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2.
Surg Pathol Clin ; 17(1): 141-151, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38278603

RESUMO

CIC-rearranged sarcoma is a rare type of small round cell sarcoma. The tumors often affect the deep soft tissues of patients in a wide age range. They are highly aggressive, respond poorly to chemotherapy, and have a worse outcome than Ewing sarcoma. CIC-rearranged sarcoma has characteristic and recognizable histology, including lobulated growth, focal myxoid changes, round to epithelioid cells, and minimal variation of nuclear size and shape. Nuclear ETV4 and WT1 expression are useful immunohistochemical findings. CIC fusion can be demonstrated using various methods; however, even next-generation sequencing suffers from imperfect sensitivity, especially for CIC::DUX4.


Assuntos
Sarcoma de Ewing , Sarcoma de Células Pequenas , Sarcoma , Neoplasias de Tecidos Moles , Humanos , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Sarcoma de Células Pequenas/diagnóstico , Sarcoma de Células Pequenas/genética , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/genética , Sarcoma/diagnóstico , Sarcoma/genética , Neoplasias de Tecidos Moles/diagnóstico , Neoplasias de Tecidos Moles/genética
3.
BMC Nephrol ; 24(1): 354, 2023 11 30.
Artigo em Inglês | MEDLINE | ID: mdl-38036973

RESUMO

BACKGROUND: CIC-rearranged sarcomas (CRS) are a group of heterogeneous tumors which mostly occur in the soft tissues of limbs and trunk, and are highly invasive with poor prognosis. Here, we describe a rare case of CRS that occurred in the left kidney with a CIC-LEUTX rearrangement. CASE PRESENTATION: A 45-year-old male was admitted to hospital with a dry cough for more than two months without obvious cause. Physical examination and laboratory tests revealed no notable abnormality. The CT scan demonstrated a mass in the left kidney and multiple nodules in both lungs. The percutaneous core needle biopsy showed similar histomorphology and immunophenotype of small round cell malignant tumors. Genetic test revealed a CIC-LEUTX gene fusion. CONCLUSIONS: We present a rare primary renal CRS with multiple pulmonary metastases, and LEUTX is confirmed as the fusion partner of CIC gene for the first time in a renal case.


Assuntos
Neoplasias Pulmonares , Sarcoma de Células Pequenas , Sarcoma , Masculino , Humanos , Pessoa de Meia-Idade , Proteínas Repressoras/genética , Biomarcadores Tumorais/genética , Sarcoma/complicações , Sarcoma/genética , Sarcoma/patologia , Sarcoma de Células Pequenas/diagnóstico , Sarcoma de Células Pequenas/genética , Sarcoma de Células Pequenas/patologia , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/genética , Rim/patologia , Pulmão , Proteínas de Homeodomínio/genética
4.
Surg Pathol Clin ; 16(4): 765-778, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37863565

RESUMO

Small round cell neoplasms are diagnostically challenging owing to their clinical and pathologic overlap, necessitating use of large immunopanels and molecular analysis. Ewing sarcomas (ES) are the most common, but EWSR1 is translocated in several diverse neoplasms, some with round cell morphology. Molecular advances enable classification of many tumors previously termed 'atypical ES'. The current WHO Classification includes two new undifferentiated round cell sarcomas (with CIC or BCOR alterations), and a group of sarcomas in which EWSR1 partners with non-Ewing family transcription factor genes. This article reviews the spectrum of small round cell sarcomas within the gastrointestinal tract and abdomen.


Assuntos
Sarcoma de Ewing , Sarcoma de Células Pequenas , Sarcoma , Neoplasias de Tecidos Moles , Humanos , Sarcoma/genética , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/genética , Sarcoma de Ewing/patologia , Sarcoma de Células Pequenas/diagnóstico , Sarcoma de Células Pequenas/genética , Sarcoma de Células Pequenas/patologia , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/análise , Abdome/patologia , Trato Gastrointestinal/patologia
5.
Arkh Patol ; 85(5): 13-21, 2023.
Artigo em Russo | MEDLINE | ID: mdl-37814845

RESUMO

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/genética
7.
Arkh Patol ; 85(3): 64-70, 2023.
Artigo em Russo | MEDLINE | ID: mdl-37272442

RESUMO

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/genética
8.
Ann Diagn Pathol ; 65: 152153, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37167753

RESUMO

According to the recent World Health Organization (WHO) classification, CIC-rearranged sarcomas, including CIC::DUX4-positive sarcomas constitute an aggressive subtype of undifferentiated round cell sarcomas. There is a single study on these tumors from our subcontinent. We present clinicopathological features of 5 additional cases of this tumor entity, including literature review. Thirty-nine undifferentiated round cell sarcomas, excluding Ewing sarcomas (ES), were tested for CIC::DUX4 fusion, including Type I (165 base pair size) and II (230 bp) by reverse transcription-polymerase chain reaction. Twenty-five of those tumors were tested for EWSR1 gene rearrangement, 5 for SS18 and 4 for SS18::SSX fusion, and were negative for those tests. Five tumors (12.8 %) were positive for CIC::DUX4(Type II) fusion. Five CIC:: DUX4-positive sarcomas occurred in 4 males and one female; of 25-43 years of age, in soft tissues, including thigh (n = 2), chest wall (n = 1), iliac region (n = 1) and foot (n = 1). Tumor size varied from 2.2 to 19 cm. Microscopically, the tumors were predominantly composed of nodules and sheets of malignant round to epithelioid cells, including "rhabdoid-like" (n = 2) and spindle-shaped (n = 2) with eosinophilic to vacuolated cytoplasm (4/5), distinct nucleoli (4/5), brisk mitoses, focal myxoid to hyalinised stroma (4/5) and necrosis (5/5). Immunohistochemically, tumor cells were positive for WT1 (5/5), calretinin (3/4), pan-keratin (1/4), CD99/MIC2 ("dot-like" to cytoplasmic membranous) (4/4), while negative for desmin (0/4), S100P (0/4), and NKX2.2 (0/5). INI1/SMARCB1 was retained (3/3). All patients underwent excision with adjuvant radiotherapy and chemotherapy (Ewing sarcoma regimen). A single patient developed recurrence, and 2 developed pulmonary metastasis, including one with brain metastasis. CIC:: DUX4-positive sarcomas are ultra-rare tumors, that mainly occur in the soft tissues and in young adult patients. Histopathologically, these tumors display a wide spectrum, including round to epithelioid cells, variable amount of cytoplasmic vacuolization and myxoid stroma with necrosis. Immunohistochemically, these tumors express WT1 and calretinin. Despite adjuvant therapies, these tumors have dismal outcomes, especially in large-sized tumors. CIC::DUX4-positive sarcomas need to be differentiated from their histopathological mimics, including ES, in view of significant treatment-related implications.


Assuntos
Neoplasias Ósseas , Sarcoma de Ewing , Sarcoma de Células Pequenas , Sarcoma , Neoplasias de Tecidos Moles , Feminino , Humanos , Masculino , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/análise , Neoplasias Ósseas/patologia , Calbindina 2 , Proteínas de Fusão Oncogênica/genética , Proteínas de Fusão Oncogênica/metabolismo , Sarcoma/patologia , Sarcoma de Ewing/genética , Sarcoma de Ewing/patologia , Sarcoma de Células Pequenas/genética , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Adulto
9.
Pathologica ; 115(2): 97-100, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37114626

RESUMO

CIC-rearranged sarcomas are rare mesenchymal neoplasms belonging to the family of undifferentiated small round cell sarcomas. This report details the case of a 45-year-old man presenting with symptoms of mediastinal compression, radiological diagnosis of a mediastinal mass and rapid evolution to full-blown superior vena cava syndrome. The emergency was successfully managed with a pharmacological approach. Formulation of a pathological diagnosis of CIC-rearranged sarcoma was initially supported by fluorescence in situ hybridisation findings and later validated by next-generation sequencing, which showed CIC-DUX4 gene fusion. A chemotherapy regimen was started with immediate benefits for the patient. The spectrum of pathological entities able to cause superior vena cava syndrome is wide, and recognition of rare causes is important to tailor the therapeutic approach to the specific disease. This is, to the best of our knowledge, the first report of CIC-rearranged sarcoma presenting with superior vena cava syndrome.


Assuntos
Sarcoma de Células Pequenas , Sarcoma , Síndrome da Veia Cava Superior , Humanos , Masculino , Pessoa de Meia-Idade , Biomarcadores Tumorais/genética , Proteínas de Fusão Oncogênica/genética , Sarcoma/complicações , Sarcoma/diagnóstico , Sarcoma/genética , Sarcoma de Células Pequenas/diagnóstico , Sarcoma de Células Pequenas/genética , Sarcoma de Células Pequenas/patologia , Síndrome da Veia Cava Superior/genética
10.
Eur J Cancer ; 183: 11-23, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36791667

RESUMO

BACKGROUND: Undifferentiated small round cell sarcomas (URCSs) represent a diagnostic challenge, and their optimal treatment is unknown. We aimed to define the clinical characteristics, treatment, and outcome of URCS patients. METHODS: URCS patients treated from 1983 to 2019 at 21 worldwide sarcoma reference centres were retrospectively identified. Based on molecular assessment, cases were classified as follows: (1) CIC-rearranged round cell sarcomas, (2) BCOR::CCNB3-rearranged round cell sarcomas, (3) unclassified URCSs. Treatment, prognostic factors and outcome were reviewed. RESULTS: In total, 148 patients were identified [88/148 (60%) CIC-rearranged sarcoma (median age 32 years, range 7-78), 33/148 (22%) BCOR::CCNB3-rearranged (median age 17 years, range 5-91), and 27/148 (18%) unclassified URCSs (median age 37 years, range 4-70)]. One hundred-one (68.2%) cases presented with localised disease; 47 (31.8%) had metastases at diagnosis. Male prevalence, younger age, bone primary site, and a low rate of synchronous metastases were observed in BCOR::CCNB3-rearranged cases. Local treatment was surgery in 67/148 (45%) patients, and surgery + radiotherapy in 52/148 (35%). Chemotherapy was given to 122/148 (82%) patients. At a 42.7-month median follow-up, the 3-year overall survival (OS) was 92.2% (95% CI 71.5-98.0) in BCOR::CCNB3 patients, 39.6% (95% CI 27.7-51.3) in CIC-rearranged sarcomas, and 78.7% in unclassified URCSs (95% CI 56.1-90.6; p < 0.0001). CONCLUSIONS: This study is the largest conducted in URCS and confirms major differences in outcomes between URCS subtypes. A full molecular assessment should be undertaken when a diagnosis of URCS is suspected. Prospective studies are needed to better define the optimal treatment strategy in each URCS subtype.


Assuntos
Sarcoma de Células Pequenas , Sarcoma , Neoplasias de Tecidos Moles , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Biomarcadores Tumorais/genética , Ciclina B , Proteínas de Fusão Oncogênica , Proteínas Proto-Oncogênicas/genética , Proteínas Repressoras/genética , Estudos Retrospectivos , Sarcoma/genética , Sarcoma/terapia , Sarcoma/patologia , Sarcoma de Células Pequenas/genética , Sarcoma de Células Pequenas/terapia , Sarcoma de Células Pequenas/diagnóstico , Neoplasias de Tecidos Moles/patologia
11.
Mod Pathol ; 36(5): 100103, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36788092

RESUMO

Capicua transcriptional repressor (CIC)-rearranged sarcoma represents a distinct pathologic entity and constitutes the second most prevalent category of undifferentiated round cell sarcomas (URCSs) after Ewing sarcoma. The 2 most common translocations are t(4;19) and t(10;19), resulting in CIC fusions with either DUX4 and DUX4L paralog, respectively; however, other rare variant fusions have also been reported. In this study, we expand the molecular spectrum of CIC-gene partners, reporting on 5 cases of URCSs showing CIC fusions with AXL, CITED1, SYK, and LEUTX by targeted RNA or DNA sequencing. There were 4 female patients and 1 male patient with a wide age range (12-70 years; median, 36 years). Four cases occurred in the deep soft tissues (lower extremity, 3; neck, 1) and 1 case in the central nervous system (midbrain/thalamus). All cases showed similar histologic findings within the spectrum of URCSs. Immunohistochemistry, showed variable positivity for ETV4 in 4 of the 4 cases and positive results for ERG in 3 of the 4 cases and for WT1 in 1 of the 4 cases. CD31 showed positivity in 2 of the 3 cases, including one coexpressing ERG. Unsupervised clustering of methylation profiles by T-distributed stochastic neighborhood embedding performed in 4 cases showed that all clustered tightly together and along the CIC sarcoma methylation class. RNA-sequencing data showed consistent upregulation of ETV1 and ETV4 mRNA in all cases examined, at similar levels to CIC::DUX4 URCSs. Our study expands the molecular diversity of CIC-rearranged URCSs to include novel and rare partners, providing morphologic, immunohistochemical, gene expression, and methylation evidence supporting their classification within the family of tumors harboring the more common DUX4/DUX4L partner genes.


Assuntos
Sarcoma de Ewing , Sarcoma de Células Pequenas , Sarcoma , Humanos , Masculino , Feminino , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Sarcoma de Células Pequenas/genética , Sarcoma de Ewing/genética , Sarcoma/genética , Sarcoma/patologia , Rearranjo Gênico , RNA , Proteínas de Fusão Oncogênica/genética , Proteínas de Fusão Oncogênica/metabolismo , Biomarcadores Tumorais/genética
14.
Turk Neurosurg ; 33(1): 1-9, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35713256

RESUMO

AIM: To define a new approach for primary vertebral tumors by discussing them in the light of 2020 World Health Organization (WHO) classification of bone tumors. MATERIAL AND METHODS: In this study, we have discussed primary vertebral tumors in light of the 2020 Updated WHO Classification of Soft Tissue and Bone Tumors. RESULTS: Chondroblastoma and chondromyxoid fibroma has been classified in the benign category, while synovial chondromatosis has been moved from the benign category to the intermediate category. In the updated classification, grade I chondrosarcoma has been classified in the malignant category with grade II?III chondrosarcomas. Minor amendments have been made for osteosarcoma subtypes. Neoplasms of undetermined origin, such as aneurysmal cysts, simple bone cysts, fibrosis dysplasia, and osteofibrous dysplasia, have been classified as neoplastic lesions. Chordomas have been classified into ?not otherwise stated,? poorly differentiated chordomas, and dedifferentiated chordomas. Ewing?s sarcomas have been classified in a separate section for undifferentiated, small, round cell sarcomas of the bone and soft tissue. In this section, three distinct subsets different from Ewing?s sarcoma have been discussed. CIC-rearranged sarcoma, BCOR-rearranged sarcoma, and round cell sarcomas with EWSR1 gene fusion with non-ETS family members. CONCLUSION: In this study, we have reviewed the new classifications and discussed their effect on decision making in spinal oncologic surgery.


Assuntos
Neoplasias Ósseas , Cordoma , Sarcoma de Ewing , Sarcoma de Células Pequenas , Sarcoma , Humanos , Neoplasias Ósseas/genética , Neoplasias Ósseas/patologia , Sarcoma de Ewing/genética , Sarcoma de Ewing/patologia , Sarcoma/genética , Sarcoma de Células Pequenas/genética , Sarcoma de Células Pequenas/patologia , Biomarcadores Tumorais/genética
15.
Cancer Med ; 12(7): 7801-7807, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36537582

RESUMO

BACKGROUND: CIC-rearranged sarcomas (CIC-RS) represent the most frequent subset of "Ewing-like" undifferentiated small round cell sarcomas. These tumors tend to be more aggressive than Ewing sarcomas. Moreover, treatment strategy can differ according to teams. The primary aim of this retrospective study was to describe the characteristics, treatments, and outcome for patients with CIC-RS included in the French NETSARC+ database. METHODS: Pediatric and adult patients from 13 French centers with a diagnosis of CIC-RS were registered from October 2008 to March 2021. Patients and tumors characteristics were collected from the national network NETSARC+ database (http://netsarc.sarcomabcb.org). CIC-RS diagnosis was pathologically and molecularly confirmed with a central review by expert pathologists. Two groups of patients were studied: those treated as classical Ewing sarcomas (cohort EwS) and those treated as high-grade soft tissue sarcomas (cohort STS) according to ESMO and/or EpSSG guidelines. Survival was calculated using the Kaplan-Meier method and the log-rank test was used to compare survival. RESULTS: Among 79 patients, the male/female sex ratio was 0.7 and the median age at diagnosis was 27 years (range 2-87). With a median follow-up of 37 months, 39 patients died of the disease. Median overall survival from diagnosis was 18 months, with no significant difference between both cohorts (p = 0.9). Nevertheless, when focusing on patients with metastatic disease at diagnosis (N = 21), all patients from cohort STS died of disease while some patients from cohort EwS were still alive and in complete remission. CONCLUSION: FSG experience confirms the aggressive clinical course of CDS patients regardless of chemotherapy regimen.


Assuntos
Neoplasias Ósseas , Sarcoma de Ewing , Sarcoma de Células Pequenas , Sarcoma , Neoplasias Cutâneas , Neoplasias de Tecidos Moles , Adulto , Humanos , Masculino , Feminino , Criança , Pré-Escolar , Adolescente , Adulto Jovem , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Sarcoma de Ewing/genética , Sarcoma de Ewing/terapia , Sarcoma de Ewing/diagnóstico , Estudos Retrospectivos , Sarcoma de Células Pequenas/diagnóstico , Sarcoma de Células Pequenas/patologia , Sarcoma/epidemiologia , Sarcoma/genética , Sarcoma/terapia , Neoplasias Ósseas/epidemiologia , Neoplasias Ósseas/genética , Neoplasias Ósseas/terapia , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/terapia , Neoplasias de Tecidos Moles/diagnóstico , Morte , Proteínas de Fusão Oncogênica , Biomarcadores Tumorais
16.
Histopathology ; 82(6): 794-811, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36424903

RESUMO

Primary bone tumours can pose diagnostic problems due to their overlapping radiologic and histologic features. Given the recent advancement in our understanding of the biology of bone tumours, multiple immunohistochemical and molecular markers have been devised to aid in their diagnosis. This review provides brief updates on select bone tumours, including chondrosarcomas, benign chondrogenic tumours, osteosarcomas, benign osteogenic tumours, fibroosseous lesions, vascular tumours, osteoclastic giant cell-rich or cystic tumours, chordoma, adamantinoma, small round blue cell sarcomas, and others. We discuss their salient molecular features and novel immunohistochemical correlates, along with some tips to avoid common diagnostic pitfalls.


Assuntos
Neoplasias Ósseas , Condrossarcoma , Osteossarcoma , Sarcoma de Células Pequenas , Humanos , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/patologia , Osso e Ossos/patologia , Osteossarcoma/patologia , Condrossarcoma/diagnóstico , Condrossarcoma/patologia
17.
Pathol Int ; 73(1): 12-26, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36484765

RESUMO

The fifth edition of the World Health Organization classification of soft tissue and bone tumors redefined Ewing sarcoma by fusions between EWSR1/FUS and ETS family of transcription factors, and recognized three tumor groups among Ewing-like sarcoma: CIC-rearranged sarcoma, sarcoma with BCOR genetic alterations, and round cell sarcoma with EWSR1::non-ETS fusions. Although this classification underscores the critical role of molecular genetics in the diagnosis of small round cell sarcoma, each entry is recognized as a specific entity not only because they have different genetics but because their phenotypes are distinct and reasonably robust to support the diagnosis. This review focuses on the morphological aspects of Ewing sarcoma and a subset of Ewing-like sarcomas (CIC-rearranged sarcoma, BCOR-associated sarcoma, and EWSR1::NFATC2 sarcoma) for which phenotypic characteristics have been well established. Classic histological findings, uncommon variations, and recurrent diagnostic pitfalls are addressed, along with the utility of recently developed immunohistochemical markers (NKX2.2, PAX7, ETV4, BCOR, CCNB3, and NKX3.1). Phenotypic expertise would significantly expedite the diagnostic process and complement (or sometimes outperform) genetic testing, even in well-resourced settings. Morphological knowledge plays an even more substantial role in facilities that do not have easy access to molecular testing.


Assuntos
Neoplasias Ósseas , Sarcoma de Ewing , Sarcoma de Células Pequenas , Sarcoma , Humanos , Sarcoma de Ewing/diagnóstico , Sarcoma de Ewing/genética , Sarcoma de Ewing/patologia , Sarcoma/diagnóstico , Sarcoma de Células Pequenas/diagnóstico , Sarcoma de Células Pequenas/genética , Sarcoma de Células Pequenas/patologia , Fatores de Transcrição/genética , Neoplasias Ósseas/diagnóstico , Neoplasias Ósseas/genética , Biomarcadores Tumorais/genética , Proteínas de Fusão Oncogênica/genética
18.
Zhonghua Bing Li Xue Za Zhi ; 51(11): 1141-1146, 2022 Nov 08.
Artigo em Chinês | MEDLINE | ID: mdl-36323544

RESUMO

Objective: To investigate the histopathologic, immunohistochemical, molecular genetic characteristics of CIC-rearranged sarcoma (CRS) with rhabdoid features. Methods: The clinical and pathologic data of two cases of CRS diagnosed between 2019 and 2021 at the Department of Pathology, Jiangsu Province Hospital were analyzed. Immunohistochemical study and fluorescence in situ hybridization (FISH) were performed. The relevant literature was reviewed. Results: Both patients were female, one was 58 years old, with tumor located in left thigh; the other was 43 years old, with tumor located in left pelvic cavity. Microscopically, both tumors were composed of small to medium-sized round, oval cells, arranged in nodules or sheets. The tumor cells showed irregular nuclear outline, coarse chromatin with prominent nucleoli and brisk mitotic activity. Both cases showed rhabdoid phenotype with myxoid stromal changes. Immunohistochemically, both cases were positive for CD99 and c-myc. High WT1 reactivity was seen in classic area, with low reactivity in rhabdoid area. There was no INI1 lost in both cases. Both were negative for NKX2.2 and NKX3.1. By FISH both cases demonstrated convincing break-apart signals of CIC gene. One patient died of disease after 1 month, and the other died of disease after 3 months. Conclusions: CRS is a small round cell undifferentiated sarcoma of the bone and soft tissue defined by molecular genetic characteristics, and may show atypical morphologic and immunophenotypic characteristics such as rhabdoid features. A correct understanding of its rare morphologic and immunophenotypic characteristics, combined with molecular pathologic detection, is conducive to correct diagnosis.


Assuntos
Sarcoma de Células Pequenas , Sarcoma , Feminino , Humanos , Masculino , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/análise , Hibridização in Situ Fluorescente , Sarcoma/patologia , Sarcoma de Células Pequenas/diagnóstico , Sarcoma de Células Pequenas/genética , Sarcoma de Células Pequenas/patologia , Fatores de Transcrição/genética , Tumor Rabdoide/diagnóstico , Tumor Rabdoide/genética , Tumor Rabdoide/patologia
19.
Nat Rev Dis Primers ; 8(1): 66, 2022 10 06.
Artigo em Inglês | MEDLINE | ID: mdl-36202860

RESUMO

Undifferentiated small round cell sarcomas (SRCSs) of bone and soft tissue comprise a heterogeneous group of highly aggressive tumours associated with a poor prognosis, especially in metastatic disease. SRCS entities mainly occur in the third decade of life and can exhibit striking disparities regarding preferentially affected sex and tumour localization. SRCSs comprise new entities defined by specific genetic abnormalities, namely EWSR1-non-ETS fusions, CIC-rearrangements or BCOR genetic alterations, as well as EWSR1-ETS fusions in the prototypic SRCS Ewing sarcoma. These gene fusions mainly encode aberrant oncogenic transcription factors that massively rewire the transcriptome and epigenome of the as yet unknown cell or cells of origin. Additional mutations or copy number variants are rare at diagnosis and, depending on the tumour entity, may involve TP53, CDKN2A and others. Histologically, these lesions consist of small round cells expressing variable levels of CD99 and specific marker proteins, including cyclin B3, ETV4, WT1, NKX3-1 and aggrecan, depending on the entity. Besides locoregional treatment that should follow standard protocols for sarcoma management, (neo)adjuvant treatment is as yet ill-defined but generally follows that of Ewing sarcoma and is associated with adverse effects that might compromise quality of life. Emerging studies on the molecular mechanisms of SRCSs and the development of genetically engineered animal models hold promise for improvements in early detection, disease monitoring, treatment-related toxicity, overall survival and quality of life.


Assuntos
Sarcoma de Ewing , Sarcoma de Células Pequenas , Sarcoma , Agrecanas , Humanos , Qualidade de Vida , Sarcoma/diagnóstico , Sarcoma/genética , Sarcoma/terapia , Sarcoma de Ewing/diagnóstico , Sarcoma de Células Pequenas/diagnóstico , Sarcoma de Células Pequenas/genética , Sarcoma de Células Pequenas/patologia , Fatores de Transcrição
20.
Nat Rev Dis Primers ; 8(1): 65, 2022 10 06.
Artigo em Inglês | MEDLINE | ID: mdl-36202871
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