scholarly journals RARE-58. CONGENITAL METASTATIC CHORDOMA OF THE CLIVUS

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii454-iii455
Author(s):  
Wieslawa Grajowska ◽  
Maria Stepaniuk ◽  
Joanna Trubicka ◽  
Katarzyna Wójcicka-Kowalczyk ◽  
Piotr Krych ◽  
...  
Keyword(s):  
Soft Tissue Sarcomas ◽  
Neurological Status ◽  
Pathological Examination ◽  
Small Lesion ◽  
Neoplastic Tissue ◽  
Myxoid Matrix ◽  
Skin Biopsies ◽  
Skeletal Neoplasms ◽  
Generation Sequencing ◽  
Typical Localization

Abstract Chordomas are rare midline axial skeletal neoplasms that typically present in adults. They are infrequent in childhood with typical localization in the spheno-occipital skull base. They are derived from remnants of the embryonic notochord. We present the case of 4 months old girl, who was born with „blueberry muffin” syndrome and was first negatively diagnosed for neuroblastoma and leukemia (two negative skin biopsies were performed) was admitted with axial laxity. In imaging testes there was a tumor of the scull base, metastases in the lungs and kidneys (that were not seen at previous assessments) and a small lesion in the heart. The third biopsy of skin lesion was performed and pathological examination revealed a neoplasm composed of cords, clusters, and chains of multivacuolated cells embedded within a myxoid matrix and separated by fibrous septa. No atypical and dedifferentiated features were present. Mitotic activity was not observed. Neoplastic cells showed the typical cytoplasmic immunostaining for EMA, S100 and cytokeratin AE1/AE3, strong nuclear brachyury expression, and retention of nuclear INI-1 expression. The diagnosis of chordoma was established. Neoplastic tissue and blood samples were obtained for molecular analysis using next generation sequencing, including germline mutations assessment (are ongoing). Chemotherapy as for soft tissue sarcomas was undertaken. Currently a patient is on treatment with improvement of neurological status.

scholarly journals A Rare Entity of Benign Recurring Mesenchymal Tumor of the Female Urethra

2013 ◽  
Vol 2013 ◽  
pp. 1-2
Author(s):  
Onur Telli ◽  
Haşmet Sarıcı ◽  
Berat Cem Özgür ◽  
Cem Nedim Yücetürk ◽  
Mehmet Ali Karagöz
Keyword(s):  
Lower Urinary Tract ◽  
Soft Tissue Tumor ◽  
Benign Tumor ◽  
Pathological Examination ◽  
Rare Entity ◽  
Female Urethra ◽  
Mesenchymal Tumors ◽  
Urinary Tract Symptoms ◽  
Myxoid Matrix ◽  
Lower Urinary

This is a case report of a 51-year-old female patient with benign mesenchymal tumors of paraurethral region which caused lower urinary tract symptoms. The pathological examination of the lesion was reported as angiomyxoma which is a distinct soft tissue tumor characterized by the presence of prominent myxoid matrix and numerous thin-walled blood vessels. This tumor has a predilection for the trunk, head and neck, extremities, and genitalia. It is a benign tumor, and total excision is curative. Recurrence is rare except for aggressive angiomyxomas.

scholarly journals A case report of SMARCA4/BRG1-deficient non-small cell lung cancer with a spindle cell component found by next-generation sequencing of a brain metastasis

2020 ◽  
Author(s):  
Hiroko Ikeda ◽  
Takashi Sone ◽  
Kazuo Kasahara ◽  
Satoko Nakada ◽  
Kaori Yoshimura ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Next Generation Sequencing ◽  
Spindle Cell ◽  
Small Cell ◽  
Pathological Examination ◽  
Next Generation ◽  
Small Cell Lung ◽  
Immunohistochemical Examination ◽  
The Brain ◽  
Generation Sequencing

Abstract Background: Several studies of different cancers have revealed mutations in switch/sucrose non-fermenting (SWI/SNF) complex genes. Brahma-related gene 1 (BRG1), which is encoded by SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 (SMARCA4), is a member of this complex. SMARCA4/BRG-1-deficient non-small cell lung carcinoma (NSCLC) has been considered a subset of lung cancer that has distinct clinical, pathological, and molecular characteristics, which implies its relationship with SMARCA4/BRG1-deficient thoracic sarcoma. Case presentation: We experienced a case of SMARCA4/BRG1-deficient lung cancer in a 40-year-old female patient with a history of smoking. Magnetic resonance imaging revealed a large mass in the right lung apex with an extension to the extrapulmonary region and cerebral metastasis. Histological analysis showed poorly differentiated carcinoma with spindle cell components. She was diagnosed with NSCLC (stage IV) at that point. An EGFR mutation and ALK and ROS1 rearrangement were not detected, and then treated with chemoradiotherapy. Overall, the tumors were resistant to chemotherapy, and therefore, after 2 years, the brain tumor was excised for histological and molecular analysis. Histologically, the brain mass was an undifferentiated tumor with round cells and glandular components. The mutation in SMARCA4 in the brain specimen was identified by next-generation sequencing. Immunohistochemical examination revealed a complete loss of BRG1. SMARCA4/BRG1-deficient thoracic sarcoma had been raised as a differential diagnosis, collectively, she was diagnosed with SMARCA4/BRG1-deficient NSCLC considering for the result of positivity for cytokeratin AE1/AE3 and claudin-4, and negativity for Sal-like protein 4, CD34, and SRY-box 2 by immunohistochemical examination. Regrettably, a definitive diagnosis required approximately 2 years. She is alive with disease at 30 months after the presentation. Conclusions: The diagnosis of SMARCA4/BRG1-deficient NSCLC is frequently difficult because of no specific morphology and necessity of discrimination from SMARCA4/BRG1-deficient thoracic sarcoma, which is the practical reason this disease is sometimes missed. Immunohistochemistry for BRG1 should be encouraged for the pathological examination of NSCLC with any histology for the prompt and precise diagnosis of SMARCA4/BRG1-deficient NSCLC.

scholarly journals Detection of Coccidioides posadasii in a patient with meningitis using metagenomic next-generation sequencing: a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yuqiao Mao ◽  
Xia Li ◽  
Haibo Lou ◽  
Xiaoyu Shang ◽  
Yanjun Mai ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Los Angeles ◽  
Systemic Infection ◽  
High Sensitivity ◽  
Pathological Examination ◽  
Next Generation ◽  
Coccidioides Posadasii ◽  
Dimorphic Fungi ◽  
Almost All ◽  
Generation Sequencing

Abstract Background Coccidioidomycosis is a systemic infection caused by dimorphic fungi Coccidioides spp. endemic to Southwestern United States and Central and South America. A history of residence and travel in these areas is essential for the diagnostic of coccidioidomycosis, which has highly variable symptoms ranging from asymptomatic to severe, disseminated infection, and even death. Immunocompromised patients of coccidioidomycosis experience a high risk of dissemination, chronic infection, and mortality. Meningitis is one of the most deleterious coccidioidomycosis and can cause various life-threatening complications. Case presentation Here we report a case of Coccidioides posadasii meningitis in a 49-year-old female who returned to China after one and a half years residence in Los Angeles, USA. The repeated routine cultures using CSF for bacteria or fungi were all negative. To hunt for an infectious etiology, the state-of-the-art technology metagenomic next-generation sequencing (mNGS) was then utilized, suggesting Coccidioides posadasii. Organizational pathological examination and polymerase-chain-reaction (PCR) results subsequently confirmed the mNGS detection. Conclusion To our knowledge, cases for coccidioidal meningitis have been rarely reported in China. While global travelling may spread this disease across continents and make the diagnosis more difficult. mNGS can detect almost all known pathogens with high sensitivity and specificity, especially for uncommon pathogen, such as Coccidioides posadasii in China.

scholarly journals Precision Oncology in Sarcomas: Divide and Conquer

2019 ◽  
pp. 1-16 ◽  
Author(s):  
Roberto Carmagnani Pestana ◽  
Roman Groisberg ◽  
Jason Roszik ◽  
Vivek Subbiah
Keyword(s):  
Next Generation Sequencing ◽  
Soft Tissue Sarcomas ◽  
Genetic Alterations ◽  
Divide And Conquer ◽  
Precision Oncology ◽  
Next Generation ◽  
Mesenchymal Tumors ◽  
Next Generation Sequencing Technology ◽  
Molecular Abnormalities ◽  
Generation Sequencing

Sarcomas are a heterogeneous group of rare malignancies that exhibit remarkable heterogeneity, with more than 50 subtypes recognized. Advances in next-generation sequencing technology have resulted in the discovery of genetic events in these mesenchymal tumors, which in addition to enhancing understanding of the biology, have opened up avenues for molecularly targeted therapy and immunotherapy. This review focuses on how incorporation of next-generation sequencing has affected drug development in sarcomas and strategies for optimizing precision oncology for these rare cancers. In a significant percentage of soft tissue sarcomas, which represent up to 40% of all sarcomas, specific driver molecular abnormalities have been identified. The challenge to evaluate these mutations across rare cancer subtypes requires the careful characterization of these genetic alterations to further define compelling drivers with therapeutic implications. Novel models of clinical trial design also are needed. This shift would entail sustained efforts by the sarcoma community to move from one-size-fits-all trials, in which all sarcomas are treated similarly, to divide-and-conquer subtype-specific strategies.

Primary histiocytic sarcoma of the brain mimicking cerebral abscess

2013 ◽  
Vol 12 (3) ◽  
pp. 251-257 ◽  
Author(s):  
Rami O. Almefty ◽  
Tammy L. Tyree ◽  
David J. Fusco ◽  
Stephen W. Coons ◽  
Peter Nakaji
Keyword(s):  
Inflammatory Infiltrate ◽  
Ct Scanning ◽  
Neutrophil Infiltration ◽  
Neurological Status ◽  
Histiocytic Sarcoma ◽  
Initial Presentation ◽  
Pathological Examination ◽  
Tumor Surgery ◽  
Rare Malignancy ◽  
The Brain

Histiocytic sarcoma is a rare malignancy with only 10 reports confirmed primarily involving the CNS. The diagnosis is dependent on the finding of malignant cells with histiocytic morphology and immunophenotype. The authors report a case of pathologically proven HS of the CNS. A 16-year-old boy presented with headaches, emesis, and altered sensorium. Noncontrast head CT scanning demonstrated a left parietal mass consistent with a tumor. Surgery was undertaken. Intraoperative findings revealed green-yellow exudates consistent with an abscess. Cultures were obtained and broad-spectrum antibiotics were started. The patient subsequently underwent multiple surgical procedures, including drainage and debulking of abscesses and hemicraniectomy. Two months after initial presentation, the patient's diagnosis of histiocytic sarcoma was confirmed. Pathological examination demonstrated necrotizing inflammation with preponderant neutrophil infiltration, variably atypical mononuclear and multinucleate histiocytes, and numerous mitoses. Additional immunohistochemistry studies confirmed immunoreactivity for CD68, CD45, CD45RO, and CD15 and were negative for CD3, CD20, melanoma cocktail, CD30, CD1a, CD34, HMB-45, and melan-A. Once the diagnosis of histiocytic sarcoma was confirmed, antibiotics were stopped and radiation therapy was undertaken. Despite treatment, the patient's neurological status continued to decline and the patient died 126 days after initial presentation. This case represents a rare confirmed example of CNS histiocytic sarcoma. A profound inflammatory infiltrate seen on pathology and green exudates seen intraoperatively make the condition difficult to distinguish from an abscess. Immunohistochemistry showing a histiocytic origin and negative for myeloid, dendritic, or other lymphoid markers is essential for the diagnosis. Further research is needed to establish consensus on treatment.

Molecular profiling of soft tissue sarcomas using next-generation sequencing: a pilot study toward precision therapeutics

2014 ◽  
Vol 45 (8) ◽  
pp. 1563-1571 ◽  
Author(s):  
George Jour ◽  
John D. Scarborough ◽  
Robin L. Jones ◽  
Elizabeth Loggers ◽  
Seth M. Pollack ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Pilot Study ◽  
Soft Tissue ◽  
Soft Tissue Sarcomas ◽  
Molecular Profiling ◽  
Next Generation ◽  
Generation Sequencing ◽  
Precision Therapeutics

Clinical benefit of next generation sequencing in soft tissue and bone sarcoma: Rush University Medical Center’s experience.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e22552-e22552
Author(s):  
Mia C. Weiss ◽  
Alan Blank ◽  
Steven Gitelis ◽  
Mary J. Fidler ◽  
Marta Batus
Keyword(s):  
Overall Survival ◽  
Next Generation Sequencing ◽  
Soft Tissue ◽  
Clinical Decision Making ◽  
Soft Tissue Sarcomas ◽  
Bone Sarcoma ◽  
Next Generation ◽  
Undifferentiated Sarcoma ◽  
The Impact ◽  
Generation Sequencing

e22552 Background: The overall survival for metastatic sarcoma has remained at only 18-20%. In the era of next generation sequencing (NGS), much research is ongoing on identifying optimal treatments. The MULTISARC trial aims to determine if NGS can lead to improved overall survival by randomizing patients with metastatic STS to receive NGS (followed by possible NGS-guided therapy) or not. We present our center’s experience with NGS in sarcomas patients. Methods: Patients with soft tissue and bone sarcomas at Rush that had the Foundation Medicine assay sent on tumor samples between August 2017 and August 2018 were analyzed retrospectively. The impact of NGS on clinical decision making was determined based on patients being prescribed off-label FDA-approved therapy targeting identified mutation. Results: Thirty-four patients with bone/soft tissue sarcomas that had NGS sent on specimens were identified. Median age at diagnosis: 43 (18-78 years); 18 males, 16 females. Histologic subtypes: synovial sarcoma, myxofibrosarcoma, leiomyosarcoma, chondrosarcoma, sclerosing epitheloid fibrosarcoma, PEcoma, pleomorphic undifferentiated sarcoma, MPNST, liposarcoma- well and de-differentiated, angiosarcoma, osteosarcoma. 16/34 patients had targetable mutations with approved therapies in tumor types other than sarcoma. Four of these patients had therapy changed based on NGS results, 1 patient with metastatic chondrosarcoma (PTEN mutation, everolimus added), 1 patient with metastatic liposarcoma (CDK4 mutation, palbociclib added), 1 patient with metastatic osteosarcoma (CCD1/CDK4 and a PDGFRA mutation for which palbociclib followed by imatinib was added), and 1 patient with metastatic pleomorphic undifferentiated sarcoma (CDK4 mutation, palbociclib added). Targetable mutations for which clinical trials are available were identified in 25/34 (73%) of the cases. Conclusions: NGS was readily able to identify actionable mutations in close to 50% of patients with clinical trial opportunities in close to 75%. Four patients had therapy changed as a result of NGS testing. Although our study size is small, our data show potential for the use of genomic profiling to identify actionable targets, tailor therapy, and hopefully improve outcomes. [Table: see text]

Epithelioid Hyalinizing Sarcoma With MGA-NUTM1 Fusion

2020 ◽  
Vol 154 (6) ◽  
pp. 859-866
Author(s):  
Caroline I M Underwood ◽  
Diana M Cardona ◽  
Rex C Bentley ◽  
Guomiao Shen ◽  
Xiaojun Feng ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Immunohistochemical Study ◽  
Soft Tissue Sarcomas ◽  
Soft Tissue Tumors ◽  
Molecular Testing ◽  
Molecular Alterations ◽  
Poorly Differentiated ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Objectives Soft tissue sarcomas are a group of tumors derived from the mesenchymal origin. Historically, they have been classified according to morphologic and immunohistochemical characteristics. The advent of multiplexed next-generation sequencing (NGS), specifically RNA sequencing, has modified the classification of such tumors and others by determining categorization based on molecular alterations. The NUTM1 rearrangement, previously thought to be present only in carcinomas, has recently been reported in poorly differentiated high-grade sarcomas of the soft tissue. We present the first reported case of an epithelioid hyalinizing sarcoma harboring the MGA-NUTM1 fusion in an acral site. Methods Histopathologic, immunohistochemical, and molecular testing were performed on resection tissue. Results Histologically, the tumor showed an epithelioid morphology with prominent background hyalinization. Immunohistochemically, the tumor expressed CD99 and nuclear NUT-1. By NGS the tumor harbors MGA-NUTM1 fusion. Conclusions Our findings support more extensive use of NGS for accurate sarcoma classification and identification of potential therapeutic targets. Furthermore, they corroborate the fact that NUTM1-rearranged soft tissue tumors represent a spectrum of heterogeneous morphologic entities. This case also highlights the utility of NUT-1 immunohistochemical study as a possible screening tool for NUTM1-fused sarcomas.

scholarly journals Pitfalls of improperly procured adjacent non-neoplastic tissue for somatic mutation analysis using next-generation sequencing

2016 ◽  
Vol 9 (1) ◽  
Author(s):  
Lei Wei ◽  
Antonios Papanicolau-Sengos ◽  
Song Liu ◽  
Jianmin Wang ◽  
Jeffrey M. Conroy ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Somatic Mutation ◽  
Mutation Analysis ◽  
Next Generation ◽  
Neoplastic Tissue ◽  
Generation Sequencing
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