RESUMO
The wide application of increasingly advanced molecular studies in routine clinical practice has allowed a detailed, albeit still incomplete, genetic subclassification of undifferentiated round cell sarcomas. The WHO classification continues to include provisional molecular entities, whose clinicopathologic features are in the early stages of evolution. This review focuses on the clinicopathologic, molecular, and prognostic features of undifferentiated round cell sarcomas with EWSR1/FUS::NFATC2 or EWSR1::PATZ1 fusions. Classic histopathologic findings, uncommon variations, and diagnostic pitfalls are addressed, along with the utility of recently developed immunohistochemical and molecular markers.
Assuntos
Sarcoma , Humanos , Sarcoma/diagnóstico , Sarcoma/genética , Sarcoma/patologia , Fatores de Transcrição , Prognóstico , Biomarcadores Tumorais/genética , Proteínas Repressoras/genética , Fatores de Transcrição Kruppel-Like/genética , Fatores de Transcrição NFATC/genética , Proteína EWS de Ligação a RNA/genéticaRESUMO
Presentamos un caso de linfoma anaplásico de células grandes asociado a implante mamario (LACG-AIM) que debutó como seroma periprotésico unilateral izquierdo de características acelulares en su estudio inicial. Esto limitó la determinación inmunohistoquímica de marcadores CD30 y cinasa del linfoma anaplásico (ALK) y su diagnóstico preoperatorio. La paciente fue intervenida quirúrgicamente realizándose retirada del implante y capsulectomía completa bilateral. El estudio anatomopatológico de la cápsula periprotésica izquierda mostró un linfoma anaplásico de células grandes. Dado que algunos casos de LACG-AIM pueden presentarse sin celularidad en el seroma periprotésico, limitando la efectividad de las determinaciones inmunohistoquímicas preoperatorias, en casos de alta sospecha clínica cabría plantearse un tratamiento quirúrgico de forma precoz que iniciase el tratamiento oncológico sin demora y aportase un diagnóstico definitivo
We present a case of breast implant associated anaplastic large cell lymphoma (BIA-ALCL) that debuted as a left unilateral periprosthetic seroma of acellular features in its initial study. This aspect limited the immunohistochemical determination of CD30 markers and anaplastic lymphoma kinase (ALK) and its preoperative diagnosis. Patient was operated performing implant removal and bilateral complete capsulectomy. The pathological study of the left periprosthetic capsule showed an anaplastic large cell lymphoma. Since some cases of BIA-ALCL can occur without cellularity in the periprosthetic seroma, limiting the effectiveness of preoperative immunohistochemical determinations, in cases of high clinical suspicion an early surgical treatment could be considered in order to begin the oncological treatment without delay and providing a definitive diagnosis
Assuntos
Humanos , Feminino , Adulto , Linfoma Anaplásico de Células Grandes/diagnóstico , Linfoma Anaplásico de Células Grandes/patologia , Implantes de Mama/efeitos adversos , Imuno-Histoquímica , Liberação de Cirurgia/métodos , Seroma/cirurgia , Seroma/diagnóstico por imagem , Seroma/patologia , Diagnóstico Diferencial , Neoplasias da Mama/diagnóstico por imagem , Ultrassonografia Mamária , Biópsia com Agulha de Grande Calibre/instrumentação , Implante Mamário/instrumentaçãoRESUMO
Tumor formation involves the acquisition of numerous capacities along the progression from a normal cell into a malignant cell, including limitless proliferation (immortalization) and anchorage-independent growth, a capacity that correlates extremely well with tumorigenesis. Great efforts have been made to uncover genes involved in tumor formation, but most genes identified participate in processes related to cell proliferation. Accordingly, therapies targeting these genes also affect the proliferation of normal cells. To identify potential targets for therapeutic intervention more specific to tumor cells, we looked for genes implicated in the acquisition of anchorage-independent growth and in vivo tumorigenesis capacity. A transcriptomic analysis identified CDCA7 as a candidate gene. Indeed, CDCA7 protein was upregulated in Burkitt's lymphoma cell lines and human tumor biopsy specimens relative to control cell lines and tissues, respectively. CDCA7 levels were also markedly elevated in numerous T and B-lymphoid tumor cell lines. While CDCA7 was not required for anchorage-dependent growth of normal fibroblasts or non-malignant lymphocytes, it was essential but not sufficient for anchorage-independent growth of lymphoid tumor cells and for lymphomagenesis. These data suggest that therapies aimed at inhibiting CDCA7 expression or function might significantly decrease the growth of lymphoid tumors.
