Myopericytoma of the Parotid and Molecular Profiling: Report of a Rare Case and Review of the Literature

2021 ◽  
pp. 106689692110701
Author(s):  
Nicholas J. Roig ◽  
Michelle Wu ◽  
Osvaldo Hernandez ◽  
Cheng Z. Liu ◽  
Tamar C. Brandler
Keyword(s):  
Rare Case ◽  
Molecular Profiling ◽  
Review Of The Literature ◽  
Deep Lobe ◽  
Positive Identification ◽  
First Case ◽  
Concentric Pattern ◽  
Next Generation Sequencing Ngs ◽  
Slow Growing ◽  
Generation Sequencing

Myopericytomas are uncommon tumors defined by their round to spindle shaped cells often arranged in a concentric pattern of perivascular growth. They are typically well-circumscribed, nodular, slow-growing lesions that occur in the soft tissue of the extremities. Here, we present a 30-year-old female with a 2.4 cm myopericytoma occurring in the deep lobe of the parotid gland. The diagnosis was made with detailed histopathologic and immunohistochemical findings and positive identification of the specific mutation for PDGFRβ p.Asp666Lys by next generation sequencing (NGS). This is the first case report of a parotid myopericytoma with a genetic testing that shows a particular mutation that has been linked to myopericytomatosis.

scholarly journals Primary breast lymphoma: a case report and review of the literature

2017 ◽  
Vol 7 (3) ◽  
Author(s):  
Kamal E.H. Mohamed ◽  
Rusha A.E. Ali
Keyword(s):  
Breast Cancer ◽  
Rare Case ◽  
Breast Tumors ◽  
Review Of The Literature ◽  
Primary Breast Lymphoma ◽  
Breast Lymphoma ◽  
First Case ◽  
High Prevalence ◽  
Malignant Breast ◽  
Hodgkin's Lymphomas

Primary breast lymphoma (PBL) represents 0.04-0.5% of all malignant breast tumors, <1% of all patients with non-Hodgkin’s lymphomas and 1.7-2.2% of all patients with extra nodal lymphomas. Despite the high prevalence of breast cancer, primary breast lymphoma is very rare. We report a rare case of PBL, successfully treated with surgery, chemotherapy and radiotherapy. This is the first case of PBL to be reported from Sudan to our knowledge.

scholarly journals Molecular Profiling of Malignant Pleural Effusions with Next Generation Sequencing (NGS): Evidence that Supports Its Role in Cancer Management

2020 ◽  
Vol 10 (4) ◽  
pp. 206
Author(s):  
Georgia Ι. Grigoriadou ◽  
Stepan M. Esagian ◽  
Han Suk Ryu ◽  
Ilias P. Nikas
Keyword(s):  
Next Generation Sequencing ◽  
Cancer Patients ◽  
Advanced Cancer ◽  
Liquid Biopsy ◽  
Molecular Profiling ◽  
Pleural Effusions ◽  
Advanced Cancer Patients ◽  
Cancer Management ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Malignant pleural effusions (MPEs) often develop in advanced cancer patients and confer significant morbidity and mortality. In this review, we evaluated whether molecular profiling of MPEs with next generation sequencing (NGS) could have a role in cancer management, focusing on lung cancer. We reviewed and compared the diagnostic performance of pleural fluid liquid biopsy with other types of samples. When applied in MPEs, NGS may have comparable performance with corresponding tissue biopsies, yield higher DNA amount, and detect more genetic aberrations than blood-derived liquid biopsies. NGS in MPEs may also be preferable to plasma liquid biopsy in advanced cancer patients with a MPE and a paucicellular or difficult to obtain tissue/fine-needle aspiration biopsy. Of interest, post-centrifuge supernatant NGS may exhibit superior results compared to cell pellet, cell block or other materials. NGS in MPEs can also guide clinicians in tailoring established therapies and identifying therapy resistance. Evidence is still premature regarding the role of NGS in MPEs from patients with cancers other than lung. We concluded that MPE processing could provide useful prognostic and theranostic information, besides its diagnostic role.

scholarly journals A rare case of recurrent ovarian cancer with NTRK1-TPM3 gene rearrangement

2021 ◽  
Author(s):  
Yuta Endo ◽  
Takafumi Watanabe ◽  
Motonobu Saito ◽  
Katsuharu Saito ◽  
Rei Suzuki ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Gene Fusion ◽  
Rare Case ◽  
Multimodal Therapy ◽  
Gynecologic Cancer ◽  
Stage Iv ◽  
Recurrent Ovarian Cancer ◽  
Interval Debulking Surgery ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background: NTRK gene fusion is rare in gynecologic cancer. Entrectinib is a novel targeted drug which is a potent inhibitor of TRK A, B and C. Here, we present a case of recurrent ovarian cancer with NTRK1-TPM3 rearrangement, which was detected by next-generation sequencing (NGS) and treated with entrectinib. Case Presentation:A 56-year-old woman was diagnosed as having stage IV ovarian cancer due to pleural effusion. Neoadjuvant chemotherapy and interval debulking surgery followed by chemotherapy were performed. Ten months after completion of chemotherapy, the patient’s disease recurred. She was treated with multimodal therapy for recurrence. DNA-based NGS detected NTRK1-TPM3 rearrangement and entrectinib was started. However, the patient’s disease progressed despite six weeks’ administration of entrectinib, and one month after discontinuation of entrectinib, she died. After her death immunohistochemistry with a pan-Trk monoclonal antibody was performed to determine the expression of NTRK. However, immunohistochemistry was negative for NTRK.Conclusion: We presented a rare case of recurrent ovarian cancer with NTRK1-TPM3 gene fusion, in which entrectinib was not effective. While NTRK gene fusion was detected by DNA-based NGS, immunohistochemistry was negative for NTRK. Immunohistchemitory should be performed for confirmation of NTRK protein expression before entrectinib administration.

scholarly journals Utility of Whole-Genome Next-Generation Sequencing of Plasma in Identifying Opportunistic Infections in HIV/AIDS

2019 ◽  
Vol 13 (1) ◽  
pp. 7-11 ◽  
Author(s):  
Yang Zhou ◽  
Vagish Hemmige ◽  
Sudeb C. Dalai ◽  
David K. Hong ◽  
Kenneth Muldrew ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Opportunistic Infections ◽  
Case Series ◽  
Whole Genome ◽  
Next Generation ◽  
Invasive Procedures ◽  
First Case ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing ◽  
Hiv Aids

Background:AIDS-associated Opportunistic Infections (OIs) have significant morbidity and mortality and can be diagnostically challenging, requiring invasive procedures as well as a combination of culture and targeted molecular approaches.Objective:We aimed to demonstrate the clinical utility of Next-generation Sequencing (NGS) in pathogen identification; NGS is a maturing technology enabling the detection of miniscule amounts of cell-free microbial DNA from the bloodstream.Methods:We utilized a novel Next-generation Sequencing (NGS) test on plasma samples to diagnose a series of HIV-associated OIs that were diagnostically confirmed through conventional microbial testing.Results:In all cases, NGS test results were available sooner than conventional testing. This is the first case series demonstrating the utility of whole-genome NGS testing to identify OIs from plasma in HIV/AIDS patients.Conclusion:NGS approaches present a clinically-actionable, comprehensive means of diagnosing OIs and other systemic infections while avoiding the labor, expense, and delays of multiple tests and invasive procedures.

scholarly journals Two Different Strains of Severe Fever with Thrombocytopenia Syndrome Virus (SFTSV) in North and South Osaka by Phylogenetic Analysis of Evolutionary Lineage: Evidence for Independent SFTSV Transmission

Viruses ◽  
2021 ◽  
Vol 13 (2) ◽  
pp. 177
Author(s):  
Ryo Ikemori ◽  
Ikuko Aoyama ◽  
Tadahiro Sasaki ◽  
Hirono Takabayashi ◽  
Kazutoshi Morisada ◽  
...  
Keyword(s):  
Whole Genome ◽  
Evolutionary Lineage ◽  
First Case ◽  
Local Areas ◽  
Different Strains ◽  
Next Generation Sequencing Ngs ◽  
North And South ◽  
Severe Fever ◽  
Generation Sequencing ◽  
Japanese Group

Severe fever with thrombocytopenia syndrome (SFTS) is a novel tick-borne infectious disease, therefore, the information on the whole genome of the SFTS virus (SFTSV) is still limited. This study demonstrates a nearly whole genome of the SFTSV identified in Osaka in 2017 and 2018 by next-generation sequencing (NGS). The evolutionary lineage of two genotypes, C5 and J1, was identified in Osaka. The first case in Osaka belongs to suspect reassortment (L:C5, M:C5, S:C4), the other is genotype J1 (L: J1, M: J1, S: J1) according to the classification by a Japanese group. C5 was identified in China, indicating that C5 identified in this study may be transmitted by birds between China and Japan. This study revealed that different SFTSV genotypes were distributed in two local areas, suggesting the separate or focal transmission patterns in Osaka.

Fatal Case of Vulvar Pyoderma Gangrenosum with Pulmonary Involvement: Case Presentation and Literature Review

2014 ◽  
Vol 18 (6) ◽  
pp. 424-429 ◽  
Author(s):  
Joshua M. Mercer ◽  
Paul Kuzel ◽  
Muhammad N. Mahmood ◽  
Alain Brassard
Keyword(s):  
Literature Review ◽  
Pyoderma Gangrenosum ◽  
Rare Case ◽  
Fatal Case ◽  
Pulmonary Involvement ◽  
Review Of The Literature ◽  
Treatment Resistant ◽  
Case Presentation ◽  
First Case ◽  
Systemic Therapies

Introduction: We report a case of a 61-year-old woman with locally destructive vulvar pyoderma gangrenosum (PG) with pulmonary involvement who was refractory to numerous systemic therapies and developed complications resulting in her demise. Objective: To report a rare case of treatment-resistant vulvar PG with pulmonary involvement that proved to be fatal. Methods: PubMed was used to search for other reports that discuss PG, or more specifically perigenital PG, with pulmonary involvement. Results and Conclusion: A thorough review of the literature revealed 33 cases of PG with pulmonary involvement, with only 4 involving the perigenital region. We report the second case of a female with vulvar PG and pulmonary involvement. In contrast to the first case described, our patient did not respond to systemic therapy, and, ultimately, her disease was fatal. It is hoped that with continued documentation of this rare and potentially lethal presentation of PG, physicians will determine more effective treatments.

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