Abstract
AB059. The antero-superior mediastinum as unique metastatic site of primary unknown desmoplastic melanoma: a case report
Bianca Arianna Facchini1, Erica Pietroluongo2, Francesca Sparano1, Angelo Luciano2, Marco Ferrari3, Marianna Tortora2, Lucia Festino1, Claudia Trojaniello1, Vito Vanella1, Maria Grazia Vitale1, Domenico Mallardo1, Miriam Paone1, Mario Giuliano2, Alberto Servetto2, Ester Simeone1, Gerardo Ferrara4, Giovannella Palmieri5, Paolo Antonio Ascierto1, Margaret Ottaviano1
1Unit of Melanoma, Cancer Immunotherapy and Development Therapeutics, Istituto Nazionale Tumori IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Fondazione G. Pascale, Naples, Italy;
2Department of Clinical Medicine and Surgery, University of Naples Federico II, Naples, Italy;
3Azienda Ospedaliero Universitaria Pisana, Medical Oncology Unit, Pisa, Italy;
4Histopathology Unit, Istituto Nazionale Tumori IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Fondazione G. Pascale, Naples, Italy;
5Regional Coordinating Center for Rare Tumors (CRCTR) of Campania Region at University Federico II, Naples, Italy
Correspondence to: Margaret Ottaviano, MD, PhD. Unit of Melanoma, Cancer Immunotherapy and Development Therapeutics, Istituto Nazionale Tumori IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Fondazione G. Pascale, Via Mariano Semmola, Naples 80131, Italy. Email: Margaret.ottaviano@istitutotumori.na.it.
Background: Desmoplastic melanoma (DM) is a rare subtype of melanoma accounting for 1% to 4% of all melanoma new diagnosis worldwide. Due to the unconventional histologic features (spindled melanocytes in an abundant desmoplastic stroma), differential diagnosis with other tumours such as sarcomas and malignant peripheral nerve sheath tumour can be challenging. The mediastinum is an uncommon site of metastatic disease in DM, especially in case of unknown primary.
Case Description: The patient, a 58-year-old man, firstly came to our attention in October 2023 bullnecked and with jugular turgidity, manifesting a clear mediastinal syndrome. Besides being a strong smoker, the patient received a previous diagnosis of lip dermatofibroma with monster cells in 2014 and a cutaneous squamous cell carcinoma of the right cheek in 2016, both treated with radical surgeries and no signs of local recurrence. The baseline enhanced computed tomography (CT) scan showed a solitary expansive mass of the upper right mediastinum of 88 mm × 60 mm, infiltrating superior vena cava and obliterating the main bronchus of the right upper lobe. The subsequent thoracoscopic biopsy reported a final histological diagnosis of malignant neoplasia with ambiguous immune phenotype (SOX10+, SOX 100−/+, CD34−, desmin−, pan cytokeratin−, cytokeratin 8/18−, GATA3−, HMB45−; MART1−, SALL4−), indicating a neuroectodermic malignant neoplasia compatible with DM, with intense expression of programmed death-ligand 1 (PD-L1) (>90%). The molecular analysis revealed a pathogenic missense mutation of exon 38 of NF1 gene. After diagnosis, the patient was immediately treated with radiotherapy on the mediastinal mass (20 Gy in 4 fractions, 500 cGy/die) to revert the life-threatening mediastinal syndrome. Moreover, taking into account the high PD-L1 expression and the lack of clear guidelines for the medical management of the rare entity of metastatic DM, a systemic therapy with anti-PD-1 drug was delivered. After 6 cycles of anti-PD-1, the CT scan showed a brilliant response disease (30 mm × 29 mm vs. 88 mm × 60 mm). The patient is still on treatment with no significant adverse events.
Conclusions: High expertise, multidisciplinary approach and informative biomarkers are the best way for successfully treating rare and histological complex mediastinal mass.
Keywords: Mediastinal mass; desmoplastic melanoma (DM); anti-programmed cell death 1 (anti-PD-1); case report
Acknowledgments
Funding: None.
Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://med.amegroups.com/article/view/10.21037/med-24-ab059/coif). M.G. reports payment or honoraria from Lilly, Celgene, Novartis, Pfizer, and support for attending meeting or travel from Lilly, Celgene, Novartis, Pfizer, Istituto Gentili, Eisai Europe Ltd., Roche. A.S. reports payment or honoraria from Lilly, Gilead, MSD, Roche, Novartis, MSD, Janssen, AstraZeneca, support for attending meeting or travel from Bristol-Myers Squibb, AstraZeneca, Janssen, and Daiichi Sankyo, and participation on Data Safety Monitoring Boards for MSD and Novartis. E.S. reports financial support from BMS, MSD. P.A.A. reports consulting fees from Bristol-Meyers Squibb, Roche-Genentech, Merck Sharp & Dohme, Novartis, Merck Serono, Pierre-Fabre, AstraZeneca, Sun Pharma, Sanofi, Sandoz, Immunocore, Italfarmaco, Nektar, Boehringer-Ingelheim, Eisai, Regeneron, Daiichi Sankyo, Pfizer, OncoSec, Nouscom, Lunaphore, Seagen, iTeos, Medicenna, Bio-Al Health, ValoTx, Replimmune, Bayer, Erasca, Philogen, Biontech, Anaveon, and support for attending meeting or travel from Pfizer, Bio-Al Health, Replimmune, MSD, Pierre Fabre. P.A.A. also serves as President of Fondazione Melanoma Onlus, Napoli, Italy, President of Campania Society of Immuno Therapy of Cancer (SCITO), Italy, member of Steering Committee of Society of Melanoma Research (SMR) and member of Board of Directors for the Society of Immuno-Therapy of Cancer (SITC). M.O. reports payment or honoraria from MSD, Regeneron, BMS, Novartis, and support for attending meeting or travel from Novartis, MSD, Pierre Fabre, Sun Pharma. The other authors have no conflicts of interest to declare.
Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient for the publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.
Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.
doi: 10.21037/med-24-ab059
Cite this abstract as: Facchini BA, Pietroluongo E, Sparano F, Luciano A, Ferrari M, Tortora M, Festino L, Trojaniello C, Vanella V, Vitale MG, Mallardo D, Paone M, Giuliano M, Servetto A, Simeone E, Ferrara G, Palmieri G, Ascierto PA, Ottaviano M. AB059. The antero-superior mediastinum as unique metastatic site of primary unknown desmoplastic melanoma: a case report. Mediastinum 2024;8:AB059.
