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18 results on '"Chiarucci, Federico"'

4. Association of the Genomic Profile of Medullary Thyroid Carcinoma with Tumor Characteristics and Clinical Outcomes in an International Multicenter Study

Author

Xu, Bin, primary, Viswanathan, Kartik, additional, Ahadi, Mahsa S., additional, Ahmadi, Sara, additional, Alzumaili, Bayan, additional, Bani, Mohamed-Amine, additional, Baudin, Eric, additional, Behrman, David Blake, additional, Capelletti, Marzia, additional, Chau, Nicole G, additional, Chiarucci, Federico, additional, Chou, Angela, additional, Clifton-Bligh, Roderick, additional, Coluccelli, Sara, additional, de Biase, Dario, additional, De Leo, Antonio, additional, Dogan, Snjezana, additional, Fagin, James A, additional, Fuchs, Talia, additional, Glover, Anthony Robert, additional, Hadoux, Julien, additional, Lacroix, Ludovic, additional, Lamartina, Livia, additional, Lubin, Daniel J., additional, Luxford, Catherine, additional, Magliocca, Kelly, additional, Maloberti, Thais, additional, Mohanty, Abhinita S., additional, Najdawi, Fedaa, additional, Nigam, Aradhya, additional, Papachristos, Alexander James, additional, Repaci, Andrea, additional, Robinson, Bruce, additional, Scoazec, Jean-Yves, additional, Shi, Qiuying, additional, Sidhu, Stan, additional, Solaroli, Erica, additional, Sywak, Mark, additional, Tuttle, R Michael, additional, Untch, Brian R, additional, Barletta, Justine A, additional, Al Ghuzlan, Abir, additional, Gill, Anthony J, additional, Ghossein, Ronald, additional, Tallini, Giovanni, additional, and Ganly, Ian, additional

Published
2023
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5. Association of the Genomic Profile of Medullary Thyroid Carcinoma with Tumor Characteristics and Clinical Outcomes in an International Multicenter Study.

Author

Xu, Bin, Viswanathan, Kartik, Ahadi, Mahsa S., Ahmadi, Sara, Alzumaili, Bayan, Bani, Mohamed-Amine, Baudin, Eric, Behrman, David Blake, Capelletti, Marzia, Chau, Nicole G., Chiarucci, Federico, Chou, Angela, Clifton-Bligh, Roderick, Coluccelli, Sara, de Biase, Dario, De Leo, Antonio, Dogan, Snjezana, Fagin, James A., Fuchs, Talia L., and Glover, Anthony Robert

Subjects
SOMATIC mutation, THYROID gland tumors, MEDULLARY thyroid carcinoma, TREATMENT effectiveness, THYROID cancer, TUMOR grading, PROGNOSIS
Abstract

Purpose: The prognostic importance of RET and RAS mutations and their relationship to clinicopathologic parameters and outcomes in medullary thyroid carcinoma (MTC) need to be clarified. Experimental Design: A multicenter retrospective cohort study was performed utilizing data from 290 patients with MTC. The molecular profile was determined and associations were examined with clinicopathologic data and outcomes. Results:RET germ line mutations were detected in 40 patients (16.3%). Somatic RET and RAS mutations occurred in 135 (46.9%) and 57 (19.8%) patients, respectively. RETM918T was the most common somatic RET mutation (n = 75). RET somatic mutations were associated with male sex, larger tumor size, advanced American Joint Committee Cancer (AJCC) stage, vascular invasion, and high International Medullary Thyroid Carcinoma Grading System (IMTCGS) grade. When compared with other RET somatic mutations, RETM918T was associated with younger age, AJCC (eighth edition) IV, vascular invasion, extrathyroidal extension, and positive margins. RET somatic or germ line mutations were significantly associated with reduced distant metastasis-free survival on univariate analysis, but there were no significant independent associations on multivariable analysis, after adjusting for tumor grade and stage. There were no significant differences in outcomes between RET somatic and RET germ line mutations, or between RETM918T and other RET mutations. Other recurrent molecular alterations included TP53 (4.2%), ARID2 (2.9%), SETD2 (2.9%), KMT2A (2.9%), and KMT2C (2.9%). Among them, TP53 mutations were associated with decreased overall survival (OS) and disease-specific survival (DSS), independently of tumor grade and AJCC stage. Conclusions:RET somatic mutations were associated with high-grade, aggressive primary tumor characteristics, and decreased distant metastatic-free survival but this relationship was not significant after accounting for tumor grade and disease stage. RETM918T was associated with aggressive primary tumors but was not independently associated with clinical outcomes. TP53 mutation may represent an adverse molecular event associated with decreased OS and DSS in MTC, but its prognostic value needs to be confirmed in future studies. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Ki67 proliferation index in medullary thyroid carcinoma: a comparative study of multiple counting methods and validation of image analysis and deep learning platforms

Author

Nadeem, Saad, primary, Hanna, Matthew G, additional, Viswanathan, Kartik, additional, Marino, Joseph, additional, Ahadi, Mahsa, additional, Alzumaili, Bayan, additional, Bani, Mohamed‐Amine, additional, Chiarucci, Federico, additional, Chou, Angela, additional, De Leo, Antonio, additional, Fuchs, Talia L, additional, Lubin, Daniel J, additional, Luxford, Catherine, additional, Magliocca, Kelly, additional, Martinez, Germán, additional, Shi, Qiuying, additional, Sidhu, Stan, additional, Al Ghuzlan, Abir, additional, Gill, Anthony J, additional, Tallini, Giovanni, additional, Ghossein, Ronald, additional, and Xu, Bin, additional

Published
2023
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7. Expanding the Spectrum of BRAF Non-V600E Mutations in Thyroid Nodules: Evidence-Based Data from a Tertiary Referral Centre

Author

De Leo, Antonio, primary, Serban, Daniela, additional, Maloberti, Thais, additional, Sanza, Viviana, additional, Coluccelli, Sara, additional, Altimari, Annalisa, additional, Gruppioni, Elisa, additional, Chiarucci, Federico, additional, Corradini, Angelo Gianluca, additional, Repaci, Andrea, additional, Colapinto, Alessandra, additional, Nannini, Margherita, additional, Pantaleo, Maria A., additional, de Biase, Dario, additional, and Tallini, Giovanni, additional

Published
2023
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9. The EORTC protocol for sentinel lymph node biopsy (SLNB) reveals a high number of nodal nevi and a strong association with nevus-associated melanoma

Author

Ricci, Costantino, primary, Dika, Emi, additional, Lambertini, Martina, additional, Ambrosi, Francesca, additional, Chiarucci, Federico, additional, Chillotti, Stefano, additional, Fiorentino, Michelangelo, additional, Fabbri, Erich, additional, Tassone, Daniela, additional, Veronesi, Giulia, additional, Tartari, Federico, additional, and Corti, Barbara, additional

Published
2022
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11. What Is New on Ovarian Carcinoma: Integrated Morphologic and Molecular Analysis Following the New 2020 World Health Organization Classification of Female Genital Tumors

Author

De Leo, Antonio, primary, Santini, Donatella, additional, Ceccarelli, Claudio, additional, Santandrea, Giacomo, additional, Palicelli, Andrea, additional, Acquaviva, Giorgia, additional, Chiarucci, Federico, additional, Rosini, Francesca, additional, Ravegnini, Gloria, additional, Pession, Annalisa, additional, Turchetti, Daniela, additional, Zamagni, Claudio, additional, Perrone, Anna Myriam, additional, De Iaco, Pierandrea, additional, Tallini, Giovanni, additional, and de Biase, Dario, additional

Published
2021
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15. Expanding the Spectrum of BRAF Non-V600E Mutations in Thyroid Nodules: Evidence-Based Data from a Tertiary Referral Centre

Author

Antonio De Leo, Daniela Serban, Thais Maloberti, Viviana Sanza, Sara Coluccelli, Annalisa Altimari, Elisa Gruppioni, Federico Chiarucci, Angelo Gianluca Corradini, Andrea Repaci, Alessandra Colapinto, Margherita Nannini, Maria A. Pantaleo, Dario de Biase, Giovanni Tallini, De Leo, Antonio, Serban, Daniela, Maloberti, Thai, Sanza, Viviana, Coluccelli, Sara, Altimari, Annalisa, Gruppioni, Elisa, Chiarucci, Federico, Corradini, Angelo Gianluca, Repaci, Andrea, Colapinto, Alessandra, Nannini, Margherita, Pantaleo, Maria A, de Biase, Dario, and Tallini, Giovanni

Subjects
Organic Chemistry, thyroid tumors, General Medicine, Catalysis, BRAF, Computer Science Applications, Inorganic Chemistry, next-generation sequencing, noncanonical mutation, Physical and Theoretical Chemistry, mutation, Molecular Biology, Spectroscopy
Abstract

The BRAF p.V600E mutation represents the most specific marker for papillary thyroid carcinoma and is potentially related to aggressive behavior and persistent disease. BRAF alterations other than the p.V600E are less common in thyroid carcinoma and represent an alternative mechanism of BRAF activation with unclear clinical significance. The study aims to describe the frequency and clinicopathologic characteristics of BRAF non-V600E mutations in a large cohort (1654 samples) of thyroid lesions characterized by next-generation sequencing. BRAF mutations have been found in 20.3% (337/1654) of thyroid nodules, including classic (p.V600E) mutation in 19.2% (317/1654) of samples and non-V600E variants in 1.1% of cases (19/1654). BRAF non-V600E alterations include 5 cases harboring p.K601E, 2 harboring p.V600K substitutions, 2 with a p.K601G variant, and 10 cases with other BRAF non-V600E alterations. BRAF non-V600E mutations have been reported in one case of follicular adenoma, three cases of conventional papillary thyroid carcinoma, eight cases of follicular variant of papillary carcinomas, one case of columnar cell variant papillary thyroid carcinoma, one case of oncocytic follicular carcinoma, and two bone metastasis of follicular thyroid carcinoma. We confirm that BRAF non-V600E mutations are uncommon and typically found in indolent follicular-patterned tumors. Indeed, we show that BRAF non-V600E mutations can be found in tumors with metastatic potential. However, in both aggressive cases, the BRAF mutations were concomitant with other molecular alterations, such as TERT promoter mutation.

Published
2023
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16. Hemorrhagic Schwannoma of the Cauda Equina: Case Report and Review of the Literature

Author

Filippo Friso, Nicola Acciarri, Sofia Asioli, Anna Cremonini, Maria Pia Foschini, Laura Ludovica Gramegna, Francesco Toni, Federico Chiarucci, Viscardo Paolo Fabbri, Fabbri, Viscardo P, Friso, Filippo, Chiarucci, Federico, Gramegna, Laura Ludovica, Toni, Francesco, Foschini, Maria P, Asioli, Sofia, Cremonini, Anna, and Acciarri, Nicola

Subjects
medicine.medical_specialty, business.industry, Cauda equina, Case Report, hemorrhagic schwannoma, Schwannoma, spinal bleeding, medicine.disease, intradural schwannoma, medicine.anatomical_structure, medicine, Radiology, flaccid paraplegia, business
Abstract

Spinal intradural hemorrhage is a rare event; the most common causes of spinal bleeding are traumas, medical therapy with anticoagulants and thrombolytics, vascular malformations, and congenital defects of coagulation. Rarely, spinal cord tumors may cause hemorrhage. Herein, we report the case of a patient with acute and quickly worsening lumbar pain: the neurological examination revealed a flaccid paraplegia caused by an intradural lesion extending on the right side of the spinal cord from T1 to L2 vertebral level. Pathological examination revealed an hemorrhagic schwannoma. Acute spinal subdural hemorrhage caused by spinal schwannomas is a very rare occurrence (29 cases only have been previously reported). Review of the literature with clinico-diagnostic features is presented, surgical treatment is explained, and pathological findings with possible etiopathogenesis of hemorrhage are described.

Published
2021

17. Co-expression of Myoepithelial and Melanocytic Features in Carcinoma Ex Pleomorphic Adenoma

Author

Ernesto Pasquini, Maria Pia Foschini, Barbara Corti, Costantino Ricci, Tiziana Balbi, Ottavio Piccin, Francesca Ambrosi, Federico Chiarucci, Ricci, Costantino, Chiarucci, Federico, Ambrosi, Francesca, Balbi, Tiziana, Corti, Barbara, Piccin, Ottavio, Pasquini, Ernesto, and Foschini, Maria Pia

Subjects
0301 basic medicine, Image-Guided Biopsy, Male, Pathology, medicine.medical_specialty, Adenoma, Pleomorphic, Melanocytic markers, Case Reports, Myoepithelioma, Pathology and Forensic Medicine, Melanocytic marker, Pleomorphic adenoma, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Fatal Outcome, Carcinoma, Medicine, Humans, Melanoma, Aged, Neoplasm Staging, Melanoma metastasis, Salivary gland, business.industry, Myoepithelial cell, Middle Aged, medicine.disease, Parotid gland, Parotid Neoplasms, 030104 developmental biology, Carcinoma ex pleomorphic adenoma, medicine.anatomical_structure, Oncology, Otorhinolaryngology, 030220 oncology & carcinogenesis, Positron-Emission Tomography, Lymph Node Excision, Differential diagnosis, business, Melanoma metastasi
Abstract

The presence of melanin pigment and melanocytic markers expression have been rarely reported in salivary gland tumors. Herein, two cases of carcinoma arising in pleomorphic adenoma of the parotid gland and showing diffuse expression of myoepithelial and melanocytic markers are described. The clinical-pathological clues useful in the differential diagnosis with melanoma are discussed. In addition, a review of the pertinent literature is also proposed, discussing the pathologic mechanisms potentially involved in this phenomenon. Supplementary Information The online version of this article (10.1007/s12105-021-01299-4) contains supplementary material, which is available to authorized users.

Published
2021

18. The EORTC protocol for sentinel lymph node biopsy (SLNB) reveals a high number of nodal nevi and a strong association with nevus-associated melanoma.

Author

Ricci C, Dika E, Lambertini M, Ambrosi F, Chiarucci F, Chillotti S, Fiorentino M, Fabbri E, Tassone D, Veronesi G, Tartari F, and Corti B

Subjects
Humans, Lymph Nodes pathology, Middle Aged, Retrospective Studies, Sentinel Lymph Node Biopsy, Melanoma, Cutaneous Malignant, Melanoma pathology, Nevus diagnosis, Skin Neoplasms pathology
Abstract

Background: The diagnosis of nodal nevi (NN) is challenging as they mimic melanoma metastases (MM), with a detection rate mostly ranging between 1% and 11% in sentinel lymph node biopsy (SLNB). Herein, we assessed the incidence of NN and the association with the clinical-pathological features of primary melanoma, adopting the updated European Organisation for Research and Treatment of Cancer (EORTC) protocol for SLNB., Methods: All cases of paired melanoma and SLNB were retrospectively evaluated (April 2019-May 2020). Appropriate statistical tests were adopted, with significant variables included in the logistic regression model., Results: 81 patients and a total of 186 lymph nodes (LNs) were included. Eleven patients had only NN and 4 had both NN and MM (18.5%); 29 LNs (15.6%) showed at least one NN and 12 (6.5%) showed more than one NN (a total amount of 43 NN was detected). All NN and none MM stained for p16. NN were associated with age < 60 years (p: 0.042), no ulceration (p: 0.025) and nevus-associated melanoma (NAM) (p: 0.018), with this latter being the only predictor at the logistic regression model (p: 0.022)., Conclusions: The updated EORTC protocol shows a high number of NN and highlights a strong association with NAM., (Copyright © 2022 Elsevier GmbH. All rights reserved.)

Published
2022
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