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      Alveolar soft part sarcoma of the tongue. A case report of a rare entity Translated title: Sarcoma alveolar de partes blandas de la lengua. Informe de un caso de una entidad rara

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          Abstract

          ABSTRACT Alveolar soft part sarcoma (ASPS) is a distinct soft tissue sarcoma among adolescent and young individuals. It accounts for 1 % of all sarcomas. It is a rare malignancy of the mesenchymal tissue that possesses an uncertain histologic origin. The increased vascular nature of this lesion leads to the dissemination of tumour cells through the connective tissue along the haematogenous route. Here we present a case of a swelling involving the tongue of a 19-year-old male patient and emphasize on the importance of diagnostic aids and management of this rare and unique lesion.

          Translated abstract

          RESUMEN El sarcoma alveolar de partes blandas (ASPS, por sus siglas en inglés) es un sarcoma de partes blandas distinto entre los adolescentes y los jóvenes. Representa el 1 % de todos los sarcomas. Es una rara neoplasia maligna del tejido mesenquimatoso que posee un origen histológico incierto. El aumento de la vascularización de esta lesión conduce a la diseminación de células tumorales a través del tejido conjuntivo por vía hematógena. Aquí presentamos un caso de tumefacción en la lengua de un paciente masculino de 19 años y enfatizamos la importancia de las ayudas diagnósticas y el manejo de esta rara y única lesión.

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          Most cited references10

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          The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25.

          Alveolar soft part sarcoma (ASPS) is an unusual tumor with highly characteristic histopathology and ultrastructure, controversial histogenesis, and enigmatic clinical behavior. Recent cytogenetic studies have identified a recurrent der(17) due to a non-reciprocal t(X;17)(p11.2;q25) in this sarcoma. To define the interval containing the Xp11.2 break, we first performed FISH on ASPS cases using YAC probes for OATL1 (Xp11.23) and OATL2 (Xp11.21), and cosmid probes from the intervening genomic region. This localized the breakpoint to a 160 kb interval. The prime candidate within this previously fully sequenced region was TFE3, a transcription factor gene known to be fused to translocation partners on 1 and X in some papillary renal cell carcinomas. Southern blotting using a TFE3 genomic probe identified non-germline bands in several ASPS cases, consistent with rearrangement and possible fusion of TFE3 with a gene on 17q25. Amplification of the 5' portion of cDNAs containing the 3' portion of TFE3 in two different ASPS cases identified a novel sequence, designated ASPL, fused in-frame to TFE3 exon 4 (type 1 fusion) or exon 3 (type 2 fusion). Reverse transcriptase PCR using a forward primer from ASPL and a TFE3 exon 4 reverse primer detected an ASPL-TFE3 fusion transcript in all ASPS cases (12/12: 9 type 1, 3 type 2), establishing the utility of this assay in the diagnosis of ASPS. Using appropriate primers, the reciprocal fusion transcript, TFE3-ASPL, was detected in only one of 12 cases, consistent with the non-reciprocal nature of the translocation in most cases, and supporting ASPL-TFE3 as its oncogenically significant fusion product. ASPL maps to chromosome 17, is ubiquitously expressed, and matches numerous ESTs (Unigene cluster Hs.84128) but no named genes. The ASPL cDNA open reading frame encodes a predicted protein of 476 amino acids that contains within its carboxy-terminal portion of a UBX-like domain that shows significant similarity to predicted proteins of unknown function in several model organisms. The ASPL-TFE3 fusion replaces the N-terminal portion of TFE3 by the fused ASPL sequences, while retaining the TFE3 DNA-binding domain, implicating transcriptional deregulation in the pathogenesis of this tumor, consistent with the biology of several other translocation-associated sarcomas. Oncogene (2001) 20, 48 - 57.
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            Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay.

            We report the aberrantly strong nuclear immunoreactivity for the C-terminal portion of TFE3 protein in tumors characterized by chromosome translocations involving the TFE3 gene at Xp11.2. This group of tumors includes alveolar soft part sarcoma and a specific subset of renal carcinomas that tend to affect young patients. They contain fusion genes that encode chimeric proteins consisting of the N-terminal portion of different translocation partners fused to the C-terminal portion of TFE3. We postulated that expression of these fusion proteins may be dysregulated in these specific tumors and detectable by immunohistochemistry. We performed immunohistochemistry using a polyclonal antibody to the C-terminal portion of TFE3 in 40 formalin-fixed, paraffin-embedded tumors characterized by TFE3 gene fusions, including 19 alveolar soft part sarcoma (of which nine were molecularly confirmed) and 21 renal carcinomas with cytogenetically confirmed characteristic Xp11.2 translocations and/or fusion transcripts involving TFE3 (11 PRCC-TFE3, 7 ASPL-TFE3, 3 PSF-TFE3). We also screened 1476 other tumors of 64 histologic types from 16 sites for TFE3 immunoreactivity using tissue microarrays and evaluated a broad range of normal tissues. Thirty-nine of 40 neoplasms characterized by TFE3 gene fusions (19 of 19 alveolar soft part sarcoma, 20 of 21 renal carcinomas) demonstrated moderate or strong nuclear TFE3 immunoreactivity. In contrast, only 6 of 1476 other neoplasms labeled for TFE3 (sensitivity 97.5%, specificity 99.6%). Nuclear immunoreactivity in normal tissues was extremely rare. We then applied this assay to a set of 11 pediatric renal carcinomas for which only paraffin-embedded tissue was available, to assess if morphologic features could predict TFE3 immunoreactivity. Of the eight cases in which we suspected that a TFE3 gene rearrangement might be present based on morphology, seven scored positive for nuclear TFE3 labeling. Of the three tumors whose morphology did not suggest the presence of a TFE3 gene fusion, none showed nuclear TFE3 labeling. In summary, we find that nuclear immunoreactivity for TFE3 protein by routine immunohistochemistry is a highly sensitive and specific assay for neoplasms bearing TFE3 gene fusions. Furthermore, the finding in our set of test cases (i.e., that morphologic features can be used to predict TFE3 immunoreactivity) further supports the notion that renal carcinomas with TFE3 gene fusions have a distinctive morphology that corresponds to their genetic distinctiveness. Carcinomas associated with TFE3 gene fusions may account for a significant proportion of pediatric renal carcinomas, and this immunohistochemistry assay may help to clarify their true prevalence.
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              Alveolar soft-part sarcoma. A clinico-pathologic study of half a century.

              In the period from 1923 to 1986 our pathologists examined pathologic material from 102 patients with alveolar soft-part sarcoma (ASPS). Followup clinical data is available for 91. Median followup is 7 years (range 1 month to 27 years). Local recurrence was only found if residual disease was left at the time of the original excision. Survival in those patients who presented without metastases was 77% at 2 years, 60% at 5 years, 38% at 10 years and 15% at 20 years (median 6 years). No survival advantage could be demonstrated for patients who received chemo and/or radiotherapy, although numbers are small and staging not uniform. An evaluation by electron microscopy and immunohistochemistry cannot confirm recent claims that ASPS is a muscle tumor. ASPS is an unusual neoplasm; the primary therapeutic option is aggressive surgical excision. Survival even with the development of metastases can be long.
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                Author and article information

                Journal
                maxi
                Revista Española de Cirugía Oral y Maxilofacial
                Rev Esp Cirug Oral y Maxilofac
                Sociedad Española de Cirugía Oral y Maxilofacial y de Cabeza y Cuello (Madrid, Madrid, Spain )
                1130-0558
                2173-9161
                June 2022
                : 44
                : 2
                : 79-82
                Affiliations
                [2] Chennai orgnameApollo Cancer Institute orgdiv1General Pathology India
                [1] Chennai orgnameRajan Oral Cancer Centre orgdiv1Oral and Maxillofacial Surgery India
                [3] Chennai orgnameApollo Cancer Institute orgdiv1Oral and Maxillofacial Surgery India
                Article
                S1130-05582022000200079 S1130-0558(22)04400200079
                10.20986/recom.2022.1348/2022
                d9e649de-58b6-4ca8-a794-fc96d1121d36

                This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

                History
                : 14 March 2022
                : 31 May 2022
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 10, Pages: 4
                Product

                SciELO Spain

                Categories
                Case Reports

                malignidad,cavidad oral,lengua,tumor de partes blandas,Sarcoma alveolar de partes blandas,soft tissue tumour,tongue,oral cavity,malignancy,Alveolar soft part sarcoma

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