Intraarticular Inflammatory Myofibroblastic Tumor of the Left Knee With ALK-CARS Fusion Detected With Archer Fusionplex Sarcoma NGS Panel: Case Report and Literature Review

2020 ◽  
pp. 106689692093777
Author(s):  
Janet Pineda-Díaz ◽  
Irit Solar ◽  
Dov Hershkovitz ◽  
Ido Drukman ◽  
Osnat Sher
Keyword(s):  
Differential Diagnosis ◽  
Next Generation Sequencing ◽  
Inflammatory Myofibroblastic Tumor ◽  
Left Knee ◽  
Added Value ◽  
Nodular Fasciitis ◽  
Next Generation ◽  
Biological Potential ◽  
Orthopedic Oncology ◽  
Generation Sequencing

Inflammatory myofibroblastic tumor (IMT) is a lesion of intermediate biological potential with local recurrences and rare metastases found in multiple anatomical locations. We present a case of a pure intraarticular IMT of the knee, a location that has not been previously documented, with genetic confirmation of ALK-CARS fusion detected with next-generation sequencing. A 20-year-old healthy male was admitted to the orthopedic oncology department due to several months of pain and restriction in movement of his left knee. On magnetic resonance imaging, multiple intraarticular nodular lesions were seen. The patient underwent 2 synovectomies within the course of 1 year. The initial biopsy was interpreted as nodular fasciitis. The second biopsy revealed exuberant tissue displaying compact fascicles of spindle cells intermixed with myxoid areas in a background of inflammatory cells, highly suggestive for IMT. Due to the unusual intraarticular location, equivocal ALK immunostaining and the differential diagnosis with nodular fasciitis, we performed targeted next-generation sequencing using Archer FusionPlex Sarcoma panel, which can identify multiple fusions in a single assay. An ALK-CARS fusion was found, supporting the diagnosis of IMT. This report emphasizes the added value of broad molecular analysis in cases with unusual clinical presentation, equivocal immunohistochemistry, and a wide differential diagnosis.

Combined biochemical and targeted-next generation sequencing panel for differential diagnosis of inherited myopathies

2020 ◽  
Vol 129 (2) ◽  
pp. S85
Author(s):  
David C. Kasper ◽  
Thomas P. Mechtler ◽  
Petra Oliva ◽  
Markus Schwarz ◽  
Thomas Wiesinger ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Targeted Next Generation Sequencing ◽  
Generation Sequencing

scholarly journals Case Report: About a Case of Hyperammonemia Syndrome Following Lung Transplantation: Could Metagenomic Next-Generation Sequencing Improve the Clinical Management?

2021 ◽  
Vol 8 ◽  
Author(s):  
Charlotte Michel ◽  
Michela Raimo ◽  
Vladimir Lazarevic ◽  
Nadia Gaïa ◽  
Nina Leduc ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Antibiotic Therapy ◽  
Lung Transplantation ◽  
Bacterial Culture ◽  
Opportunistic Infections ◽  
Ureaplasma Urealyticum ◽  
Added Value ◽  
Next Generation ◽  
Positive Bacterial Culture ◽  
Generation Sequencing

Background:Mycoplasma hominis and Ureaplasma spp. are responsible for opportunistic infections in transplant patients, sometimes causing a life-threatening hyperammonemia syndrome. Both pathogens are not identified with standard microbiology techniques, resulting in missed or delayed diagnosis. We present a clinical case that illustrates the added value that next-generation sequencing (NGS) may offer in the diagnosis of respiratory infections in immune-compromised patients.Results: A 55 years-old man with idiopathic pulmonary fibrosis underwent double lung transplantation. He received antibiotic prophylaxis with piperacillin-tazobactam and azythromycin. At day 4 post-transplantation (PTx), the patient presented an acute respiratory distress. A broncho-alveolar lavage (BAL) was performed. At day 5 PTx, the patient presented a status epilepticus due to diffuse cerebral oedema. Serum ammonia concentration was 661 μg/dL. BAL bacterial culture was negative. Because of the clinical presentation, special cultures were performed and identified 100.000 CFU/mL of M. hominis and Ureaplasma spp. and specific PCRs were positive for M. hominis and Ureaplasma parvum. Antibiotic therapy was shifted to therapeutic dose of azithromycin and doxycycline; within 48 h ammonia serum concentrations returned to normal but the coma persisted several weeks, followed by a persistent frontal lobe syndrome. A follow-up BAL was performed on day 11 Ptx. The Mycoplasma/Ureaplasma culture was negative, yet the specific PCRs remained positive. Bacterial culture found 100 CFU/mL of Staphylococcus aureus and viral culture was positive for Herpes Simplex Virus-1. These results were confirmed by metagenomic next-generation sequencing (mNGS). In the bacterial fraction, the majority of reads belonged to Corynebacterium propinquum (34.7%), S. aureus (24.1%) and Staphylococcus epidermidis (17.1%). Reads assigned to M. hominis, Ureaplasma urealyticum and parvum represented 0.71, 0.13, and 0.04% of the bacterial fraction and corresponded to 6.9 × 103, 9.7 × 102, and 3.7 × 102 genome equivalents per mL of BAL fluid, respectively. These results are in favor of a cure of the atypical infection.Conclusions: mNGS offered added diagnostic and quantitative values compared to PCR tests, which can remain positive after resolved infections. The initiation of appropriate antibiotic therapy would have occurred earlier on, possibly resulting in a better clinical outcome if mNGS had been performed in a routine fashion.

Differential diagnosis of pulmonary enteric adenocarcinoma (PEAC) with the assistance of next generation sequencing.

2018 ◽  
Vol 36 (15_suppl) ◽  
pp. e20537-e20537
Author(s):  
Jie Zhang ◽  
Keke Yu ◽  
Han Han-Zhang ◽  
Chan Xiang ◽  
Yuchen Han ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Coinfections of Zika and Chikungunya Viruses in Bahia, Brazil, Identified by Metagenomic Next-Generation Sequencing

2016 ◽  
Vol 54 (9) ◽  
pp. 2348-2353 ◽  
Author(s):  
Silvia I. Sardi ◽  
Sneha Somasekar ◽  
Samia N. Naccache ◽  
Antonio C. Bandeira ◽  
Laura B. Tauro ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Next Generation Sequencing ◽  
Chikungunya Virus ◽  
Clinical Presentation ◽  
Febrile Illness ◽  
Acute Febrile Illness ◽  
Next Generation ◽  
Zikv Infection ◽  
Viral Pathogens ◽  
Generation Sequencing

Metagenomic next-generation sequencing (mNGS) of samples from 15 patients with documented Zika virus (ZIKV) infection in Bahia, Brazil, from April 2015 to January 2016 identified coinfections with chikungunya virus (CHIKV) in 2 of 15 ZIKV-positive cases by PCR (13.3%). While generally nonspecific, the clinical presentation corresponding to these two CHIKV/ZIKV coinfections reflected infection by the virus present at a higher titer. Aside from CHIKV and ZIKV, coinfections of other viral pathogens were not detected. The mNGS approach is promising for differential diagnosis of acute febrile illness and identification of coinfections, although targeted arbovirus screening may be sufficient in the current ZIKV outbreak setting.

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