Publications by authors named "Shinozaki-Ushiku A"

Article Synopsis
  • The study investigates the use of comprehensive genomic profiling (CGP) in cancer treatment, aiming to improve precision medicine by identifying patient characteristics that predict successful outcomes from CGP.
  • Using machine learning on data from almost 61,000 patients in Japan, researchers developed models to predict the identification of effective therapies based on specific cancer types and age groups.
  • Results showed that 18.5% of patients had genome-matched therapies identified, with significant predictors including cancer type, age, and presence of liver metastasis, highlighting factors that could guide future applications of CGP in clinical practice.
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  • * In a study of 569 patients treated with SRS, only one case of RIM (gliosarcoma) was found, leading to a very low overall incidence rate of 0.12 per 1,000 patient-years over a long follow-up period (average of 12.5 years).
  • * A systematic review of 14 studies indicated RIM incidence rates between 0.00% and 0.24%, with glioblastoma being
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  • Scientists are using special tests called cancer genomic profiling to find the best treatments for lung cancer.
  • In a study, they looked at 60 lung cancer samples and found many important genetic changes that could help target therapy.
  • The tests showed they could identify new gene fusions and other mutations that might help doctors choose the right drugs for patients.
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Trastuzumab deruxtecan (T-DXd) has demonstrated remarkable efficacy as a third- or later-line chemotherapy for human epidermal growth factor receptor 2 (HER2)-positive advanced gastric and gastroesophageal junction adenocarcinomas. However, it may cause pneumonitis, and its efficacy in rare histologies such as gastric adenocarcinoma with enteroblastic differentiation (GAED) remains unclear. A 74-year-old woman with unresectable HER2-positive GAED and lung metastasis received T-DXd as a fifth-line chemotherapy.

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CD5 diffuse large B-cell lymphoma (DLBCL) is a rare subtype characterized by an inferior outcome. While dose-dense therapy shows promising activity, the optimal management remains to be determined. To evaluate the benefit of consolidative autologous hematopoietic stem cell transplantation (ASCT), we retrospectively reviewed the medical records of 47 consecutive patients with newly diagnosed de novo CD5 DLBCL.

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Macrophages contribute to post-transplant lung rejection. Disulfiram (DSF), an anti-alcoholic drug, has an anti-inflammatory effect and regulates macrophage chemotactic activity. Here, we investigated DSF efficacy in suppressing acute rejection post-lung transplantation.

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  • The study evaluated the use of endoscopic ultrasound-guided tissue acquisition (EUS-TA) with a 22-gauge Franseen needle for collecting tissue samples from solid tumors, focusing on its application in comprehensive genomic profiling (CGP) tests, especially for pancreatobiliary cancer.
  • A total of 50 patients were analyzed, showing that the success rates for obtaining suitable samples for CGP were 86% and 76% through two quality control checks, with an adverse event rate of 4%.
  • The findings indicated that while EUS-TA using this method is feasible, a significant portion of the specimens did not meet CGP criteria, raising questions about sample adequacy for genomic analysis despite successful tests.
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Malignant giant cell tumor of bone (GCTB) is identified by the presence of multinucleated giant cells, with an aggressive behavior and a high risk of metastasis, which has not been genetically characterized in detail. H3 histone family member 3A () gene mutations are highly recurrent and specific in GCTB. The present study analyzed the clinical information and genomic sequencing data of eight cases of malignant GCTB (out of 384 bone sarcoma samples) using an anonymized genomic database.

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Background: Acinic cell carcinomas (AcCCs), rare malignancies of the salivary glands, often recur and metastasize, particularly in the skull base. Conventional radical resection can be invasive for skull base AcCCs adjacent to cranial nerves and major vasculature, and the effectiveness of stereotactic radiosurgery (SRS) as an alternative is not well established.

Observations: This case report details the application of SRS for recurrent skull base AcCCs.

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Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by a mutation in either of the two tumor suppressor genes, and . Due to dysregulated activity of the mammalian target of rapamycin (mTOR) pathway, hamartomas or benign tumors frequently occur in many organs and are often treated with mTOR inhibitors. Hemihypertrophy is a rare complication of TSC.

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  • The study investigates how the quality of nucleic acids from formalin-fixed paraffin-embedded (FFPE) tumors influences the outcomes of cancer genomic profiling tests, focusing on variations across hospitals and cancer types.
  • Three quality metrics for nucleic acids (ddCq, Q-value, DV200) and five metrics for sequencing quality were analyzed using 585 samples from a dual DNA-RNA panel.
  • Results showed notable differences in DNA quality among hospitals and cancer types, impacting sequencing depth and uniformity, while RNA quality remained consistent; further research is needed on factors influencing these variations in cancer profiling tests.*
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Purpose: This study investigated whether Ki-67 labeling index (LI) correlated with clinical outcomes after SRS for atypical meningiomas.

Methods: This retrospective study examined 39 patients with atypical meningiomas who underwent SRS over a 10-year study period. Ki-67 LI was categorized into 3 groups: low (< 5%), intermediate (5%-10%), and high (> 10%).

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Article Synopsis
  • In Japan, comprehensive genomic profiling (CGP) tests for solid cancer patients have been available through the national health care system, with over 50,000 patients tested since mid-2019.
  • A nationwide survey revealed that while most patients learned about CGP tests from healthcare professionals and found the explanations clear, many were concerned about the results not leading to new treatments.
  • Overall satisfaction with the CGP process was high, but improvements in access to information and treatment options based on genomic data are needed for better patient outcomes.*
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  • Researchers have learned a lot about meningiomas (a type of brain tumor), but there still isn't a specific treatment that targets their genetic make-up.
  • A recent case showed that even with advanced genetic testing, no targeted therapies were found to effectively treat the tumor's aggressive changes.
  • More studies are needed to understand the genetics of meningiomas better and create treatments that directly target these genetic changes.
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Background: High-grade fetal adenocarcinoma of the lung (H-FLAC) is a rare variant of pulmonary adenocarcinoma. Our previous study showed a high frequency of KMT2C mutations in lung cancers with an H-FLAC component, showing that KMT2C dysfunction may be associated with the biological features of H-FLACs.

Methods: In this study, we performed RNA sequencing and immunohistochemical analysis to identify the differentially expressed genes and corresponding pathways associated with H-FLACs, compared with common adenocarcinomas.

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Article Synopsis
  • * BRAF mutations were found in 1.2% of patients, with BRAF V600E being present in 0.6%, non-V600E mutations in 4.6%, and BRAF fusions in 0.2%; concurrent gene alterations like CDKN2A were also common.
  • * The study highlights the rarity of BRAF alterations in advanced STS, while identifying potential clinical characteristics and treatment strategies for patients with these mutations, notably in relation to
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Article Synopsis
  • Comprehensive genomic profiling (CGP) tests have been available in Japan since June 2019, with over 46,000 patients tested, but they require significant administrative time, averaging 7.6 hours per test.
  • Physicians spend an average of 2.7 hours and nonphysicians 4.9 hours on administrative tasks per patient, with the highest burden from preparing and participating in molecular tumor boards.
  • Core Hospitals incur the highest monthly labor costs (¥3.95 million) compared to Designated and Cooperative Hospitals, emphasizing the need to streamline processes to reduce the administrative workload.
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  • - Polymorphous adenocarcinomas (PACs) are uncommon tumors that develop in the salivary glands, and traditional treatments involve surgery and radiation, but complete removal can be difficult when they invade the skull base.
  • - A 70-year-old man experienced symptoms from a recurring PAC that had spread to the right cavernous sinus, and he underwent stereotactic radiosurgery (SRS) with successful tumor control and symptom relief for over four years.
  • - This case highlights the potential of SRS as a viable treatment option for skull base PACs, marking the first reported successful use of this method for such a recurrence.
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An 86-year-old woman presented with chronic cough and chest pain. Computed tomography revealed two masses in the right lower lobe of the lung accompanied by multiple lymphadenopathies and metastasis to the rib. The pro-gastrin-releasing peptide (ProGRP) levels were notably elevated (888 pg/mL).

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In recent years, thoracoscopic and robotic surgical procedures have increasingly replaced median sternotomy for thymoma and thymic carcinoma. In cases of partial thymectomy, the prognosis is greatly improved by ensuring a sufficient margin from the tumor, and therefore intraoperative fluorescent imaging of the tumor is especially valuable in thoracoscopic and robotic surgery, where tactile information is not available. γ-Glutamyl hydroxymethyl rhodamine green (gGlu-HMRG) has been applied for fluorescence imaging of some types of tumors in the resected tissues, and here we aimed to examine its validity for the imaging of thymoma and thymic carcinoma.

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Colonic metastasis from ovarian cancer is extremely rare, with only seven reported cases. A 77-year-old woman who had previously undergone surgery for ovarian cancer was admitted to a local hospital with anal bleeding. Histopathological analysis confirmed the presence of adenocarcinoma.

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Epstein-Barr virus (EBV) is one of the major drivers of gastric carcinogenesis. EBV infection is established before tumour initiation and is generally maintained throughout tumour development; however, the significance of EBV in tumour maintenance and progression remains to be elucidated. Here, we report eight cases of EBV-associated gastric carcinoma (EBVaGC) with intratumoural heterogenous expression of EBV-encoded small RNA (EBER), a highly expressed latent gene of EBV, and demonstrate clinicopathological characteristics of these rare cases.

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Background: A muco-submucosal elongated polyp is a non-neoplastic growth composed of mucosa and submucosa. Although muco-submucosal elongated polyps are commonly reported in the large intestine, they are rare in the small intestine, in which they are called enteric muco-submucosal elongated polyps. We herein present a case of jejunal intussusception and perforation due to an enteric muco-submucosal elongated polyp.

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Comprehensive cancer genome profiling (CGP) has been nationally reimbursed in Japan since June 2019. Less than 10% of the patients have been reported to undergo recommended treatment. Todai OncoPanel (TOP) is a dual DNA-RNA panel as well as a paired tumor-normal matched test.

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Background: Adenoid cystic carcinoma (ACC) is an uncommon salivary gland tumor with a relatively favorable prognosis. However, treating ACC is potentially challenging because radical resection is usually difficult once the skull base is involved due to the adjacent critical structures. Stereotactic radiosurgery (SRS) is a less invasive alternative for surgically recalcitrant lesions.

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