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Research paper thumbnail of Association of Excision Margin Size With Local Recurrence and Survival in Patients With T1a Melanoma at Critical Structures

JAMA Dermatology

ImportanceMelanoma guidelines recommend surgical excision with 10-mm margins for T1 melanoma. How... more ImportanceMelanoma guidelines recommend surgical excision with 10-mm margins for T1 melanoma. However, this procedure may be problematic at sites close to critical structures such as the scalp, face, external genitalia, acral, periumbilical, and perineal areas.ObjectiveTo compare outcomes of wide (10-mm margins) vs narrow (5-mm margins) excision in patients with T1a melanoma near critical structures.Design, Setting, and ParticipantsThis cohort study was a retrospective comparison of 1341 consecutive patients aged 18 years or older from the National Cancer Institute of Milan, Italy, diagnosed between 2001 and 2020 with T1a cutaneous melanoma close to critical structures who accepted wide excision vs narrow excision.ExposuresLocal recurrence and melanoma-specific mortality (MSM) rates with 5-mm vs 10-mm excision margins.Main Outcomes and MeasuresThe primary aim of the study was to ascertain whether a narrower (5-mm) vs wider (10-mm) excision margin was associated with local recurrence...

Research paper thumbnail of Similar local recurrence and survival in patients with T1 radial growth phase melanoma on head and neck treated with 5 or 10 mm margins: A retrospective study

Journal of the European Academy of Dermatology and Venereology

Research paper thumbnail of Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges

Annals of Neurology, 2018

Objective: Comprehensively describe the phenotypic spectrum of sporadic Fatal Insomnia (sFI) to f... more Objective: Comprehensively describe the phenotypic spectrum of sporadic Fatal Insomnia (sFI) to facilitate diagnosis and management of this rare and peculiar prion disorder. Methods: A survey among major prion disease reference Centres in Europe identified 13 patients diagnosed with sFI in the past 20 years. We undertook a detailed analysis of clinical and histopathological features, and the results of diagnostic investigations. Results: Mean age at onset was 43 years and mean disease duration 30 months. Early clinical findings included psychiatric, sleep and oculomotor disturbances, followed by cognitive decline and postural instability. In all tested patients, video-polysomnography demonstrated a severe reduction of total sleep time and/or a disorganized sleep. CSF levels of proteins 14-3-3 and t-tau were unrevealing, the concentration of neurofilament light protein (NfL) was more consistently increased, and the real-time quaking-induced conversion assay (RT-QuIC) revealed a positive prion seeding activity in 60% of cases. EEG and MRI showed non-specific findings, whereas FDG-PET demonstrated a profound bilateral thalamic hypometabolism in 71% of cases. Molecular analyses revealed PrP Sc type 2 and methionine homozygosity at PRNP codon 129 in all cases. Interpretation: sFI is a disease of young or middle-aged adults, which is difficult to reconcile with the hypothesis of a spontaneous etiology related to stochastic, age-related, PrP misfolding. The combination of psychiatric and/or sleep-related symptoms with oculomotor abnormalities represent early peculiar clinical feature of sFI to be valued in the differential diagnosis. Video-polysomnography, FDG-PET, and especially CSF prion RT-QuIC and NfL constitute the most promising supportive diagnostic tests in vivo.

Research paper thumbnail of Changes in thyroid fine needle aspiration practice during the COVID‐19 pandemic

Cytopathology, 2021

This is an open access article under the terms of the Creat ive Commo ns Attri bution License, wh... more This is an open access article under the terms of the Creat ive Commo ns Attri bution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Research paper thumbnail of Sinonasal teratocarcinosarcoma treated with surgery and proton beam therapy: clinical, histological aspects and differential diagnosis of a new case

Pathologica, 2021

Sinonasal teratocarcinosarcoma is a rare aggressive malignant tumor with a primary setting involv... more Sinonasal teratocarcinosarcoma is a rare aggressive malignant tumor with a primary setting involving the nasal cavity followed by the ethmoid sinus and maxillary sinus. It accounts for approximately 3% of all head and neck cancers and less than 1% of all tumors. Nasal obstruction, recurrent epistaxis and headache represent the typical clinical presentation. Imaging shows the presence of a mass in the nasal cavity. The treatment usually consists of surgery and adjuvant intensity modulated radiotherapy. The rarity and the variability of the histological features make its diagnosis particularly difficult. In this paper, we report a case of sinonasal teratocarcinosarcoma in a 62-year-old male treated with a multidisciplinary approach. As an alternative to intensity modulated radiotherapy, we proposed proton beam therapy for the first time. The patient benefited from the new and personalized protocol that provided excellent results and few adverse effects. At 45 months follow-up there is no evidence of relapse and the patient is in good health.

Research paper thumbnail of Association of Excision Margin Size With Local Recurrence and Survival in Patients With T1a Melanoma at Critical Structures

JAMA Dermatology

ImportanceMelanoma guidelines recommend surgical excision with 10-mm margins for T1 melanoma. How... more ImportanceMelanoma guidelines recommend surgical excision with 10-mm margins for T1 melanoma. However, this procedure may be problematic at sites close to critical structures such as the scalp, face, external genitalia, acral, periumbilical, and perineal areas.ObjectiveTo compare outcomes of wide (10-mm margins) vs narrow (5-mm margins) excision in patients with T1a melanoma near critical structures.Design, Setting, and ParticipantsThis cohort study was a retrospective comparison of 1341 consecutive patients aged 18 years or older from the National Cancer Institute of Milan, Italy, diagnosed between 2001 and 2020 with T1a cutaneous melanoma close to critical structures who accepted wide excision vs narrow excision.ExposuresLocal recurrence and melanoma-specific mortality (MSM) rates with 5-mm vs 10-mm excision margins.Main Outcomes and MeasuresThe primary aim of the study was to ascertain whether a narrower (5-mm) vs wider (10-mm) excision margin was associated with local recurrence...

Research paper thumbnail of Similar local recurrence and survival in patients with T1 radial growth phase melanoma on head and neck treated with 5 or 10 mm margins: A retrospective study

Journal of the European Academy of Dermatology and Venereology

Research paper thumbnail of Sporadic Fatal Insomnia in Europe: Phenotypic Features and Diagnostic Challenges

Annals of Neurology, 2018

Objective: Comprehensively describe the phenotypic spectrum of sporadic Fatal Insomnia (sFI) to f... more Objective: Comprehensively describe the phenotypic spectrum of sporadic Fatal Insomnia (sFI) to facilitate diagnosis and management of this rare and peculiar prion disorder. Methods: A survey among major prion disease reference Centres in Europe identified 13 patients diagnosed with sFI in the past 20 years. We undertook a detailed analysis of clinical and histopathological features, and the results of diagnostic investigations. Results: Mean age at onset was 43 years and mean disease duration 30 months. Early clinical findings included psychiatric, sleep and oculomotor disturbances, followed by cognitive decline and postural instability. In all tested patients, video-polysomnography demonstrated a severe reduction of total sleep time and/or a disorganized sleep. CSF levels of proteins 14-3-3 and t-tau were unrevealing, the concentration of neurofilament light protein (NfL) was more consistently increased, and the real-time quaking-induced conversion assay (RT-QuIC) revealed a positive prion seeding activity in 60% of cases. EEG and MRI showed non-specific findings, whereas FDG-PET demonstrated a profound bilateral thalamic hypometabolism in 71% of cases. Molecular analyses revealed PrP Sc type 2 and methionine homozygosity at PRNP codon 129 in all cases. Interpretation: sFI is a disease of young or middle-aged adults, which is difficult to reconcile with the hypothesis of a spontaneous etiology related to stochastic, age-related, PrP misfolding. The combination of psychiatric and/or sleep-related symptoms with oculomotor abnormalities represent early peculiar clinical feature of sFI to be valued in the differential diagnosis. Video-polysomnography, FDG-PET, and especially CSF prion RT-QuIC and NfL constitute the most promising supportive diagnostic tests in vivo.

Research paper thumbnail of Changes in thyroid fine needle aspiration practice during the COVID‐19 pandemic

Cytopathology, 2021

This is an open access article under the terms of the Creat ive Commo ns Attri bution License, wh... more This is an open access article under the terms of the Creat ive Commo ns Attri bution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Research paper thumbnail of Sinonasal teratocarcinosarcoma treated with surgery and proton beam therapy: clinical, histological aspects and differential diagnosis of a new case

Pathologica, 2021

Sinonasal teratocarcinosarcoma is a rare aggressive malignant tumor with a primary setting involv... more Sinonasal teratocarcinosarcoma is a rare aggressive malignant tumor with a primary setting involving the nasal cavity followed by the ethmoid sinus and maxillary sinus. It accounts for approximately 3% of all head and neck cancers and less than 1% of all tumors. Nasal obstruction, recurrent epistaxis and headache represent the typical clinical presentation. Imaging shows the presence of a mass in the nasal cavity. The treatment usually consists of surgery and adjuvant intensity modulated radiotherapy. The rarity and the variability of the histological features make its diagnosis particularly difficult. In this paper, we report a case of sinonasal teratocarcinosarcoma in a 62-year-old male treated with a multidisciplinary approach. As an alternative to intensity modulated radiotherapy, we proposed proton beam therapy for the first time. The patient benefited from the new and personalized protocol that provided excellent results and few adverse effects. At 45 months follow-up there is no evidence of relapse and the patient is in good health.