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| http://dx.doi.org/10.1136/bmj.1.5436.723-b | DOI Listing |
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A Case of Multiple Myeloma in a Patient with Birt-Hogg-Dube Syndrome.
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Department of Hematology, Institute of Medicine, University of Tsukuba, Japan.
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease caused by germline folliculin (FLCN) mutations and it is characterized by skin folliculomas, pulmonary cysts, and renal cell carcinomas (RCC). We herein report the first case of a female patient with BHDS who was diagnosed with multiple myeloma. Daratumumab-based treatment was effective, and the patient remained responsive for over three years.
View Article and Find Full Text PDFPathogenesis of Paroxysmal Nocturnal Hemoglobinuria.
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Faculty of Medicine, Institute of Medical, Pharmaceutical and Health Sciences, Kanazawa University, Kanazawa, Ishikawa, Japan.
Paroxysmal nocturnal hemoglobinuria (PNH) is a non-malignant clonal hematopoietic disorder. There are two components to the pathogenesis of PNH: (i) a mutant stem cell, (ii) expansion of the mutant clone. Component (i) is straightforward: there is almost always an inactivating somatic mutation of the X-linked gene PIGA.
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Department of Biology, Faculty of Science, Kyushu University, 744 Motooka, Nishi-ku, Fukuoka 819-0395, Japan.
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View Article and Find Full Text PDFProteogenomic characterization of molecular and cellular targets for treatment-resistant subtypes in locally advanced cervical cancers.
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We report proteogenomic analysis of locally advanced cervical cancer (LACC). Exome-seq data revealed predominant alterations of keratinization-TP53 regulation and O-glycosylation-TP53 regulation axes in squamous and adeno-LACC, respectively, compared to in early-stage cervical cancer. Integrated clustering of mRNA, protein, and phosphorylation data identified six subtypes (Sub1-6) of LACC among which Sub3, 5, and 6 showed the treatment-resistant nature with poor local recurrence-free survival.
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