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      Generalized Lymphatic Anomaly as a Differential Diagnosis of Lytic Lesions

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          Abstract

          Generalized lymphatic anomaly (GLA) is an infrequent multiorgan disease characterized by the presence of abnormal proliferation of lymphatic vessels. The diagnosis requires histological confirmation, and the treatment is controversial. We are presenting a case of a 28-year-old male patient who was diagnosed with an extragonadal mediastinal nonseminomatous germ cell tumor. He underwent chemotherapy, and during this treatment, radiologic findings evidenced lytic lesions. Multiple biopsies were performed, which revealed the presence of abnormal lymphatic vessels, characteristic of GLA. There are different etiologies of osteolytic lesions, and on some occasions, they mimic a tumoral entity. The clinical suspicion of GLA is the first step in approaching the diagnosis, particularly in young adult patients.

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          Most cited references14

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          Efficacy and Safety of Sirolimus in the Treatment of Complicated Vascular Anomalies.

          Complicated vascular anomalies have limited therapeutic options and cause significant morbidity and mortality. This Phase II trial enrolled patients with complicated vascular anomalies to determine the efficacy and safety of treatment with sirolimus for 12 courses; each course was defined as 28 days.
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            mTOR-targeted therapy of cancer with rapamycin derivatives.

            Rapamycin and its derivatives (CCI-779, RAD001 and AP23576) are immunosuppressor macrolides that block mTOR (mammalian target of rapamycin) functions and yield antiproliferative activity in a variety of malignancies. Molecular characterization of upstream and downstream mTOR signaling pathways is thought to allow a better selection of rapamycin-sensitive tumours. For instance, a loss of PTEN functions results in Akt phosphorylation, cell growth and proliferation; circumstances that can be blocked using rapamycin derivatives. From recent studies, rapamycin derivatives appear to display a safe toxicity profile with skin rashes and mucositis being prominent and dose-limiting. Sporadic activity with no evidence of dose-effect relationship has been reported. Evidence suggests that rapamycin derivatives could induce G1-S cell cycle delay and eventually apoptosis depending on inner cellular characteristics of tumour cells. Surrogate molecular markers that could be used to monitor biological effects of rapamycin derivatives and narrow down biologically active doses in patients, such as the phosphorylation of P70S6K or expression of cyclin D1 and caspase 3, are currently evaluated. Since apoptosis induced by rapamycin is blocked by BCL-2, strategies aimed at detecting human tumours that express BCL-2 and other anti-apoptotic proteins might allow identification of rapamycin-resistant tumours. Finally, we discuss current and future placements of rapamycin derivatives and related translational research into novel therapeutic strategies against cancer.
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              Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease.

              Complex lymphatic anomalies are intractable lymphatic disorders, including generalized lymphatic anomaly (GLA), Gorham-Stout disease (GSD), and kaposiform lymphangiomatosis (KLA). The etiology of these diseases remains unknown and diagnosis is confused by their similar clinical findings. This study aimed to clarify the differences in clinical features and prognosis among GLA, KLA, and GSD, in Japanese patients.
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                Author and article information

                Journal
                Case Rep Oncol
                Case Rep Oncol
                CRO
                CRO
                Case Reports in Oncology
                S. Karger AG (Basel, Switzerland )
                1662-6575
                9 August 2023
                Jan-Dec 2023
                9 August 2023
                : 16
                : 1
                : 597-603
                Affiliations
                [a ]Departament of Oncology, Alexander Fleming Institute, Buenos Aires, Argentina
                [b ]Department of Pediatric Pathology, Hospital Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina
                [c ]Department of Pediatric Pathology, Hospital Infantil Universitario Nino Jesús, Madrid, Spain
                [d ]Department of Oncology Pathology, Alexander Fleming Institute, Buenos Aires, Argentina
                [e ]Department of Radiology, Alexander Fleming Institute, Buenos Aires, Argentina
                Author notes
                Correspondence to: Greta Catani, gcatani91@ 123456gmail.com
                Article
                530897
                10.1159/000530897
                10601723
                37900803
                910da4c2-8318-47cc-a37e-064d57283887
                © 2023 The Author(s). Published by S. Karger AG, Basel

                This article is licensed under the Creative Commons Attribution-NonCommercial 4.0 International License (CC BY-NC) ( http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission.

                History
                : 2 November 2022
                : 11 April 2023
                : 2023
                Page count
                Figures: 3, References: 15, Pages: 7
                Funding
                The authors have not received any funding for the study.
                Categories
                Case Report

                Oncology & Radiotherapy
                generalized lymphatic anomaly,lymphatic malformations,lytic lesion
                Oncology & Radiotherapy
                generalized lymphatic anomaly, lymphatic malformations, lytic lesion

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