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Background: Molecular confirmation of histologic diagnosis has become mandatory for the diagnosis of Ewing sarcoma family of tumors (ESFT). Aim: To validate the diagnosis made by morphology and immunohistochemistry (IHC) by fluorescence in-situ hybridization (FISH) for EWSR1 rearrangement on formalin fixed paraffin embedded (FFPE) tissues. Settings and design: A retrospective and prospective observational study. Material and methods: All patients who had FISH studies for EWSR1 rearrangement for small round cell tumors during 10 years period were included. Demographic, clinical and radiological details were obtained from medical records. Morphology was reviewed with IHC by CD99, FLI1 and others. FISH studies were performed using the break apart probe. Additional molecular studies and IHC were done to resolve the diagnosis in EWSR1 rearranged tumors. Final diagnosis was made by integrating clinical, morphology, IHC and molecular features. Results: There were 81 patients (M: F 45:36, median age 21 years) with 32 skeletal and 49 extra skeletal tumors. CD 99 was positive in 94.52%. FISH for EWSR1 were positive in 59, negative in 13 and failed in 9. The final diagnosis was made as ESFT in 67, angiomatoid fibrous histiocytoma in 3, desmoplastic small round cell tumor in 3, myxoid chondrosarcoma in 2, unclassified in one, synovial sarcoma in 3, and one each of lymphoma and small cell neuroendocrine carcinoma. FISH was positive for ESFT in 89.83% of EWSR1 rearranged tumors. FISH validated the diagnosis made on IHC in 79.10%. FISH resolved the diagnosis in 1.49% CD99 negative tumors. Conclusion: FISH is a reliable ancillary technique for the diagnosis of ESFT on FFPE tissues.

Abstract Background Patients with Ewing's sarcoma family of tumors (ESFT) who experience relapse or progression have a poor prognosis. Aim This study aimed to identify the prognostic and therapeutic factors affecting overall survival (OS) of patients with recurrent or refractory localized ESFT. Methods and results Thirty‐eight patients with localized ESFT who experienced first relapse or progression between 2000 and 2018 were retrospectively reviewed. The 5‐year OS rate of the entire cohort was 48.3% (95% confidence interval, 29.9%‐64.5%). Multivariate analysis of OS identified time to relapse or progression, but not stem cell transplantation (SCT), as the sole independent risk factor (hazard ratio, 35.8; P = .002). Among 31 patients who received salvage chemotherapy before local treatment, 21 received chemotherapy regimens that are not conventionally used for newly diagnosed ESFT. The objective response rate to first‐line salvage chemotherapy was 55.2% in the 29 evaluable patients. Time to relapse or progression was significantly associated with response to first‐line salvage chemotherapy (P = .006). Conclusions The present study fails to demonstrate significant clinical benefit of SCT for recurrent or refractory localized ESFT. Recently established chemotherapy regimens may increase the survival rate of patients with recurrent or refractory localized ESFT while attenuating the beneficial effect of SCT.

Abstract Background Nuclear protein in testis (NUT) carcinoma (NC) is a rare epithelial malignancy characterized by rearrangement of the NUT gene on chromosome 15. If NC is not suspected, it is often diagnosed as other malignancies. We present the case of NC of the nasal cavity that responded to a chemotherapy regimen for Ewing’s sarcoma family of tumors (ESFT). Case presentation A 49-year-old male presented with epistaxis and pain in the left eye. The patient had a tumor in the left nasal cavity at initial visit and it was biopsied. Firstly, the man was diagnosed with ESFT based on a histopathological examination. The tumor markedly responded to standard cytotoxic chemotherapy for ESFT with distant metastasis. After the start of therapy, a chromosomal analysis revealed an atypical translocation in ESFT and additional immunostaining was positive for anti-NUT antibody. Ultimately, the patient was definitively diagnosed with NC. He received multidisciplinary therapy and symptoms were temporarily relieved. However, he died 9 months after the diagnosis of NC. Conclusions When a pathologically undifferentiated tumor is evident along the midline of the body, NC must be included in the differential diagnosis, and immunohistochemical staining or genetic testing/chromosomal analysis needs to be performed.

The Ewing’s sarcoma family of tumors are aggressive malignant small round blue cell tumors of undifferentiated mesenchymal origin. Skeletal Ewing’s sarcoma is a common entity that classically involves the diaphysis of the long bones, pelvis, ribs, and sacrum. Extraosseous Ewing’s sarcoma (EES) is rare, most commonly presenting as a paravertebral mass lesion. Its manifestation as an anterior epidural mass lesion with extension along brachial plexus is an even rarer phenomenon. A 25‑year‑old male presented with neck stiffness and progressive weakness of the bilateral upper and lower limbs. Magnetic resonance imaging of the cervical spine revealed an anterior epidural mass lesion compressing the cervical cord and extending along the right brachial plexus, suggesting imaging differentials of EES and lymphoma. The patient underwent laminectomy with gross tumor resection, and histopathology confirmed a diagnosis of EES. EES should be kept in the differential diagnosis of anterior epidural mass lesions in young adults, specifically when the lesion shows extension along multiple neural foramina and nerve plexus. [ABSTRACT FROM AUTHOR]

Pulmonary mesenchymal tumors are uncommon neoplasms and the data available on their clinical, cytohistomorphological, immunohistochemical, and molecular findings are limited, leading to difficulty in timely diagnosis and management. Case 1: A 12-year-old boy presented with a right endobronchial mass. Imprint smears from endobronchial biopsy revealed moderately pleomorphic spindle cell tumor arranged in fascicles and perivascular pattern with attached myxoid material showing occasional mitotic activity suggesting a cytological diagnosis of sarcoma. Biopsy also displayed similar morphology. Extensive immunohistochemistry (IHC) showed diffuse SMA, focal AE1/AE3, and diffuse ALK positivity along with a MIB/Ki67 index of 30%-40% leading to the diagnosis of inflammatory myofibroblastic tumor (IMT; Sarcoma grade). Case 2: A 8-year-old boy presented with a huge left-sided mass replacing the entire lung parenchyma and eroding adjoining ribs. Pleural fluid cytology revealed vague clusters of PAS-positive diastase-sensitive small atypical cells with associated inflammatory cells in the hemorrhagic background, suggesting a diagnosis of malignant small round blue cell tumor. Trucut biopsy from the mass showed spindled to round cells showing diffuse positivity with CD99 and BCL-2. Molecular studies with reverse transcription-PCR (RT-PCR) for SYT-SSX and EWS-FLI1 were negative for synovial sarcoma and Ewing's sarcoma, respectively. Given the clinical setting, PAS positivity, IHC, and molecular studies, the diagnosis of tumors of uncertain differentiation with the possibility of Ewing's sarcoma family of tumors (ESFT) with a translocation between EWS1 and other ETS-family members (ERG, FEV, ETV1, E1AF, etc.) was suggested., (© 2024 Wiley Periodicals LLC.)

Aim of the study was to investigate the demographics of Ewing sarcoma family of tumours (ESTF) patients, treatment alternatives, clinical outcomes, and prognostic factors for survival. Material and methods : We retrospectively reviewed 39 patients with ESFT who were admitted to our institute between September 2008 and September 2012. Results: The patients included 32 (82.1%) males and seven (17.9%) females of median age 24 (range, 18–66) years. Among the 27 patients with a primary osseous localization, 17 (43.5%) had a central axis localization. Fifteen patients (38.5%) had metastases at the time of diagnosis. Patients were followed up for a median period of 18 (range, 2–134) months. The median event-free survival (EFS) was 23 (range, 1–64) months, and the 1- and 4-year EFS were 60% and 48%, respectively. The median overall survival (OS) was 91 (range, 1–188) months, and the 1- and 4-year OS were 78% and 54%, respectively. Gender, age, primary tumor site, and local treatment modalities, either alone or in combination, did not have a significant effect on OS (p = 0.210, p = 0.617, p = 0.644, and p = 0.417, respectively). In contrast, osseous site of peripheral localization, limited stage, and metastasis to the bone significantly affected OS (p = 0.015, p < 0.001, and p = 0.042, respectively). Discussion : ESFTs are aggressive tumors with a high rate of relapse and metastatic potential. Patients with peripheral bone involvement and limited stage had a good prognosis. Appropriate surgical resection, radiotherapy, and aggressive chemotherapy regimens are recommended.

Background: Nuclear protein in testis (NUT) carcinoma (NC) is a rare epithelial malignancy characterized by rearrangement of the NUT gene on chromosome 15. If NC is not suspected, it is often diagnosed as other malignancies. We present the case of NC of the nasal cavity that responded to a chemotherapy regimen for Ewing's sarcoma family of tumors (ESFT).Case Presentation: A 49-year-old male presented with epistaxis and pain in the left eye. The patient had a tumor in the left nasal cavity at initial visit and it was biopsied. Firstly, the man was diagnosed with ESFT based on a histopathological examination. The tumor markedly responded to standard cytotoxic chemotherapy for ESFT with distant metastasis. After the start of therapy, a chromosomal analysis revealed an atypical translocation in ESFT and additional immunostaining was positive for anti-NUT antibody. Ultimately, the patient was definitively diagnosed with NC. He received multidisciplinary therapy and symptoms were temporarily relieved. However, he died 9 months after the diagnosis of NC.Conclusions: When a pathologically undifferentiated tumor is evident along the midline of the body, NC must be included in the differential diagnosis, and immunohistochemical staining or genetic testing/chromosomal analysis needs to be performed. [ABSTRACT FROM AUTHOR]

Aim of the study was to investigate the demographics of Ewing sarcoma family of tumours (ESTF) patients, treatment alternatives, clinical outcomes, and prognostic factors for survival. Material and methods: We retrospectively reviewed 39 patients with ESFT who were admitted to our institute between September 2008 and September 2012. Results: The patients included 32 (82.1%) males and seven (17.9%) females of median age 24 (range, 18-66) years. Among the 27 patients with a primary osseous localization, 17 (43.5%) had a central axis localization. Fifteen patients (38.5%) had metastases at the time of diagnosis. Patients were followed up for a median period of 18 (range, 2-134) months. The median eventfree survival (EFS) was 23 (range, 1-64) months, and the 1- and 4-year EFS were 60% and 48%, respectively. The median overall survival (OS) was 91 (range, 1-188) months, and the 1- and 4-year OS were 78% and 54%, respectively. Gender, age, primary tumor site, and local treatment modalities, either alone or in combination, did not have a significant effect on OS (p = 0.210, p = 0.617, p = 0.644, and p = 0.417, respectively). In contrast, osseous site of peripheral localization, limited stage, and metastasis to the bone significantly affected OS (p = 0.015, p < 0.001, and p = 0.042, respectively). Conclusions: ESFTs are aggressive tumors with a high rate of relapse and metastatic potential. Patients with peripheral bone involvement and limited stage had a good prognosis. Appropriate surgical resection, radiotherapy, and aggressive chemotherapy regimens are recommended. [ABSTRACT FROM AUTHOR]

Askin's tumors are rare malignant neoplasms located in the thoracopulmonary region and mainly occur in children and adolescents. In this report, we describe a case of histologically proven Askin's tumor in a 24-year-old male. The patient was admitted with a history of 3-month lower back pain and with a rare presentation of paraparesis., Competing Interests: There are no conflicts of interest., (Copyright: © 2023 Indian Journal of Nuclear Medicine.)

Background: Treatment for unresectable Ewing's sarcoma family of tumors (ESFT) is a formidable challenge because of its high tendency for local and distant failure. Recently, carbon-ion radiotherapy (CIRT) has been applied to unresectable bone and soft tissue sarcoma. Additionally, high-dose chemotherapy (HDC) with stem cell rescue has been used to improve the survival of patients with relapsed ESFT. Here we report our experience with CIRT and HDC in the treatment of unresectable ESFT. Methods: Five unresectable ESFT patients including 4 who underwent CIRT and HDC and one who underwent CIRT from 1999−2009 were retrospectively studied. After neoadjuvant chemotherapy, CIRT was conducted at the National Institute of Radiological Sciences in Chiba as local therapy. Consecutively, we employed HDC including busulfan, melphalan, and thiotepa with stem cell rescue. Results: Two patients showed tumor shrinkage after CIRT, including 1 patient who achieved partial response. No severe acute toxicity related to CIRT was observed. Local failure was observed in only 1 patient at 22 months after CIRT. Four patients conducted HDC with stem cell rescue after CIRT and 1 patient suffered from veno-occlusive disease just after HDC. Distant failure was observed in 3 patients after completion of the treatment. Conclusions: CIRT and HDC for unresectable ESFT patients show favorable local control, with unsatisfactory results for distant control. [ABSTRACT FROM AUTHOR]

Abstract: Neuropeptide Y (NPY) is a sympathetic neurotransmitter recently found to be a potent growth and angiogenic factor. The peptide and its receptors are abundant in neural crest-derived tumors, such as sympathetic neuroblastomas and pheochromocytomas, as well as parasympathetic Ewing''s sarcoma family of tumors. NPY regulates their growth directly, by an autocrine activation of tumor cell proliferation or apoptosis, and indirectly, by its angiogenic activity. The overall effect of the peptide on tumor growth depends on a balance between these processes and the type of receptors expressed in the tumor cells. Thus, NPY and its receptors may become targets for the treatment of neural tumors, directed against both tumor cell proliferation and angiogenesis. [Copyright &y& Elsevier]

Although a multimodal approach consisting of chemotherapy and local control with surgery and/or radiation has improved survival in children with Ewing's sarcoma family of tumors, the prognosis for patients with high-risk disease remains poor. More aggressive treatments with high-dose myeloablative chemotherapy followed by stem cell rescue have been utilized in an attempt to improve survival in these patients. Although many studies have been published, it is difficult to interpret the data since patient populations were heterogeneous with respect to disease stage, prior therapy, conditioning and stem cell source. Furthermore, there was no uniform definition of high risk, the sample sizes were small and most studies lacked appropriate control groups. Assessment of the utility of megatherapy will require prospective controlled studies. [ABSTRACT FROM AUTHOR]

There have been approximately 10 reports in English literature of cases of Ewing's sarcoma family of tumors (EFT) arising in the maxillary sinus. In this location, some tumors mimic EFT, and are more frequently encountered. Herein, we present an additional case of an EFT originating in the maxillary sinus. The patient was a 15-year-old boy complaining of a non-tender swelling of the left cheek. Laboratory tests showed no abnormalities. Computed tomography and magnetic resonance imaging revealed a mass centered in the maxillary sinus with degeneration of the surrounding bones. Pathological examination along with flow cytometry and G-banding enabled the prompt diagnosis of EFT with the EWS/FLI1 fusion gene. The patient is planned to undergo chemotherapy. An origin in the head and neck and the presence of the typical EWS/FLI1, in conjunction with an opportunity for immediate treatment, may predict a relatively better prognosis for EFT in our case.