Round Cell Tumor Research Articles

Desmoplastic Small Round Cell Tumor: A Case Report

Introduction Desmoplastic small round cell tumor (DSRCT) is an ultra-rare and highly aggressive mesenchymal tumor that primarily affects the peritoneum, and to a lesser extent, the visceral organs in the abdominal cavity. This study presents a case of a patient who has been diagnosed with DSRCT and has been managed with VAC-IE chemotherapy. Case presentation A 43-year-old male presented with a complaint of epigastric pain for 20 days but no other clinical symptoms. A CT scan and an abdominal ultrasound showed multiple lesions in the peritoneum, and biopsies were taken from all the sites. Histological analysis revealed nests of small blue round cells surrounded by an abundant stroma. Immunohistochemistry results confirmed the disease to be a desmoplastic small round cell tumor. Conclusion This disease is yet to be fully understood, and the response of our case to VAC-IE chemotherapy has shown promising outcomes. This form of treatment can be further studied to establish and help in finding a treatment with a better prognosis.

EWSR1::WT1 Fusions in Neoplasms Other Than Conventional Desmoplastic Small Round Cell Tumor: Three Tumors Occurring Outside the Female Genital Tract

Desmoplastic small round cell tumor (DSRCT) is a high-grade, primitive round cell sarcoma classically associated with prominent desmoplastic stroma, coexpression of keratin and desmin, and a characteristic EWSR1::WT1 gene fusion. DSRCT typically arises in the abdominopelvic cavity of young males with diffuse peritoneal spread and poor overall survival. Although originally considered to be pathognomonic for DSRCT, EWSR1::WT1 gene fusions have recently been detected in rare tumors lacking the characteristic morphologic and immunohistochemical features of DSRCT. Here, we report 3 additional cases of neoplasms other than conventional DSCRCT with EWSR1::WT1 gene fusions that occurred outside the female genital tract. Two occurred in the abdominopelvic cavities of a 27-year-old man and a 12-year-old girl, whereas the third arose in the axillary soft tissue of an 85-year-old man. All cases lacked prominent desmoplastic stroma and were instead solid and cystic with peripheral fibrous pseudocapsules and occasional intervening fibrous septa. Necrosis was either absent (1/3) or rare (2/3), and mitotic activity was low (<1 to 3 per 10 hpf). In immunohistochemical studies, there was expression of smooth muscle actin (3/3) and desmin (3/3), rare to focal reactivity for EMA (2/3), and variable expression of CK AE1/AE3 (1/3). Myogenin and MyoD1 were negative, and C-terminus-specific WT1 was positive in both cases tested (2/2). All 3 tumors followed a more indolent clinical course with 2 cases demonstrating no evidence of disease at 20 and 44 months after resection. The patient from case 3 died of other causes at 14 months with no evidence of recurrence. DNA methylation profiling showed that the 3 cases clustered with DSRCT; however, they demonstrated fewer copy number variations with 2 cases having a flat profile (0% copy number variation). Differential methylation analysis with hierarchical clustering further showed variation between the 3 cases and conventional DSRCT. Although further study is needed, our results, in addition to previous reports, suggest that EWSR1::WT1 gene fusions occur in rare and seemingly distinctive tumors other than conventional DSRCT with indolent behavior. Proper classification of these unusual soft tissue tumors with EWSR1::WT1 gene fusions requires direct correlation with tumor morphology and clinical behavior, which is essential to avoid overtreatment with aggressive chemotherapy.

CXCR4-directed PET/CT with [68 Ga]Ga-pentixafor in solid tumors—a comprehensive analysis of imaging findings and comparison with histopathology

BackgroundC-X-C motif chemokine receptor 4 (CXCR4) is overexpressed in various solid cancers and can be targeted by CXCR4-directed molecular imaging. We aimed to characterize the in-vivo CXCR4 expression in patients affected with solid tumors, along with a comparison to ex-vivo findings.MethodsA total 142 patients with 23 different histologically proven solid tumors were imaged with CXCR4-directed PET/CT using [68 Ga]Ga-pentixafor (total number of scans, 152). A semi-quantitative analysis of the CXCR4-positive tumor burden including maximum standardized uptake values (SUVmax) and target-to-background ratios (TBR) using blood pool was conducted. In addition, we performed histopathological staining to determine the immuno-reactive score (IRS) from patients’ tumor tissue and investigated possible correlations with SUVmax (by providing Spearman’s rho ρ). Based on imaging, we also assessed the eligibility for CXCR4-targeted radioligand therapy or non-radioactive CXCR4 inhibitory treatment (defined as more than five CXCR4-avid target lesions [TL] with SUVmax above 10).ResultsOne hundred three of 152 (67.8%) scans showed discernible uptake above blood pool (TBR > 1) in 462 lesions (52 primary tumors and 410 metastases). Median TBR was 4.4 (1.05–24.98), thereby indicating high image contrast. The highest SUVmax was observed in ovarian cancer, followed by small cell lung cancer, desmoplastic small round cell tumor, and adrenocortical carcinoma. When comparing radiotracer accumulation between primary tumors and metastases for the entire cohort, comparable SUVmax was recorded (P > 0.999), except for pulmonal findings (P = 0.013), indicative for uniform CXCR4 expression among TL. For higher IRS, a weak, but statistically significant correlation with increased SUVmax was observed (ρ = 0.328; P = 0.018). In 42/103 (40.8%) scans, more than five TL were recorded, with 12/42 (28.6%) exhibiting SUVmax above 10, suggesting eligibility for CXCR4-targeted treatment in this subcohort.ConclusionsIn a whole-body tumor read-out, a substantial portion of prevalent solid tumors demonstrated increased and uniform [68 Ga]Ga-pentixafor uptake, along with high image contrast. We also observed a respective link between in- and ex-vivo CXCR4 expression, suggesting high specificity of the PET agent. Last, a fraction of patients with [68 Ga]Ga-pentixafor-positive tumor burden were rendered potentially suitable for CXCR4-directed therapy.

Huge and Hemorrhagic Primary Undifferentiated Small Round Cell Tumor of the Orbit: A Case Report

Small round cell sarcomas are defined by malignant, round, small, relatively undifferentiated cells. When a tumor is poorly differentiated, identification of the diagnostic and morphological features is difficult and therefore, no definitive diagnosis may be possible [1].

A case of askin’s tumor presenting as acute paraplegia

Askin tumor is an uncommon malignant neoplasm of a neuroectodermic origin that arises from the soft tissues of the thoracopulmonary wall. Defined histologically by malignant small round cell tumor and immunohistochemistry positive for CD99. The lack of clinical guides that establish a standardized management contributes to its poor prognosis and short overall survival.

Case Report: Cytodiagnosis of primitive neuroectodermal tumor (PNET) of sinonasal tract

Malignant sinonasal tumors are rarely encountered in the practice of oncology as they constitute only 1% of total body tumors. The occurrence of primitive neuroectodermal tumor (PNET) in the sinonasal tract is even more uncommon. The PNET belongs to Ewing sarcoma family and forms the differential diagnosis of a large group of lesions generally described as malignant round cell tumors. The unique pathogenetic chromosomal alteration in this lesion is the EWS FLI1 fusion gene. This case report describes the unusual occurrence of PNET for its cytomorphological diagnosis along with its clinical features, radioimaging findings and immunohistochemistry. Such case reports are scarce in literature and cytodiagnosis of PNET in sinonasal tracts warrants its sharing with medical fraternity as such diagnoses are stumbled along rarely in clinical practice.

Biliary hemorrhage caused by a malignant small round cell tumor in the common bile duct: A case report

Type 2 diabetes mellitus (T2DM), which is distinguished by increased glucose levels in the bloodstream, is a metabolic disease with a rapidly increasing incidence worldwide. Nevertheless, the etiology and characteristics of the mechanism of T2DM remain unclear. Recently, abundant evidence has indicated that the intestinal microbiota is crucially involved in the initiation and progression of T2DM. The gut microbiome, the largest microecosystem, engages in material and energy metabolism in the human body. In this review, we concentrated on the correlation between the gut flora and T2DM. Meanwhile, we summarized the pathogenesis involving the intestinal flora in T2DM, as well as therapeutic approaches aimed at modulating the gut microbiota for the management of T2DM. Through the analysis presented here, we draw attention to further exploration of these research directions.

Clinical and cytohistomorphological evaluation of peripheral nerve sheath tumours with special reference to immunohistochemical diversity in a tertiary care hospital

Peripheral Nerve Sheath Tumours (PNST), though have a frequent prevalence, are diagnostically challenging. There is a wide spectrum of lesions ranging from benign entities like neurofibroma, Schwannoma, perineurioma to malignant entities like malignant peripheral nerve sheath tumours (MPNST), malignant granular cell tumour and malignant perineurioma. Since there is an overlap with other spindle and round cell tumours, IHC and molecular studies are needed to provide a clear distinction between different tumour types. It was a 5 years observational study (3 years retrospective and 2 years prospective) conducted in the Department of Pathology, JNMCH, AMU from 2015-2020. . History and relevant clinical findings were retrieved from the archives of both the Histopathology and Cytopathology Lab. Imprints as well as FNA smears were included from Cytopathology Lab and biopsies and resection specimen from Histopathology Lab. Immunohistochemistry was applied wherever necessary. A total of 82 cases were diagnosed over a 5 year period out of which 70 were benign and 12 malignant. Male preponderance was seen. Benign tumours comprised mostly of Neurofibroma and Schwannoma and there were 12 cases of MPNST. Correlation was established between Cytopathological and Histopathological findings and IHC, mostly S100 proved useful in differentiating it from other malignant spindle cell tumours. The differential diagnoses of these tumours has always posed a problem given their monotonous appearance and clinical overlap. This study, therefore, aims to analyse the diverse morphological features of Peripheral Nerve Sheath Tumours in the light of cytopathological and histopathological findings and immunohistochemistry.

Primary intra-axial Ewing sarcoma of the central nervous system: report of a rare case with literature review

BackgroundPrimary intra-axial Ewing sarcoma (EWS) is extremely rare and a highly aggressive small blue round cell tumor in the central nervous system (CNS). We reported a case of primary intra-axial CNS-EWS in a 30-year-old male and presented an extensive literature review of CNS-EWS cases.Case presentationA 30-year-old male had been diagnosed with a grade 2 astrocytoma in the left frontal lobe a year ago and had received chemotherapy and radiotherapy. He presented with a right-sided mass, which was revealed to be a 6 cm contrast-enhancing lesion with heterogeneous hemorrhagic areas in the right frontal lobe. The patient underwent emergent craniotomy for surgical excision. Histologically, the tumor was composed of high-grade, small, blue, round cells forming trabecular islands and rosettes which were separated by fibrovascular tissues. In immunohistochemical (IHC) examination, the tumor cells were positive for CD99 and FLI-1. Fluorescence in situ hybridization analysis revealed the presence of EWSR1 gene rearrangement. The histopathological, IHC, and molecular findings were consistent with a diagnosis of EWS. Further imaging did not show evidence of another primary site. The patient was followed up without further therapy and succumbed to the disease three months after the diagnosis.ConclusionEWS is very rare but an aggressive neoplasm in the CNS. Chemoradiotherapy may promote secondary cancers but it is unclear whether the development of EWS was associated with chemoradiotherapy that our case had received for astrocytoma. EWS should be considered when diagnosing a CNS tumor that shows small, blue, round cell tumor morphology. A combination of IHC and molecular tests is required for accurate diagnosis to ensure that all patients receive the most appropriate treatment to optimize outcomes.

1936P Targeted therapy of desmoplastic small round cell tumor guided by multilayered molecular profiling

1936P Targeted therapy of desmoplastic small round cell tumor guided by multilayered molecular profiling

The Role of Whole Abdomen and Pelvis Radiation Therapy in Desmoplastic Small Round Cell Tumor

Desmoplastic small round cell tumor (DSRCT) is a rare entity that typically presents in adolescent and young adult men with widespread abdominopelvic disease. The benefit of whole abdomen and pelvis radiation therapy (WAPRT) after chemotherapy and maximal surgical resection is unknown. Our objective was to evaluate the oncologic benefit and toxicity of WAPRT in this rare and aggressive disease. We conducteda retrospective review of patients with DSRCT treated at our institution primarily between 2018-2021. The cumulative incidence (CI) of intra-abdominopelvic failure was compared among those who received WAPRT after chemotherapy and surgery vs those who received chemotherapy and surgery alone without WAPRT utilizing Gray's method. Progression-free survival (PFS) and overall survival (OS) were also compared among patients who did and did not receive WAPRT using the Kaplan-Meier method from the date of surgery. Toxicity was graded per CTCAE v5.0 criteria. Twenty-eight patients were included (median age 17.5 years; range 6-38 years; 78% male, 22% female). All patients received chemotherapy with VDC/IE, all but one underwent extensive tumor resection, and all but two received HIPEC at time of resection. Nineteen patients (median age 13 years) received WAPRT after surgery, while 9 patients (median age 24 years) were treated with systemic therapy and surgery alone. Patients who received WAPRT were generally treated to 30 Gy in 20 fractions utilizing intensity-modulated radiation therapy (IMRT), with a boost to gross disease to a total dose of 45-50 Gy in 9 patients. Median follow up was 20 months. The CI of intra-abdominopelvic failure at 12 and 24 months was 16% and 50% with WAPRT vs 74% and 87% without WAPRT (p = 0.003), with a median time from surgery to intra-abdominopelvic failure of 15 months after WAPRT vs 5 months without. PFS was also improved with WAP-RT (94% and 83% at 12 and 24 months) vs without WAPRT (67% and 0% at 12 and 24 months), p = 0.001. Among those who received WAPRT, patients who received a boost to gross disease had similar intra-abdominopelvic control as those who had no gross disease to boost and received WAPRT only (CI at 24 months 50% without boost vs 48% with, p = 0.95). OS did not differ between those who did and did not receive WAPRT (OS at 24 months, 88% vs 83%, p = 0.89). Most toxicities after WAPRT were mild, including grade 1-2 fatigue, nausea, and vomiting, with the exception of one patient who developed veno-occlusive disease. Although limited by selection bias and short follow up, our study shows durable intra-abdominopelvic control and an improvement in PFS after WAPRT with IMRT, without an effect on OS. Additional larger, prospective investigations evaluating the value and toxicity of WAPRT for DSRCT are warranted.

Malignant Small Round Cell Tumor: A Rare Aggressive Malignancy-Case Report

Background: Malignant Small round Cell Tumor (MSRCT) is very rare group of tumors. Malignant cells have similar histologic appearance making it difficult to distinguish one from another, and poses a diagnostic challenge with needs for a multimodal approach. Immunohistochemistry and immunophenotyping by flow cytometry, reverse transcriptase polymer chain reaction (RT-PCR) and fluorescence in situ hybridization are needed to confirm. The appropriate and best treatment in early stages of MSRCT is early surgical excision with chemoradiotherapy based on patient specification. Inspite of all these, tumors have poor prognosis and chance of recurrence are high. Method: Case study of a 27-year-old male who presented with a non-productive cough for 4 weeks, with feverish feeling with weight loss and shortness of breath and a new onset precordial chest pain non radiating and worse on exertion. On examination his vitals were: BP 121/91 mm of hg, pulse rate 114bpm, temperature 36.3 degrees Celsius, respiratory rate 24/per min, SPO2 96%.On examination, Elevated Jugular Venous Pressure, hyperactive precordium, displaced apex beat to 6th intercostal space anterior axillary line, muffled heart sounds and bilateral lower limb edema. Respiratory exam was unremarkable. Sputum gene expert was negative for mycobacterium tuberculosis and covid 19 rapid test was negative. Chest X Ray showed cardiomegaly and a transthoracic echocardiography revealed moderate-large pericardial effusion, with mild collapse of right atrium in diastole. Pericardiocentesis done showed hemorrhagic effusion with lymphocytes cell component, patient was initiated on treatment for TB pericarditis empirically. Three months later a chest CT scan done revealed extensive mediastinal/pericardial mass with lung nodules. An ultrasound guided mediastinal/Pericardial biopsy was done, revealed a poorly differentiated small round cell carcinoma. Results: Patient expired 14 weeks from the initial onset of symptoms while awaiting immunohistochemistry studies for specific diagnosis of the tumor and oncology review. Discussion: This demonstrates the complexity of establishing differential diagnosis of MSRCT in a resource limited setting with subsequent delay in treatment initiation, heralds poor prognosis. This also confirms difficulties in establishing differential diagnosis in poorly differentiated tumor.

Desmoplastic small round cell tumor with ovarian involvement on [18F]-FDG PET/CT

Desmoplastic small round cell tumor with ovarian involvement on [18F]-FDG PET/CT

Mesenchymal tumours of the pleura: review and update.

Primary mesenchymal tumours of the pleura are uncommon and can be diagnostically challenging due to their overlapping histopathologic and immunophenotypic features. Herein we discuss selected mesenchymal tumours of the pleura, including solitary fibrous tumour, calcifying fibrous tumour, desmoid fibromatosis, synovial sarcoma, schwannoma, malignant peripheral nerve sheath tumour, inflammatory myofibroblastic tumour, follicular dendritic cell sarcoma, epithelioid hemangioendothelioma, and desmoplastic small round cell tumour. We review their clinicopathologic characteristics, along with an update on the relevant immunohistochemical and molecular features.

Ascite-solid model of prostate cancer and its morphological characteristics

Targeted therapy and immunotherapy are considered promising novel therapies capable of increasing the effcacy of prostate cancer (PCa) treatment. The purpose of the study was to obtain and characterize TRAMP-C2 subcutaneous and ascite-solid models of prostate cancer in C57Bl/6j mice to study specifc anti-tumor activity of the candidate molecules of targeted drugs and adjust immunotherapy strategies in an evidence-based manner. Material and Methods. We used cultured TRAMP-C2 cells in subcutaneous and ascites mouse prostate cancer models. Histological and immunohistochemical methods were used to study the tumor tissues. Results. The high in vivo growth ability of TRAMP-C2 cells was demonstrated in subcutaneous and intraperitoneal inoculation of C57Bl/6j mice. These tumors are characterized by a high reproducibility and level of PSMA expression. Histological study showed that subcutaneous and carcinomatous TRAMP-C2 tumor nodules had solid structure morphologically corresponding to low differentiated neoplasm, cytomorphological analysis of smears showed that peritoneal fuid containd a large number of rounded tumor cells, macrophages and erythrocytes. Conclusion. The obtained subcutaneous and ascite-solid models of TRAMP-C2 can be useful for the development of new ways to effectively treat cancer, including targeted and immunotherapy, as well as for the experimental study of biotherapeutic effects using PSMA as a target, and photoinduced effects.

Apparent Provisional Diagnosis Validated by Histopathology: 2 Case Report that mimics TB Spine Conflict of interest: There is no Conflict of interest relevant to this paper to disclose

Background: The incidence of atypical clinic-radiological presentations of spinal TB is on the upsurge. Lesions that share similar features should be evaluated thoroughly. Tissue diagnosis remains the only foolproof investigation to confirm diagnosis before initiation of treatment. Methods: We present 2 cases who were provisionally diagnosed as a case of Tubercular spondylodiscitis based on clinic-radiological findings. After failure of response from anti tubercular drugs, they underwent operative management for decompression of neural elements and histological confirmation of the provisional diagnosis. Results: Clinical features like back pain, weight loss, gait abnormalities with radiological features like Magnetic resonance imaging and GeneXpert, CT guided FNAC helps in early detection and initiation of treatment of spinal TB. But in our case, 58year old female and 13 years old male presented with clinic-radiological features consistent with Spinal TB. Histopathology and immunohistochemistry confirm that first case is due to Aspergillus Spinal Epidural Abscess (ASEA) and second case due to round blue cell neoplasm consistent with Ewings Sarcoma. Conclusion: This article highlights the importance of awareness of the different clinic-radiographic features of spinal lesions, which can mimic a Tubercular Spondylodiscitis. In order to avoid delayed diagnosis, clinicians must be aware of differential diagnosis from common to rare entity which may interfere with other clinical conditions. Bang. J Neurosurgery 2022; 12(1): 29-36

Desmoplastic Small Round Cell Tumor: Study of Cytomorphologic and Immunophenotypical Features in Eight Cases, One with Usual Rhabdoid Morphology

Desmoplastic Small Round Cell Tumor: Study of Cytomorphologic and Immunophenotypical Features in Eight Cases, One with Usual Rhabdoid Morphology

Diversity of small round cell sarcoma in soft tissues around bone among Indian patients.

Round cell tumors are a group of malignant tumors which shows overlapping microscopic features of small round monotonous cells with hyper-chromatic nucleus. It mostly occurs in children, adolescent, and young adults. The ancillary technique to confirm the differential diagnosis of round cells sarcoma is immuno-histo chemistry (IHC). Therefore, it is of interest to document the diversity of small round cell sarcoma in soft tissues around bones among Indian patients using IHC. A total of 334 cases among Indians were studied. Among them 160 cases were Non-Hodgkin's Lymphoma, 82 cases are poorly differentiated carcinoma and 92 cases of round cell sarcoma. Out of 92 cases, there were (40%) 27 cases of Wilms tumour, with the highest incidence. The highest incidence was observed in 0-14 years of age group with highest incidence in males. The distribution and diverse histology of different small round cell sarcoma offers challenge in the diagnosis by histopathology. Most frequent round cell tumour is Wilms tumour, followed by Rhabdomyosarcoma. Data shows the role of IHC in classifying soft tissue sarcoma but some time result of IHC remains inconclusive, where cytogenetic is important.

Analysis of 55 Adult Cases Surgically Treated for Pontocerebellar Angle Tumors

Objective: Pontocerebellar angle (PCA) tumors, although typically of benign nature, are of significant clinical and pathological importance. The aim of this study is to investigate the clinical and pathological characteristics of PCA tumors, as well as surgical outcomes, which hold a significant place in clinical practice. Methods: 55 adult patients who underwent surgery for PCA tumors at the Department of Neurosurgery, Dicle University Faculty of Medicine, between 2013 and 2023 were included in the study. The clinical and pathological records of these patients were retrospectively reviewed. Results: The age of the patients (17 male, 38 female) ranged from 18 to 75 years. According to pathological diagnosis, 23 cases were diagnosed as meningioma, 19 as schwannoma, 6 as epidermoid tumors, 2 as metastases, 1 as hemangioblastoma, 1 as hemangioma, 1 as medulloblastoma, 1 as neuroblastoma, and 1 as small round cell tumor. Gross total resection was achieved in all cases. Overall, 47.3% of the patients had one or more postoperative complications. Postoperative permanent facial palsy developed in 6 patients. The overall mortality rate was 9%. Conclusion: PCA tumors constitute a significant group among intracranial tumors. Surgical treatment is an important option for the management of these tumors. Primary goal of the surgery is gross total resection which is feasible in today. Though postoperative complications are common, majority of them is temporary.

Burkitt lymphoma masquerading as nasopharyngeal angiofibroma

Primary nasopharyngeal (NP) lymphoma is a very rare tumor. Burkitt lymphoma is a subtype of non-Hodgkin’s B cell lymphoma. It is rare in the Waldeyer’s ring (3-5%). It is a highly aggressive, highly chemo sensitive lymphoma seen predominantly in childhood. Presenting a unique case of an 11 year old, male child presented to us with the chief complaints of bilateral nasal obstruction since 1 month, 6-7 episodes of nasal bleed since 1 week. Radiologically, a large soft tissue density mass lesion was seen in the region of nasopharynx, extending into the para/retro pharyngeal space. Excisional biopsy of the mass lesion histopathologic evaluation was suggestive of small round blue cell tumor, later confirmed to be Burkitt lymphoma after a bone marrow biopsy. Nasopharyngeal NHL should be kept in mind as a differential diagnosis, apart from inflammatory adenoid hypertrophy and benign tumors such as JNA while evaluating a nasopharyngeal mass in children. Nasopharyngeal NHL are highly chemo sensitive, therefore, an early diagnosis can aid timely commencement of chemotherapy and prevent progression and complications of the disease.