Publications by authors named "Alessio Giubellino"

Spitz tumors are a heterogeneous group of melanocytic neoplasms ranging from benign Spitz nevi to malignant Spitz melanomas, with atypical Spitz tumors/Spitz melanocytoma occupying an intermediate position within this biological spectrum. A hallmark of all these lesions is the presence of specific genetic alterations, distinct from those seen in common nevi, that include, among others, receptor tyrosine kinase fusions. NTRK3 gene rearrangements are rare, with only a few fusion partners described in the existing literature (ETV6, MYO5A, MYH9, and SQSTM1).

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Congenital melanocytic nevi (CMN) are benign tumors present at birth or arising in the first few months of life. A small subset of these nevi present with mild atypical features and heterogeneous differentiation, including Schwannian differentiation. We present a case of a 3-week-old with a 7 cm red/purple scalp nodule consistent with CMN with mild atypical heterogeneous areas.

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Article Synopsis
  • - Spitz tumors are rare melanocytic lesions mostly found in younger individuals but can occur at any age. They usually show distinct cellular features and often have mutations or fusions driving their development.
  • - A case study details a 43-year-old woman with a malignant Spitz tumor, identified through histological and immunohistochemical analysis showing various protein expressions. Genetic testing revealed a specific fusion gene (MAP3K8::ABLIM1) and additional mutations linked to a poorer prognosis.
  • - This case highlights a new variant of MAP3K8 fusion associated with Spitz melanoma, contributing to our understanding of its diverse cellular and genetic characteristics and potential implications for patient outcomes.
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Introduction: Metastatic uveal melanoma (mUM) is a difficult to treat disease. The liver is the primary site of metastasis in most patients, though uveal melanoma spreads widely in advanced disease. The only FDA approved immunotherapy medication for metastatic uveal melanoma is the HLA-A02:01 restricted bispecific T cell engager drug, Tebentafusp.

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Background: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic skin-blistering disorder that often progresses to metastatic cutaneous squamous cell carcinoma (cSCC) at chronic wound sites. Chondroitin sulfate proteoglycan 4 (CSPG4) is a cell-surface proteoglycan that is an oncoantigen in multiple malignancies, where it modulates oncogenic signalling, drives epithelial-to-mesenchymal transition (EMT) and enables cell motility.

Objectives: To evaluate CSPG4 expression and function in RDEB cSCC.

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The melanoma tumor microenvironment is a complex milieu of cancer, inflammatory, and stromal cells. In this context, chemokines play a pivotal role in recruiting inflammatory cells and influence the tumor, exerting both pro-tumorigenic and anti-tumoral roles. Interactions between these cells is what ultimately hold together and transform the tumor into an efficient machine.

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Article Synopsis
  • - Spitz and Spitzoid lesions are complex skin growths that challenge dermatopathology due to their varying nature, ranging from benign to malignant forms, including rare intermediate types.
  • - Recent advancements in understanding these lesions have come from identifying specific gene translocations, which help classify the different types more effectively.
  • - The study utilized gene expression profiling to uncover distinct genetic clusters among these lesions, revealing patterns that could aid in their diagnosis and classification.
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Article Synopsis
  • Acral lentiginous melanoma (ALM) is a rare but aggressive form of skin cancer that mainly affects palms, soles, and nails, with higher occurrences in dark-skinned populations.
  • A study assessed the expression of key proteins linked to tumor growth and treatment resistance (BCL2, MCL1, BIM, and BRAF V600E) in melanoma samples from White and Hispanic patients, noting no significant differences in protein expression between ALM and non-ALM tumors.
  • The results suggest that since both ALM and non-ALM tumors frequently express these proteins, patients might benefit from new therapies aimed at inducing apoptosis (programmed cell death).
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Malignant basaloid neoplasms of the skin are frequent, and their accurate diagnosis holds paramount importance for treatment and prognosis. However, these neoplasms can present diagnostic challenges because of their extensive differential diagnosis, which encompasses cutaneous metastasis among many other possibilities. We present a case of a 74-year-old man with a history of p16-positive palatine tonsil squamous cell carcinoma (SCC) treated with surgery and adjuvant radiation with no prior evidence of recurrence who presented to the dermatologist with 2 chin papules.

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Melanoma represents the leading cause of death from cutaneous malignancy [...

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Article Synopsis
  • Assessing sentinel lymph node status is crucial for melanoma patients for understanding prognosis and treatment options, with pathologists playing a key role in this evaluation.
  • Various methods have been used to measure tumor burden in sentinel lymph nodes over the years, but no single method is currently reliable enough to be the sole predictor of prognosis.
  • The management of patients with positive sentinel lymph nodes has evolved towards a more conservative approach for certain cases, and this review explores past practices, current methodologies, and potential future directions based on clinical trials.
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Background: Malignant melanoma is the leading cause of death due to cutaneous malignancy. Immunocompromised individuals have an elevated risk of developing melanoma. We aimed to provide histopathologic and statistical characterization of melanoma development in immunocompromised patients.

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Cutaneous melanoma is the most common lethal malignancy among skin cancers and has a high propensity for metastasis. Understanding the mechanisms governing tumorigenesis, progression and metastasis as well as identifying biomarkers guiding risk stratification and management of the disease is essential. MACC1 has been found to play key roles in cancer cell migration, invasion, epithelial-to-mesenchymal transition, and metastasis in various types of cancer, through activation of MET signaling.

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The recurrent nevus phenomenon represents the persistence of a nevus within a scar from a prior biopsy site, with the acquisition of clinical and histologic features frequently overlapping with those of melanoma, posing relevant diagnostic challenges. Similar features are recognized in nevi that have undergone recent or chronic trauma and in sclerosing nevi. Any type of nevus may be subject to this phenomenon.

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Melanoma is the leading cause of death from cutaneous malignancy. While targeted therapy and immunotherapy with checkpoint inhibitors have significantly decreased the mortality rate of this disease, advanced melanoma remains a therapeutic challenge. Here, we confirmed that interferon-gamma (IFN-γ)-induced PD-L1 expression in melanoma cell lines.

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The overexpression and activation of the MET receptor tyrosine kinase has been identified in many human malignancies, but its role in canine cancer has only been minimally investigated. In this study we evaluated the expression of MET in two canine malignant melanoma (CMM) cell lines as well as in 30 CMM tissue samples that were collected from the clinical service at our institution. We were able to confirm the expression of the MET protein in both melanoma cell lines, and we demonstrated MET activation by its ligand, HGF, through phosphorylation, in Western blot analysis.

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Background: Categorization of biopsy specimens into inflammatory reaction patterns is central to dermatopathologic assessment. Mixed inflammatory patterns are poorly characterized and may represent clinicopathologic challenges. The purpose of this study was to identify clinical and histopathologic findings associated with the mixed spongiotic-interface dermatitis (SID) histopathologic pattern.

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Aims: Primary head/neck mucosal melanomas (MMs) are rare and exhibit aggressive biologic behaviour and elevated mutational loads. The molecular mechanisms responsible for high genomic instability observed in head/neck MMs remain elusive. The DNA cytosine deaminase APOBEC3B (A3B) constitutes a major endogenous source of mutation in human cancer.

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Kaposi sarcoma (KS) is a rare low-grade angioproliferative neoplasm associated with human herpesvirus 8 (HHV-8) infection with multiple clinical subtypes and varying histopathologic patterns. Histologically, many different variants of KS have been reported, yet all can be difficult to recognize and must be differentiated from other vascular tumors. In this report, we studied fourteen cases of a newly described variant of KS reminiscent of a well-differentiated angiosarcoma (angiosarcoma-like KS).

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Spitz tumors represent a distinct subtype of melanocytic lesions with characteristic histopathologic features, some of which are overlapping with melanoma. More common in the pediatric and younger population, they can be clinically suspected by recognizing specific patterns on dermatoscopic examination, and several subtypes have been described. We now classify these lesions into benign Spitz nevi, intermediate lesions identified as "atypical Spitz tumors" (or Spitz melanocytoma) and malignant Spitz melanoma.

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Introduction: Nodular skin lesions in patients with acute myeloid leukemia (AML) raise clinical suspicion for leukemia cutis versus fungal infections. Here, we report a rare case of treatment-related erythema nodosum (EN) in a patient with AML.

Case Report: Approximately 5 weeks after the initiation of sorafenib and one week after azacitidine initiation, a 32-year-old man with primary refractory AML presented with several painful red nodules on the lower extremities.

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Lenalidomide (LEN) is increasingly being used for the treatment of multiple myeloma (MM). Adverse cutaneous reactions to LEN are common and present almost exclusively within one month of initiating therapy. We report a case of delayed-onset LEN-associated eruption presenting over three years after starting treatment.

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Background: Cutaneous adverse drug reaction (CADR) is common in both inpatient and outpatient clinical settings and has been associated with a large variety of medications. Drug reactions represent a significant burden to the healthcare system due to increased hospital stay durations and associated costs. Moreover, some of these reactions may be life-threatening.

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