of discordance, if any, between histopathologic diagnoses of melanocytic lesions at referring institutions and at a ... Full text Link to item Cite

Cutaneous Vascular Neoplasms of Uncertain Biological Behavior.

Journal article Biology (Basel) · November 9, 2021 Neoplasms of uncertain biological behavior present physicians with a genuine conundrum in practice. Cutaneous vascular neoplasms within this category are exceedingly rare, possessing significant gaps and uncertainty in many facets of clinical practice. Fir ... Full text Link to item Cite

Lichen striatus post-COVID-19 vaccination.

Journal article JAAD Case Rep · October 2021 Full text Link to item Cite

Characterization of Sentinel Lymph Node Immune Signatures and Implications for Risk Stratification for Adjuvant Therapy in Melanoma.

Journal article Ann Surg Oncol · July 2021 BACKGROUND: Although sentinel lymph node (SLN) biopsy is a standard procedure used to identify patients at risk for melanoma recurrence, it fails to risk-stratify certain patients accurately. Because processes in SLNs regulate anti-tumor immune responses, ... Full text Link to item Cite

Cutaneous involvement by T-cell prolymphocytic leukemia presenting as livedoid vasculopathy.

Journal article J Cutan Pathol · July 2021 T-cell prolymphocytic leukemia (T-PLL) is a rare, aggressive neoplasm derived from post-thymic T-cells. Patients are typically middle aged with a slight male predominance who present with a high white blood cell count, hepatosplenomegaly, lymphadenopathy, ... Full text Link to item Cite

Dissecting the immune landscape of tumor draining lymph nodes in melanoma with high-plex spatially resolved protein detection.

Journal article Cancer Immunol Immunother · February 2021 BACKGROUND: In melanoma patients, microscopic tumor in the sentinel lymph-node biopsy (SLN) increases the risk of distant metastases, but the transition from tumor in the SLN to metastatic disease remains poorly understood. METHODS: Fluorescent staining fo ... Full text Link to item Cite

The Utility of Perilipin in Liposarcomas: PLIN1 Differentiates Round Cell Liposarcoma From Other Round Cell Sarcomas.

Journal article Appl Immunohistochem Mol Morphol · February 1, 2021 Liposarcoma is the most common soft tissue sarcoma in adults; however, accurate diagnosis often depends on the use of ancillary molecular testing which can be time consuming and expensive. Myxoid/round cell liposarcoma may be a diagnostic challenge due to ... Full text Link to item Cite

Epithelioid Hyalinizing Sarcoma With MGA-NUTM1 Fusion.

Journal article Am J Clin Pathol · November 4, 2020 OBJECTIVES: Soft tissue sarcomas are a group of tumors derived from the mesenchymal origin. Historically, they have been classified according to morphologic and immunohistochemical characteristics. The advent of multiplexed next-generation sequencing (NGS) ... Full text Link to item Cite

Metastatic Melanoma Patient-Derived Xenografts Respond to MDM2 Inhibition as a Single Agent or in Combination with BRAF/MEK Inhibition.

Journal article Clin Cancer Res · July 15, 2020 PURPOSE: Over 60% of patients with melanoma respond to immune checkpoint inhibitor (ICI) therapy, but many subsequently progress on these therapies. Second-line targeted therapy is based on BRAF mutation status, but no available agents are available for NR ... Full text Link to item Cite

Cutaneous metastasis of SMARCA4-deficient thoracic sarcoma: A diagnostic dilemma with therapeutic implications.

Journal article J Cutan Pathol · June 2020 SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently recognized entity with undifferentiated rhabdoid morphology and mutations in the switch/sucrose nonfermenting BRG1-associated factors complex. Patients are typically males in their fifth decade ... Full text Link to item Cite

Successful Treatment of Painful Cutaneous Vasculopathy With Rivaroxaban in a Patient With Systemic Lupus Erythematosus.

Journal article J Drugs Dermatol · May 1, 2020 Novel oral anticoagulant (NOAC) medications have revolutionized hematology and cardiology. Recently, NOACs have demonstrated additional promise in dermatology. Specifically, rivaroxaban, a direct factor Xa inhibitor NOAC, has been shown to be successful in ... Link to item Cite

Trichoblastic carcinosarcoma: A case report and literature review.

Journal article J Cutan Pathol · April 2020 Trichoblastic carcinosarcoma is a rare biphasic adnexal neoplasm. This case report chronicals the eighth occurrence of this tumor published in the English literature and provides a review of the prior publications. Clinically, this tumor presents as an iso ... Full text Link to item Cite

The robust and rapid role of molecular testing in precision fungal diagnostics: A case report.

Journal article Med Mycol Case Rep · March 2020 Diagnosis of invasive fungal disease remains an ongoing challenge for clinicians, while continuously evolving treatment regimens increase patient risk for invasive infection. This case highlights how molecular testing led to the diagnosis of co-infection w ... Full text Link to item Cite

MDM2 antagonists overcome intrinsic resistance to CDK4/6 inhibition by inducing p21.

Journal article Sci Transl Med · August 14, 2019 Intrinsic resistance of unknown mechanism impedes the clinical utility of inhibitors of cyclin-dependent kinases 4 and 6 (CDK4/6i) in malignancies other than breast cancer. Here, we used melanoma patient-derived xenografts (PDXs) to study the mechanisms fo ... Full text Link to item Cite

A case report of clonal EBV-like memory CD4+ T cell activation in fatal checkpoint inhibitor-induced encephalitis.

Journal article Nat Med · August 2019 Checkpoint inhibitors produce durable responses in numerous metastatic cancers, but immune-related adverse events (irAEs) complicate and limit their benefit. IrAEs can affect organ systems idiosyncratically; presentations range from mild and self-limited t ... Full text Link to item Cite

Low-grade fibromyxoid sarcoma of acral sites: Case report and literature review.

Journal article J Cutan Pathol · April 2019 Low-grade fibromyxoid sarcoma (LGFMS) is a rare soft tissue sarcoma that usually presents as a deep-seated tumor in young adults; however, they can occur on superficial sites, mostly documented in pediatric age groups. LGFMS presenting on acral sites is no ... Full text Link to item Cite

BCAT1 and miR-2504: novel methylome signature distinguishes spindle/desmoplastic melanoma from superficial malignant peripheral nerve sheath tumor.

Journal article Mod Pathol · March 2019 Superficial/cutaneous malignant peripheral nerve sheath tumor is a rare soft tissue neoplasm that shares morphological, immunohistochemical, and molecular features with spindle/desmoplastic melanoma. We aimed to identify a methylome signature to distinguis ... Full text Link to item Cite

Cutaneous metastases

Journal article Diagnostic Histopathology · March 1, 2019 Cutaneous metastases are not particularly common compared to metastases to other system organs, but they are an important entity to diagnose correctly given their prognostic implications. Clinically cutaneous metastases can mimic more common dermatologic d ... Full text Cite

Clinical characterization of colitis arising from anti-PD-1 based therapy.

Journal article Oncoimmunology · 2019 Colitis is a frequent, clinically-significant immune-related adverse event caused by anti-programmed death-1 (PD-1). The clinical features, timing, and management of colitis with anti-PD-1-based regimens are not well-characterized. Patients with advanced m ... Full text Link to item Cite

Clinical Correlates of Response to Anti-PD-1-based Therapy in Patients With Metastatic Melanoma.

Journal article J Immunother · 2019 Anti-PD-1 agents, alone or in combination with ipilimumab, produce durable responses in some melanoma patients. Tumor features that correlate with response are not well defined. We collected clinical data from metastatic melanoma patients treated at 2 cent ... Full text Link to item Cite

Age Correlates with Response to Anti-PD1, Reflecting Age-Related Differences in Intratumoral Effector and Regulatory T-Cell Populations.

Journal article Clin Cancer Res · November 1, 2018 Purpose: We have shown that the aged microenvironment increases melanoma metastasis, and decreases response to targeted therapy, and here we queried response to anti-PD1.Experimental Design: We analyzed the relationship between age, response to anti-PD1, a ... Full text Open Access Link to item Cite

Cutaneous Angiosarcoma of the Eyelid Mimicking Morbihan Disease.

Journal article Am J Dermatopathol · August 2018 BACKGROUND: Cutaneous angiosarcoma presents clinically in numerous ways, and can be mistaken for a different clinical entity, particularly when arising at unusual anatomic locations such as the eyelid. CASE PRESENTATION: A 57-year-old woman presented with ... Full text Link to item Cite

Intratumoral and peritumoral lymphovascular invasion detected by D2-40 immunohistochemistry correlates with metastasis in primary cutaneous Merkel cell carcinoma.

Journal article Hum Pathol · July 2018 Primary cutaneous Merkel cell carcinoma (MCC) is an aggressive neuroendocrine malignancy in which lymphovascular invasion (LVI) correlates with more aggressive phenotype. The prognostic significance of LVI detected by D2-40 immunohistochemistry (IHC) in MC ... Full text Link to item Cite

Dermal xanthomatous infiltrates after brentuximab vedotin therapy in mycosis fungoides with large-cell transformation: A novel histologic finding.

Journal article J Cutan Pathol · May 27, 2018 Mycosis fungoides (MF) is the most common variant of cutaneous T-cell lymphomas. Large-cell transformation of MF has been associated with disease progression and overall poor outcome. The expression of CD30, which defines anaplastic large cell lymphoma (AL ... Full text Link to item Cite

Post-irradiation morphoea of the breast: a case report and review of the literature.

Journal article Histopathology · January 2018 We describe a 44-year-old female with triple-negative breast cancer who developed skin erythaema, sclerosis and contracture of her entire right breast 15 months after completion of post-lumpectomy chemotherapy and radiotherapy, consistent with post-irradia ... Full text Link to item Cite

Novel enriched pathways in superficial malignant peripheral nerve sheath tumours and spindle/desmoplastic melanomas.

Journal article J Pathol · January 2018 Superficial malignant peripheral nerve sheath tumour (MPNST) is a rare, soft tissue neoplasm that shares morphological features and some molecular events with spindle/desmoplastic melanoma (SDM). Herein, we sought to identify molecular targets for therapy ... Full text Link to item Cite

Pancreatic acinar cell carcinoma: A review on molecular profiling of patient tumors.

Journal article World J Gastroenterol · December 7, 2017 Pancreatic carcinomas with acinar differentiation are rare, accounting for 1%-2% of adult pancreatic tumors; they include pancreatic acinar cell carcinoma (PACC), pancreatoblastoma, and carcinomas of mixed differentiation. Patients with PACC have a prognos ... Full text Link to item Cite

Cutaneous polyarteritis nodosa localized to a region of lymphedema secondary to Streptococcus viridans cellulitis and multiple surgeries.

Journal article J Cutan Pathol · February 2017 Cutaneous polyarteritis nodosa (CPAN) is a chronic, indolent, single organ arteritis that generally presents with lower extremity nodules and/or livedo racemosa, accompanied by malaise and arthralgias. CPAN is often triggered by infection, commonly Group A ... Full text Link to item Cite

Extreme Eyelid Lymphedema Associated With Rosacea (Morbihan Disease): Case Series, Literature Review, and Therapeutic Considerations.

Journal article Ophthalmic Plast Reconstr Surg · 2017 PURPOSE: To describe severe lymphedema of the eyelids, known as Morbihan disease, a previously characterized but infrequently reported and poorly understood entity related to rosacea that features solid mid-facial and eyelid lymphedema. METHODS: Retrospect ... Full text Link to item Cite

Loss of CD30 expression after treatment with brentuximab vedotin in a patient with anaplastic large cell lymphoma: a novel finding.

Journal article J Cutan Pathol · December 2016 Anaplastic large cell lymphoma (ALCL) is an aggressive T-cell lymphoma characterized by strong and uniform expression of CD30. Brentuximab vedotin (BV), an anti-CD30 antibody-drug conjugate has been approved by the U.S. FDA for relapsed/refractory systemic ... Full text Link to item Cite

Cutaneous Metastasis of a Mucoepidermoid Carcinoma of the Pancreas: First Reported Case.

Journal article Am J Dermatopathol · November 2016 BACKGROUND: Mucoepidermoid pancreatic cancer is a rare entity with only 8 cases reported in the literature. On review of the literature, the authors found that cutaneous metastases in pancreatic cancer are rare and have not been associated with the mucoepi ... Full text Link to item Cite

Comparison between melanoma gene expression score and fluorescence in situ hybridization for the classification of melanocytic lesions.

Journal article Mod Pathol · August 2016 Melanoma accounts for most skin cancer-related deaths and has an increasing incidence. Accurate diagnosis and distinction from atypical nevi can be at times difficult using light microscopy alone. Fluorescence in situ hybridization (FISH) and melanoma gene ... Full text Link to item Cite

Proliferation indices correlate with diagnosis and metastasis in diagnostically challenging melanocytic tumors.

Journal article Hum Pathol · July 2016 The diagnosis of melanocytic lesions remains a formidable challenge in dermatopathology. For diagnostically challenging lesions, ancillary tests are available to inform the diagnosis, including immunohistochemistry and molecular testing (particularly fluor ... Full text Link to item Cite

Evaluation of 122 advanced-stage cutaneous squamous cell carcinomas by comprehensive genomic profiling opens the door for new routes to targeted therapies.

Journal article Cancer · January 15, 2016 BACKGROUND: The authors hypothesized that comprehensive genomic profiling of advanced-stage cutaneous squamous cell carcinoma (cSCC) could identify genomic-derived drug targets of therapy for patients with conventional therapy-resistant disease. METHODS: C ... Full text Link to item Cite

Primary intracranial Ewing's sarcoma with unusual features.

Journal article Int J Clin Exp Pathol · 2015 Pediatric primary "small round blue cell" tumors in the CNS represent several entities, some more common than others. Ewing sarcoma/peripheral primitive neuroectodermal tumor (ES/pPNET) is rare and must be distinguished from other tumors such as medullobla ... Link to item Cite

Expression of integrin α3β1 and cyclooxygenase-2 (COX2) are positively correlated in human breast cancer.

Journal article BMC Cancer · June 20, 2014 BACKGROUND: Expression of integrin α3β1 is associated with tumor progression, metastasis, and poor prognosis in several cancers, including breast cancer. Moreover, preclinical studies have revealed important pro-tumorigenic and pro-metastatic functions for ... Full text Link to item Cite

Pigmented eyelid cysts revisited: apocrine retention cyst chromhidrosis.

Journal article Am J Dermatopathol · April 2014 A minority of eyelid hidrocystomas are pigmented containing brown-black contents. Chromhidrosis describes the excretion of colored secretions composed of lipofuscin pigments in apocrine gland-rich anatomic locations. The objective of this study is to evalu ... Full text Link to item Cite

New routes to targeted therapy of intrahepatic cholangiocarcinomas revealed by next-generation sequencing.

Journal article Oncologist · March 2014 BACKGROUND: Intrahepatic cholangiocarcinoma (ICC) is a subtype of primary liver cancer that is rarely curable by surgery and is rapidly increasing in incidence. Relapsed ICC has a poor prognosis, and current systemic nontargeted therapies are commonly extr ... Full text Link to item Cite

Advanced urothelial carcinoma: next-generation sequencing reveals diverse genomic alterations and targets of therapy.

Journal article Mod Pathol · February 2014 Although urothelial carcinoma (UC) of the urinary bladder generally portends a favorable prognosis, metastatic tumors often follow an aggressive clinical course. DNA was extracted from 40 μm of formalin-fixed, paraffin-embedded (FFPE) sections from 35 stag ... Full text Link to item Cite

Comprehensive genomic profiling of relapsed and metastatic adenoid cystic carcinomas by next-generation sequencing reveals potential new routes to targeted therapies.

Journal article Am J Surg Pathol · February 2014 We hypothesized that next-generation sequencing could reveal actionable genomic alterations (GAs) and potentially expand treatment options for patients with advanced adenoid cystic carcinoma (ACC). Genomic profiling using next-generation sequencing was per ... Full text Link to item Cite

Congenital vulnerability of cutaneous segments arising from skin mosaicism: A genetic basis for locus minoris resistentiae.

Journal article Clin Dermatol · 2014 Mosaicism is a biologic phenomenon that describes an individual who has two or more populations of cells with distinct genotypes and concomitant patterned phenotypes (eg, lines of Blaschko). It is distinguished from chimerism by its derivation from a singl ... Full text Link to item Cite

A high frequency of activating extracellular domain ERBB2 (HER2) mutation in micropapillary urothelial carcinoma.

Journal article Clin Cancer Res · January 1, 2014 PURPOSE: Micropapillary urothelial carcinoma (MPUC) is a rare and aggressive form of bladder cancer. We conducted genomic analyses [next-generation sequencing (NGS)] of MPUC and non-micropapillary urothelial bladder carcinomas (non-MPUC) to characterize th ... Full text Link to item Cite