1.Strong concordance between RNA structural and single nucleotide variants identified via next generation sequencing techniques in primary pediatric leukemia and patient-derived xenograft samples
Sonali P. BARWE ; Anilkumar GOPALAKRISNAPILLAI ; Nitin MAHAJAN ; Todd E. DRULEY ; E. Anders KOLB ; Erin L. CROWGEY
Genomics & Informatics 2020;18(1):e6-
Acute leukemia represents the most common pediatric malignancy comprising diverse subtypes with varying prognosis and treatment outcomes. New and targeted treatment options are warranted for this disease. Patient-derived xenograft (PDX) models are increasingly being used for preclinical testing of novel treatment modalities. A novel approach involving targeted error-corrected RNA sequencing using ArcherDX HemeV2 kit was employed to compare 25 primary pediatric acute leukemia samples and their corresponding PDX samples. A comparison of the primary samples and PDX samples revealed a high concordance between single nucleotide variants and gene fusions whereas other complex structural variants were not as consistent. The presence of gene fusions representing the major driver mutations at similar allelic frequencies in PDX samples compared to primary samples and over multiple passages confirms the utility of PDX models for preclinical drug testing. Characterization and tracking of these novel cryptic fusions and exonal variants in PDX models is critical in assessing response to potential new therapies.
2.Strong concordance between RNA structural and single nucleotide variants identified via next generation sequencing techniques in primary pediatric leukemia and patient-derived xenograft samples
Sonali P. BARWE ; Anilkumar GOPALAKRISNAPILLAI ; Nitin MAHAJAN ; Todd E. DRULEY ; E. Anders KOLB ; Erin L. CROWGEY
Genomics & Informatics 2020;18(1):e6-
Acute leukemia represents the most common pediatric malignancy comprising diverse subtypes with varying prognosis and treatment outcomes. New and targeted treatment options are warranted for this disease. Patient-derived xenograft (PDX) models are increasingly being used for preclinical testing of novel treatment modalities. A novel approach involving targeted error-corrected RNA sequencing using ArcherDX HemeV2 kit was employed to compare 25 primary pediatric acute leukemia samples and their corresponding PDX samples. A comparison of the primary samples and PDX samples revealed a high concordance between single nucleotide variants and gene fusions whereas other complex structural variants were not as consistent. The presence of gene fusions representing the major driver mutations at similar allelic frequencies in PDX samples compared to primary samples and over multiple passages confirms the utility of PDX models for preclinical drug testing. Characterization and tracking of these novel cryptic fusions and exonal variants in PDX models is critical in assessing response to potential new therapies.
3.Isolated Testicular Metastasis from Prostate Cancer Detected on Ga-68 PSMA PET/CT Scan
Nitin GUPTA ; Sudip DEY ; Ritu VERMA ; Ethel S. BELHO
Nuclear Medicine and Molecular Imaging 2020;54(6):319-323
Although prostate cancer can metastasize to any part of the body, isolated testicular metastasis is very rare and only few cases have been reported so far. Here we present a case of 65-year-old male patient, known case of prostate adenocarcinoma, referred for 68Ga-PSMA PET/CT scan, post radiotherapy, and androgen deprivation therapy, for rising serum PSA levels. He was found to have an isolated testicular metastasis on the scan. This report highlights the importance of 68Ga-PSMA PET-CT scan in detecting these unusual and rare sites of metastasis from prostate cancer.
4.REtrospective Multicenter INdian Study of Derivo Embolization Device (REMIND): Periprocedural Safety
Niranjan Prakash MAHAJAN ; Mudasir MUSHTAQ ; Amit BHATTI ; Sukalyan PURKAYASTHA ; Nitin DANGE ; Mathew CHERIAN ; Vipul GUPTA ; Vikram HUDED
Neurointervention 2021;16(3):232-239
Purpose:
The treatment of aneurysms with characteristics such as complex morphology, fusiform, blister-like, wide neck, or large size has been revolutionized with the introduction of flow diverters. Though flow diverters have several advantages over coiling, they also have certain important disadvantages such as the lack of immediate protection against rupture, the risk of ischemic stroke, the need for antiplatelet therapy, and long latency for complete effect. The Derivo Embolization Device (DED) is a second-generation self-expanding device that is claimed to be less thrombogenic than conventional devices. We retrospectively evaluated the periprocedural safety and risks associated with the DED across 5 centers in India.
Materials and Methods:
This is a multicentric, retrospective, observational study of DED, conducted at 5 high volume endovascular therapy centers in India from May 2018 to June 2020. Periprocedural demographic, clinical, and angiographic data were collected from a retrospective review of patient charts.
Results:
A total of 96 patients, including 56 (58.3%) females, aged between 16–80 years (60±12.7 years) harboring 106 aneurysms were studied. Seven (7.3%) were noted to harbor multiple aneurysms: 6 had 3 aneurysms each, while 1 patient had 5 aneurysms. The following aneurysm characteristics were noted: average size, 9.8±8.2 mm; average neck size, 6.9±8.5 mm; wide-necked (>4 mm), 63 (59.4%); giant (>25 mm), 8 (7.5%); and anterior circulation location, 98 (92.5%). Eighteen (17%) of these were ruptured. Additional balloon angioplasty was performed in 5 (5.2%) patients. Intraprocedural problems were encountered in 3 (3.1%), of which only 1 had clinical implications, the device fish-mouthing with stent thrombosis resulting in a malignant middle cerebral artery territory infarction. The modified Rankin scale at 3 months was worse in 1 patient.
Conclusion
DED is a newer generation flow diverter stent with a low periprocedural complication rate.