RESUMO
ALK-positive anaplastic large cell lymphoma is a rare T-cell lymphoma with ALK gene rearrangement that develops in children and young adults. The disease almost always affects the lymph nodes, and extranodal areas are also frequently involved. This article describes two cases of atypical localization of ALK-positive anaplastic large cell lymphoma with involvement of the paranasal sinuses.
Assuntos
Quinase do Linfoma Anaplásico , Linfoma Anaplásico de Células Grandes , Humanos , Linfoma Anaplásico de Células Grandes/genética , Linfoma Anaplásico de Células Grandes/patologia , Linfoma Anaplásico de Células Grandes/diagnóstico , Quinase do Linfoma Anaplásico/genética , Masculino , Feminino , Adulto , Neoplasias dos Seios Paranasais/patologia , Neoplasias dos Seios Paranasais/genética , Neoplasias dos Seios Paranasais/metabolismo , Neoplasias dos Seios Paranasais/diagnóstico , Rearranjo GênicoRESUMO
BACKGROUND: The group of undifferentiated round cell sarcomas, according to the World Health Organization Classification, in addition to Ewing's sarcoma (ES), includes round cell sarcoma with rearrangement of the EWSR1 gene with partners not from the ETS gene family, sarcoma with BCOR gene alterations, CIC -rearranged sarcoma. Despite the fact that all tumors have clear histological and immunological criteria, their diagnosis can be difficult, given the fact that there are overlapping variants of the morphological picture and immunophenotype both within the group and with other round cell tumors. OBJECTIVE: Present a comparative analysis of genetically verified ES, sarcoma with BCOR gene alterations and CIC-rearranged sarcoma. MATERIAL AND METHODS: A comparative study of biopsy specimens of bones, soft tissues and internal organs was carried out in 118 patients with ES, 10 with BCOR gene alterations and 8 with CIC-rearranged sarcomas. All cases were genetically verified. The following research methods were used: histological, immunohistochemical, RT-PCR, RNA sequencing and FISH. RESULTS: Within our cohort, it was shown that ES predominantly affects bones, while soft tissue localization is more typical for the other two undifferentiated round cell sarcomas. Histologically, in the overwhelming majority of cases, ES is characterized by a monomorphic round-cell structure; on the contrary, heterogeneous structure is typical for sarcoma with alterations of the BCOR gene, CIC-rearranged sarcoma. High sensitivity and specificity of CD99/NKX2.2 co-expression for ES, BCOR/SATB2/TLE1 for sarcoma with BCOR gene alterations, high specificity and low sensitivity of WT1/ETV4 co-expression for CIC-rearranged sarcoma was shown. CONCLUSION: For the differential diagnosis of undifferentiated round-cell sarcomas, it is necessary to take into account the clinical, morphology when compared with the data of the IHC study, and verification by molecular genetic methods is necessary to improve the accuracy of diagnosis.
Assuntos
Sarcoma de Ewing , Sarcoma de Células Pequenas , Sarcoma , Neoplasias de Tecidos Moles , Humanos , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/genética , Sarcoma de Ewing/patologia , Sarcoma/genética , Sarcoma de Células Pequenas/diagnóstico , Sarcoma de Células Pequenas/genética , Sarcoma de Células Pequenas/patologia , Fatores de Transcrição , Neoplasias de Tecidos Moles/genética , Algoritmos , Biomarcadores Tumorais/genética , Proteínas de Fusão Oncogênica/genéticaRESUMO
CIC-rearranged sarcoma is a rare and extremely aggressive tumor that occurs mainly in soft tissues. Despite the fact that identification of a characteristic genetic rearrangement is necessary to verify the diagnosis, in most cases, the correct diagnosis can be made by comparing histological signs and a characteristic immunophenotype, which greatly speeds up the diagnosis. The article describes a case of CIC-rearranged sarcoma in a 14-year girl with the successful application of the CWS-2009 treatment protocol.
Assuntos
Sarcoma de Ewing , Sarcoma de Células Pequenas , Neoplasias de Tecidos Moles , Feminino , Humanos , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/genética , Sarcoma de Ewing/patologia , Biomarcadores Tumorais/genética , Sarcoma de Células Pequenas/diagnóstico , Sarcoma de Células Pequenas/genética , Sarcoma de Células Pequenas/patologia , Rearranjo Gênico , Diagnóstico Diferencial , Proteínas de Fusão Oncogênica/genética , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/genéticaRESUMO
Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor of intermediate malignancy potential, which predominantly affects children and young adults. This paper describes two cases of AFH, as well as a review of literature during 1979 to 2021. It gives data on the epidemiology, clinical features, diagnosis, and genetic characteristics of AFH.
Assuntos
Histiocitoma Fibroso Benigno , Histiocitoma Fibroso Maligno , Neoplasias de Tecidos Moles , Criança , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/genética , Histiocitoma Fibroso Maligno/diagnóstico , Histiocitoma Fibroso Maligno/genética , Humanos , Adulto JovemRESUMO
We present the results of 53 stage I-III nephroblastoma pediatric patients treated in Belarusia from 2005 to 2010. All the patients received adjuvant chemotherapy (according to SIOP WT 2001 protocol), surgery (complete or partial nephrectomy) and neoadjuvant chemotherapy. The prolonged adjuvant chemotherapy was proposed in patients with good response as a cytoreductive measure enabling organ-sparing surgery. Five-year event-free survival was 91+/-6% in complete and 89+/-9% in partial nephrectomy recipients (p=0,64). Our experience suggest the feasibility of prolonged adjuvant chemoradiotherapy in patients with good clinical response and no contraindications for complete nephrectomy.