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      Metastases from Occult Breast Cancer: A Case Report of Carcinoma of Unknown Primary Syndrome

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          Abstract

          Carcinoma of unknown primary (CUP) syndrome occurs when metastases from an unknown primary site spread to multiple organs. Occult breast cancer (OBC) is defined as a clinically recognizable metastatic carcinoma from an undetectable primary breast tumor. It accounts for 0.3–1% of all breast cancers, often presenting with lymph node, bone, and skin metastases. Clinical and radiological examinations represent the first steps in the diagnostic algorithm for CUP syndrome from OBC. However, histological and immunohistochemical analyses, multidisciplinary team evaluation, and a multidisciplinary therapy are essential in the diagnosis and treatment of CUP syndrome from OBC. We report the case of a 52-year-old woman who underwent the removal of a parietal skin lesion. The histological and immunohistochemical analyses suggested a breast cancer origin. Clinical assessment and laboratory and radiological examinations did not locate the primary tumor. Hormone therapy was offered to the patient; however, she refused it. After 28 months, the patient reported a right cervical lump, and a total-body positron emission tomography showed dissemination of the disease to the lymph nodes and bone. A CUP syndrome from OBC was diagnosed. A multimodality approach with radiotherapy and hormone and biological therapy was started. At present, 5 years from the first presentation, the patient is asymptomatic despite the disseminated disease.

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          Most cited references27

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          Cancers of unknown primary site: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up.

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            Combined FDG-PET/CT for the detection of unknown primary tumors: systematic review and meta-analysis

            The aim of this study was to systematically review and meta-analyze published data on the diagnostic performance of combined 18F-fluoro-2-deoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) in the detection of primary tumors in patients with cancer of unknown primary (CUP). A systematic search for relevant studies was performed of the PubMed/MEDLINE and Embase databases. Methodological quality of the included studies was assessed. Reported detection rates, sensitivities and specificities were meta-analyzed. Subgroup analyses were performed if results of individual studies were heterogeneous. The 11 included studies, comprising a total sample size of 433 patients with CUP, had moderate methodological quality. Overall primary tumor detection rate, pooled sensitivity and specificity of FDG-PET/CT were 37%, 84% (95% CI 78–88%) and 84% (95% CI 78–89%), respectively. Sensitivity was heterogeneous across studies (P = 0.0001), whereas specificity was homogeneous across studies (P = 0.2114). Completeness of diagnostic workup before FDG-PET/CT, location of metastases of unknown primary, administration of CT contrast agents, type of FDG-PET/CT images evaluated and way of FDG-PET/CT review did not significantly influence diagnostic performance. In conclusion, FDG-PET/CT can be a useful method for unknown primary tumor detection. Future studies are required to prove the assumed advantage of FDG-PET/CT over FDG-PET alone and to further explore causes of heterogeneity.
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              Cancers of unknown primary origin: current perspectives and future therapeutic strategies

              It is widely accepted that systemic neoplastic spread is a late event in tumour progression. However, sometimes, rapidly invasive cancers are diagnosed because of appearance of metastatic lesions in absence of a clearly detectable primary mass. This kind of disease is referred to as cancer of unknown primary (CUP) origin and accounts for 3-5% of all cancer diagnosis. There is poor consensus on the extent of diagnostic and pathologic evaluations required for these enigmatic cases which still lack effective treatment. Although technology to predict the primary tumour site of origin is improving rapidly, the key issue is concerning the biology which drives early occult metastatic spreading. This review provides the state of the art about clinical and therapeutic management of this malignant syndrome; main interest is addressed to the most recent improvements in CUP molecular biology and pathology, which will lead to successful tailored therapeutic options.
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                Author and article information

                Journal
                CRO
                CRO
                10.1159/issn.1662-6575
                Case Reports in Ophthalmology
                S. Karger AG
                1662-6575
                2020
                September - December 2020
                28 September 2020
                : 13
                : 3
                : 1158-1163
                Affiliations
                [_a] aBreast Unit, Humanitas Clinical and Research Center – IRCCS, Milan, Italy
                [_b] bDepartment of Biomedical Sciences, Humanitas University, Milan, Italy
                Author notes
                *Damiano Gentile, Breast Unit, Humanitas Clinical and Research Center – IRCCS, Via Manzoni 56, IT–20089 Rozzano, Milan (Italy), damiano.gentile@humanitas.it
                Author information
                https://orcid.org/0000-0002-8861-5223
                Article
                510001 PMC7590765 Case Rep Oncol 2020;13:1158–1163
                10.1159/000510001
                PMC7590765
                33173479
                32e8830a-8185-4e7f-856e-22e906e6010a
                © 2020 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). Usage and distribution for commercial purposes requires written permission. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                History
                : 30 June 2020
                : 05 July 2020
                Page count
                Figures: 2, Pages: 6
                Categories
                Case Report

                Vision sciences,Ophthalmology & Optometry,Pathology
                Metastatic breast cancer,Carcinoma of unknown primary,Occult breast cancer

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