RESUMEN
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.
Asunto(s)
Sarcoma de Ewing , Sarcoma de Células Pequeñas , Sarcoma , Neoplasias de los Tejidos Blandos , Humanos , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/genética , Sarcoma de Ewing/patología , Sarcoma/genética , Sarcoma de Células Pequeñas/diagnóstico , Sarcoma de Células Pequeñas/genética , Sarcoma de Células Pequeñas/patología , Factores de Transcripción , Neoplasias de los Tejidos Blandos/genética , Algoritmos , Biomarcadores de Tumor/genética , Proteínas de Fusión Oncogénica/genéticaRESUMEN
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.
Asunto(s)
Sarcoma de Ewing , Sarcoma de Células Pequeñas , Neoplasias de los Tejidos Blandos , Femenino , Humanos , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/genética , Sarcoma de Ewing/patología , Biomarcadores de Tumor/genética , Sarcoma de Células Pequeñas/diagnóstico , Sarcoma de Células Pequeñas/genética , Sarcoma de Células Pequeñas/patología , Reordenamiento Génico , Diagnóstico Diferencial , Proteínas de Fusión Oncogénica/genética , Neoplasias de los Tejidos Blandos/diagnóstico , Neoplasias de los Tejidos Blandos/genéticaRESUMEN
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.
Asunto(s)
Histiocitoma Fibroso Benigno , Histiocitoma Fibroso Maligno , Neoplasias de los Tejidos Blandos , Niño , Histiocitoma Fibroso Benigno/diagnóstico , Histiocitoma Fibroso Benigno/genética , Histiocitoma Fibroso Maligno/diagnóstico , Histiocitoma Fibroso Maligno/genética , Humanos , Adulto JovenRESUMEN
Rhabdomyosarcoma (RMS) is a malignant soft tissue tumor originating from primitive mesenchymal cells, which is most common in children. OBJECTIVE: To qualitatively and quantitatively assess the expression of myogenic transcription factors on a large sample, to identify potential phenotypic differences, and to estimate the distribution and frequency of aberrant markers, such as ALK, PAX5, WT1, PCK, CAM5.2, SIX1, and Synaptophysin. MATERIAL AND METHODS: The investigation included 202 tumor tissue samples. Five tissue microarrays were assembled from the obtained material for subsequent histological and immunohistochemical studies. RESULTS: Embryonal RMS (ERMS) was diagnosed in 103 cases; alveolar RMS (ARMS) was detected in 80; spindle-cell/sclerosing RMS (SRMS) was found in 16 cases; epithelioid RMS (EpiRMS) was diagnosed in 2 patients. The expression of Myogenin and MyoD1 was detected in all the examined RMS tissue samples. ARMS was more characterized by staining at 1+ and 2+ intensities; at the same time, more than 50% of ERMS, SRMS, and EpiRMS cases showed staining at 1+ intensity. ALK expression was investigated using the D5F3 and p80 clones. The D5F3 clone displayed a higher staining intensity than the p80 clone (p<0.05). The expression of PAX5 was observed in 13 of 75 ARMS cases. That of WT1 and SIX1 was found in all RMS groups. CONCLUSION: The morphological diagnosis of RMS requires a careful assessment of all of the above factors, especially taking into account the variability in the expression of myogenic transcription factors and the high level of phenotypic aberration.
Asunto(s)
Rabdomiosarcoma , Sarcoma , Neoplasias de los Tejidos Blandos , Biomarcadores de Tumor/genética , Niño , Humanos , Miogenina/genética , Rabdomiosarcoma/genética , Neoplasias de los Tejidos Blandos/genéticaRESUMEN
Secretory carcinoma of the salivary gland is a tumor that was first described less than 10 years ago and that mainly occurs in the parotid salivary gland in the elderly. Analyzing the literature over 8 years since the first description of the tumor identifies the main clinical, morphological, and genetic signs of the diagnosis of secretory carcinoma with a focus on the pediatric population. Four new cases of secretory carcinoma of the salivary glands, which have been diagnosed in children of the youngest age encountered in the literature, are also described.
Asunto(s)
Carcinoma Secretor Análogo al Mamario , Neoplasias de las Glándulas Salivales , Biomarcadores de Tumor , Niño , Humanos , Inmunohistoquímica , Proteínas de Fusión Oncogénica , Glándulas SalivalesRESUMEN
The authors demonstrated dependence of periodic medical examination efficiency on awareness of specialists participating in those examinations. The awareness level is higher in RF territories with Occupational Pathology Centers. That proves expedience of organizing Occupational Pathology Centers in most regions of the country.
Asunto(s)
Computación en Informática Médica/tendencias , Enfermedades Profesionales/prevención & control , Examen Físico/métodos , Humanos , Reproducibilidad de los Resultados , Federación de RusiaRESUMEN
The article deals with objectives faced by occupational medicine during structural reorganization process. The authors analyse and completely assess efficiency of measures on professional training of medical and nonmedical personnel in workers' health care and in occupational medicine, suggest approaches to improve the training.
