Publications by authors named "Massi D"

Background: Cutaneous melanoma (CM) is rare in adolescents and young adults (AYA, 15-39 years at cancer diagnosis) and studies on CM in AYAs are scarce. Our aim is to update CM incidence and survival in European AYAs and to compare incidence and survival both with other age groups and over time.

Methods: We used the EUROCARE-6 database (108 cancer registries; 29 EU countries), calculating incidence rates (IR) per 100,000 individuals/year in the European population (years of diagnosis: 2006-2013), 5-year relative survival (RS), and 5-year RS conditional to surviving the first year after diagnosis, for the follow-up period 2010-2014 (cases diagnosed in 2006-2013).

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Human leishmaniasis is facing important epidemiological changes in Southern Europe, driven by increased urbanization, climate changes, emerging of new animal reservoirs, shifts in human behavior and a growing population of immunocompromised and elderly individuals. In this evolving epidemiological landscape, we analyzed the clinical and epidemiological characteristics of human leishmaniasis in the Tuscany region of Central Italy. Through a multicentric retrospective analysis, we collected clinical and demographic data about all cases of leishmaniasis recorded between 2018 and 2023.

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  • - Chorioangiomas are benign tumors originating from chorionic tissue, found in about 1% of all examined placentas, and are mostly small and asymptomatic, often going unnoticed during ultrasounds.
  • - Larger chorioangiomas (over 4-5 cm) can be detected through ultrasound and are linked to potential complications for both the mother and fetus, such as preeclampsia and fetal growth issues.
  • - The study analyzes 30 cases of placental chorioangiomas, focusing on their clinical and pathological characteristics and exploring the possible molecular mechanisms behind their occurrence.
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Background: Data on the efficacy and safety of anti PD-1 antibodies in children and adolescents (CA) with melanoma are lacking. The aim of this study was to determine outcomes of CA melanoma patients receiving anti PD-1 antibodies.

Methods: Melanoma patients ≤18 years treated with anti PD-1 were retrospectively retrieved from 15 academic centers.

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  • Targeting the PD1/PD-L1 immune checkpoint pathway has become a key treatment strategy for melanoma patients, with PD-L1 expression testing becoming essential for access to immunotherapy.
  • Current methods for evaluating PD-L1 in melanoma samples face significant challenges despite increasing demand and experience in the field.
  • This technical report introduces and validates a double staining protocol for PD-L1/SOX10 that enhances the ability to clearly identify PD-L1 positive melanoma cells and encourages further research on its practical applications and consistency across different pathologists.
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Background: Perineural invasion (PNI) is a complex molecular process histologically represented by the presence of tumor cells within the peripheral nerve sheath and defined when infiltration into the 3 nerve sheath layers can be clearly identified. Several molecular pathways have been implicated in cSCC. PNI is a well-recognized risk factor in cutaneous squamous cell carcinoma (cSCC) and its accurate assessment represents a challenging field in pathology daily practice.

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A subtype of cutaneous lupus erythematosus known as lupus erythematosus tumidus (LET) is characterized by sun-exposed areas that typically display urticaria-like papules and plaques. For LET, systemic therapy with antimalarials - particularly hydroxychloroquine (HCQ) - is the first line of treatment. Even though the safety profile of these medications appears to be high, there have been very few reports of side effects in the literature, including hemolytic anemia, retinal toxicity, maculopapular rash, gastrointestinal disturbance, and blue-gray discoloration of the skin or mucous membranes.

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Despite being early-stage tumors, thin cutaneous melanomas contribute significantly to mortality and have a rising incidence. A retrospective case-control study was performed to identify clinical-dermoscopic and histopathological variables linked to local and distant metastases in melanomas ≤0.8 mm.

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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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Background: Africans are underrepresented in Huntington's disease (HD) research. A European ancestor was postulated to have introduced the mutant Huntingtin (mHtt) gene to the continent; however, recent work has shown the existence of a unique Htt haplotype in South-Africa specific to indigenous Africans.

Objective: We aimed to investigate the CAG trinucleotide repeats expansion in the Htt gene in a geographically diverse cohort of patients with chorea and unaffected controls from sub-Saharan Africa.

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  • 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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Among nevus-associated melanomas, which overall account for 20%-30% of all melanomas, those arising specifically in congenital melanocytic nevi are infrequent, but can be disproportionately frequent in childhood and adolescence. Congenital melanocytic nevi (CMNi) are common benign melanocytic tumors that are present at birth or become apparent in early childhood. They are classified based on the projected adult size.

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Merkel cell polyomavirus (MCPyV) is associated with Merkel cell carcinoma (MCC). In tumor cells the MCPyV large T antigen (LT-Ag) is frequently found truncated and this is considered a major tumor-specific signature. The role of MCPyV in other, non-MCC tumours, is little known.

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Background/objectives: Perineural invasion (PNI), classified according to its presence or absence in tumor specimens, is recognized as a poor prognostic factor in pancreatic ductal adenocarcinoma (PDAC) patients. Herein, we identified five histological features of PNI and investigated their impact on survival outcomes of PDAC resected patients.

Methods: Five histopathological features of PNI (diameter, number, site, sheath involvement, and mitotic figures within perineural invasion) were combined in an additional final score (ranging from 0 to 8), and clinical data of PDAC patients were retrospectively analyzed.

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  • The study focuses on measuring the size of melanoma tumors in sentinel nodes (SN) to decide on additional treatment for patients with stage III melanoma.
  • Measuring these tumors accurately is very important, especially when the size is around 1.0 mm.
  • The research showed that different pathologists often get different measurements for the same tumors, which can affect treatment decisions, especially if there are many small tumors involved.
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Periocular sebaceous carcinoma (PSC) is a rare, aggressive, and potentially metastatic adnexal malignancy. Due to the ability of PSC to resemble several benign and malignant conditions, diagnosis is often delayed or mistaken. In addition, even with a known diagnosis, choosing the right treatment is still an open debate.

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Current definitions of migraine that are based mainly on clinical characteristics do not account for other patient's features such as those related to an impaired quality of life, due to loss of social life and productivity, and the differences related to the geographical distribution of the disease and cultural misconceptions which tend to underestimate migraine as a psychosocial rather than neurobiological disorder.Global differences definition, care access, and health equity for headache disorders, especially migraine are reported in this paper from a collaborative group of the editorial board members of the Journal of Headache and Pain. Other components that affect patients with migraine, in addition to the impact promoted by the migraine symptoms such as stigma and social determinants, are also reported.

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  • Cutaneous mixed tumors are categorized into apocrine and eccrine types, with apocrine tumors commonly featuring a unique plasmacytoid myoepithelial component, particularly in hyaline cell-rich types.
  • This study analyzed 41 cases, revealing that apocrine tumors frequently exhibited PLAG1 and HMGA2 fusions, while eccrine tumors showed distinct SOX10 internal duplications through RNA sequencing.
  • Clustering analysis highlighted the genetic differences across tumor types, confirming a unique profile for eccrine mixed tumors and establishing relationships among various tumor types, contributing to a deeper understanding of their molecular characteristics.
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Purpose: The main purpose of treatment of advanced ocular surface and periocular malignant tumors is to eradicate the tumor while trying to preserve visual function and aesthetics. Our purpose is to describe the outcome of a retrospective case series of 10 patients with advanced ocular surface and periocular tumors treated surgically in first instance and then with postoperative interventional radiotherapy (IRT/Brachiterapy).

Materials And Methods: We describe the clinicopathological features, treatments and outcome, in a retrospective case series of 10 patients with advanced tumors involving ocular surface (staging ≥ T2) and eyelids (staging ≥ T3), with involvement of periocular and/or orbit tissues.

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Histopathological evaluation of lymph nodes in Merkel cell carcinoma has become crucial in progression estimation and treatment modification. This study was undertaken to determine the most sensitive immunohistochemical panel for detecting MCC nodal metastases. We included 56 patients with 102 metastatic MCC lymph nodes, which were tested with seven antibodies: cytokeratin (CKAE1/AE3), CK20, chromogranin A, synaptophysin, INSM1, SATB2, and neurofilament (NF).

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Meningiomas are tumours typically derived from the meningothelial cells of the arachnoid mater. They most often arise in intracranial, intraspinal, or orbital locations. Ectopic meningiomas, described as primary meningiomas with no intracranial involvement, are definitely unconventional.

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