Medical Molecular Morphology最新文献_第7页

Invasive pulmonary aspergillosis with candidiasis: usefulness of molecular and ultrastructural morphological analysis on FFPE tissue for invasive fungal infections. 侵袭性肺曲霉病伴念珠菌病:FFPE组织分子和超微结构形态学分析对侵袭性真菌感染的意义。

IF 1.8 4区医学

Medical Molecular Morphology Pub Date : 2023-06-01 DOI: 10.1007/s00795-023-00349-w

Yusaku Kubota, Akira Takasawa, Yusuke Ono, Tomoyuki Aoyama, Kumi Takasawa, Akinori Tada, Kazufumi Magara, Taro Murakami, Fuminori Daimon, Soh Yamamoto, Shota Sato, Yutaro Hiratsuka, Daisuke Kyuno, Makoto Osanai

{"title":"Invasive pulmonary aspergillosis with candidiasis: usefulness of molecular and ultrastructural morphological analysis on FFPE tissue for invasive fungal infections.","authors":"Yusaku Kubota, Akira Takasawa, Yusuke Ono, Tomoyuki Aoyama, Kumi Takasawa, Akinori Tada, Kazufumi Magara, Taro Murakami, Fuminori Daimon, Soh Yamamoto, Shota Sato, Yutaro Hiratsuka, Daisuke Kyuno, Makoto Osanai","doi":"10.1007/s00795-023-00349-w","DOIUrl":"https://doi.org/10.1007/s00795-023-00349-w","url":null,"abstract":"Invasive pulmonary aspergillosis (IPA) is one of the most frequent forms of invasive fungal infections (IFI); however, it is often difficult to identify the pathogenic fungal species and to select appropriate treatments for patients with IFI including IPA. Here, we describe the detailed pathophysiology of an autopsy case of severe respiratory failure due to IPA with candidiasis. The patient developed severe respiratory failure after influenza infection and died, and the autopsy revealed a mixed disease of IPA with candidiasis. In this study, in addition to the routine pathological examination, we further examined formalin-fixed paraffin-embedded (FFPE) tissues by scanning electron microscopy (SEM) and partial genomic DNA sequencing. Although optical microscopy alone was insufficient to identify the pathogenic organisms, SEM clearly depicted the characteristic morphology of Aspergillus sp. and Candida sp. as closely overlapping in a nested fashion, providing evidence of mixed infection of both fungal species in a focal site. The technique using FFPE tissue in combination with ultrastructural observation by SEM, elemental analysis by SEM-EDX, and DNA sequencing is promising for analyzing the pathophysiology of IFI.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9940076/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9477109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Gemcitabine alters sialic acid binding of the glycocalyx and induces inflammatory cytokine production in cultured endothelial cells. 吉西他滨改变唾液酸与糖萼的结合，诱导内皮细胞产生炎性细胞因子。

IF 1.8 4区医学

Medical Molecular Morphology Pub Date : 2023-06-01 DOI: 10.1007/s00795-022-00347-4

Mariko Gunji, Chika Sawa, Minako Akiyama, Shumpei Mukai, Takashi Takaki, Dedong Kang, Kazuho Honda

{"title":"Gemcitabine alters sialic acid binding of the glycocalyx and induces inflammatory cytokine production in cultured endothelial cells.","authors":"Mariko Gunji, Chika Sawa, Minako Akiyama, Shumpei Mukai, Takashi Takaki, Dedong Kang, Kazuho Honda","doi":"10.1007/s00795-022-00347-4","DOIUrl":"https://doi.org/10.1007/s00795-022-00347-4","url":null,"abstract":"Gemcitabine (GEM) is an anticancer drug inhibiting DNA synthesis. Glomerular thrombotic microangiopathy (TMA) has been reported as an adverse effect. However, the precise mechanism of GEM-induced endothelial injury remains unknown. Cultured human umbilical vein endothelial cells (HUVECs) in the confluent phase were exposed to GEM (5-100 μM) for 48 h and evaluated cell viability and morphology, lectin binding concerning sialic acid of endothelial glycocalyx (GCX), and immunofluorescent staining of platelet-endothelial cell adhesion molecule (PECAM) and vascular endothelial growth factor receptor 2 (VEGFR2). The mRNA expression of α2,6-sialyltransferase (ST6Gal1), sialidase (neuraminidase-1: NEU-1), and interleukin (IL)-1β and IL-6 was also evaluated. GEM exposure at 5 μM induced cellular shrinkage and intercellular dissociation, accompanied by slight attenuation of PECAM and VEGFR2 immunostaining, although cell viability was still preserved. At this concentration, lectin binding showed a reduction of terminal sialic acids in endothelial GCX, probably associated with reduced ST6Gal1 mRNA expression. IL-1β and IL-6 mRNA expression was significantly increased after GEM exposure. GEM reduced terminal sialic acids in endothelial GCX through mRNA suppression of ST6Gal1 and induced inflammatory cytokine production in HUVECs. This phenomenon could be associated with the mechanism of GEM-induced TMA.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9828377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9481939","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Effects of stretching on the basement membrane structure in the soleus muscle of Wistar rats. 拉伸对Wistar大鼠比目鱼肌基底膜结构的影响。

IF 1.8 4区医学

Medical Molecular Morphology Pub Date : 2023-03-01 Epub Date: 2022-09-15 DOI: 10.1007/s00795-022-00335-8

Yuji Kanazawa, Tatsuo Takahashi, Takashi Higuchi, Ryo Miyachi, Mamoru Nagano, Satoshi Koinuma, Yasufumi Shigeyoshi

{"title":"Effects of stretching on the basement membrane structure in the soleus muscle of Wistar rats.","authors":"Yuji Kanazawa, Tatsuo Takahashi, Takashi Higuchi, Ryo Miyachi, Mamoru Nagano, Satoshi Koinuma, Yasufumi Shigeyoshi","doi":"10.1007/s00795-022-00335-8","DOIUrl":"10.1007/s00795-022-00335-8","url":null,"abstract":"The basement membrane (BM), mainly composed of collagen IV, plays an important role in the maintenance, protection, and recovery of muscle fibers. Collagen IV expression is maintained by the balance between synthetic and degradative factors, which changes depending on the level of muscle activity. For example, exercise increases collagen IV synthesis, whereas inactivity decreases collagen IV synthesis. However, the effects of stretching on the BM structure remain unclear. Therefore, to investigate the effects of stretching on the BM of the skeletal muscle, we continuously applied stretching to the rat soleus muscle and examined the altered expression of BM-related factors and structure using quantitative polymerase chain reaction (qPCR), western blotting, zymography, immunohistochemistry, and electron microscopy. The results show that stretching increased the matrix metalloproteinase 14 (MMP14) expression and MMP2 activity, and decreased the collagen IV expression and width of the lamina densa in the soleus muscle. These results suggest that stretching promotes BM degradation in the rat soleus muscle. The findings of this study indicate a new influence of stretching on skeletal muscles, and may contribute to the new use of stretching in rehabilitation and sports fields.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10759945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Usefulness of SynCAM3 and cyclin D1 immunohistochemistry in distinguishing superficial CD34-positive fibroblastic tumor from its histological mimics. SynCAM3和细胞周期蛋白D1免疫组化在区分浅表cd34阳性纤维母细胞肿瘤及其组织模拟物中的作用。

IF 1.8 4区医学

Medical Molecular Morphology Pub Date : 2023-03-01 DOI: 10.1007/s00795-022-00341-w

Shintaro Sugita, Tomoko Takenami, Tomomi Kido, Tomoyuki Aoyama, Michiko Hosaka, Keiko Segawa, Taro Sugawara, Hiromi Fujita, Yasutaka Murahashi, Makoto Emori, Atsushi Tsuyuki, Tadashi Hasegawa

{"title":"Usefulness of SynCAM3 and cyclin D1 immunohistochemistry in distinguishing superficial CD34-positive fibroblastic tumor from its histological mimics.","authors":"Shintaro Sugita, Tomoko Takenami, Tomomi Kido, Tomoyuki Aoyama, Michiko Hosaka, Keiko Segawa, Taro Sugawara, Hiromi Fujita, Yasutaka Murahashi, Makoto Emori, Atsushi Tsuyuki, Tadashi Hasegawa","doi":"10.1007/s00795-022-00341-w","DOIUrl":"https://doi.org/10.1007/s00795-022-00341-w","url":null,"abstract":"Superficial CD34-positive fibroblastic tumor (SCPFT) is a fibroblastic/myofibroblastic soft tissue tumor of rarely metastasizing intermediate malignancy. Some recent studies have described a relationship between SCPFT and PRDM10-rearranged soft tissue tumor (PRT) based on SynCAM3 and PRDM10 expression on immunohistochemistry. We performed CD34, cytokeratin AE1/AE3, SynCAM3, and PRDM10 immunohistochemistry in SCPFT and its histological mimics, including myxoinflammatory fibroblastic sarcoma (MIFS), superficially localized myxofibrosarcoma (MFS), and undifferentiated pleomorphic sarcoma. We also examined cyclin D1 expression because it is expressed in MIFS and MFS. We conducted fluorescence in situ hybridization (FISH) of PRDM10 rearrangement in SCPFT cases. On immunohistochemistry, only SCPFT showed strong and diffuse SynCAM3 expression. SCPFT also exhibited strong nuclear and weak cytoplasmic cyclin D1 expression, which was similar to that observed in MIFS. Two of five SCPFT cases exhibited nuclear PRDM10 expression. FISH revealed PRDM10 split signals in 44% and 24% of tumor cells in two SCPFT cases showing nuclear PRDM10 expression on immunohistochemistry, respectively. A minority of non-SCPFT cases showed focal SynCAM3 expression, but a combination of SynCAM3 and cyclin D1 in addition to CD34 and cytokeratin AE1/AE3 may be useful for the differential diagnosis of SCPFT and its histological mimics.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10757289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Predictive value of an exosomal microRNA-based signature for tumor immunity in cervical cancer patients treated with chemoradiotherapy. 基于外泌体微rna的肿瘤免疫信号在化疗宫颈癌患者中的预测价值

IF 1.8 4区医学

Medical Molecular Morphology Pub Date : 2023-03-01 DOI: 10.1007/s00795-022-00338-5

Masanori Someya, Tomokazu Hasegawa, Takaaki Tsuchiya, Mio Kitagawa, Yuki Fukushima, Toshio Gocho, Shoh Mafune, Yutaro Ikeuchi, Yoh Kozuka, Masashi Idogawa, Yoshihiko Hirohashi, Toshihiko Torigoe, Masahiro Iwasaki, Motoki Matsuura, Tsuyoshi Saito, Koh-Ichi Sakata

{"title":"Predictive value of an exosomal microRNA-based signature for tumor immunity in cervical cancer patients treated with chemoradiotherapy.","authors":"Masanori Someya, Tomokazu Hasegawa, Takaaki Tsuchiya, Mio Kitagawa, Yuki Fukushima, Toshio Gocho, Shoh Mafune, Yutaro Ikeuchi, Yoh Kozuka, Masashi Idogawa, Yoshihiko Hirohashi, Toshihiko Torigoe, Masahiro Iwasaki, Motoki Matsuura, Tsuyoshi Saito, Koh-Ichi Sakata","doi":"10.1007/s00795-022-00338-5","DOIUrl":"https://doi.org/10.1007/s00795-022-00338-5","url":null,"abstract":"Resistance of cervical cancer to radiotherapy with concurrent chemotherapy (CCRT) results in a poor prognosis. To identify new biomarkers for predicting the treatment response and prognosis, we explored exosomal microRNA (miRNA) expression signatures associated with the outcome of cervical cancer patients treated with CCRT. Exosomes were isolated from the plasma of 45 patients prior to CCRT during 2014-2020, and miRNA analysis was performed by next-generation sequencing. At a median follow-up of 38 months, 26 patients were recurrence free, 15 patients had died of the disease, and 4 patients received salvage chemotherapy due to distant metastasis. Of the 2522 miRNAs detected, 9 (miR-148a-5p, 1915-3p, 3960, 183-5p, 196b-5p, 200c-3p, 182-5p, 374a-5p, and 431-5p) showed differential expression between the recurrence-free and recurrence groups. Patients were divided into high- and low-risk groups according to the cutoff of the miRNAs-based risk score calculated from respective expression levels. The high-risk group had significantly worse disease-specific survival than the low-risk group (p < 0.001). In addition, miR-374a-5p and miR-431-5p expression showed a weak inverse correlation with tumor-infiltrating CD8+ and FOXP3+ T cells, suggesting a potential inhibitory effect on CCRT by suppressing tumor immunity. This miRNA signature could improve non-invasive monitoring and personalized treatment for cervical cancer.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10760495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Pathological features of biopsied myocardium in patients clinically diagnosed with peripartum cardiomyopathy. 临床诊断为围产期心肌病患者的活检心肌病理特征。

IF 1.8 4区医学

Medical Molecular Morphology Pub Date : 2023-03-01 DOI: 10.1007/s00795-022-00340-x

Hiroaki Kawano, Koichi Kawamura, Mitsuaki Ishijima, Kuniko Abe, Tomayoshi Hayashi, Masamichi Eguchi, Kiyonori Miura, Koji Maemura

引用次数: 0

Retinoic acid metabolism in cancer: potential feasibility of retinoic acid metabolism blocking therapy. 维甲酸在癌症中的代谢:维甲酸代谢阻断疗法的潜在可行性。

IF 1.8 4区医学

Medical Molecular Morphology Pub Date : 2023-03-01 Epub Date: 2023-01-02 DOI: 10.1007/s00795-022-00345-6

Makoto Osanai, Akira Takasawa, Kumi Takasawa, Daisuke Kyuno, Yusuke Ono, Kazufumi Magara

{"title":"Retinoic acid metabolism in cancer: potential feasibility of retinoic acid metabolism blocking therapy.","authors":"Makoto Osanai, Akira Takasawa, Kumi Takasawa, Daisuke Kyuno, Yusuke Ono, Kazufumi Magara","doi":"10.1007/s00795-022-00345-6","DOIUrl":"10.1007/s00795-022-00345-6","url":null,"abstract":"Retinoic acid (RA) is an active metabolite of vitamin A, which is an essential signaling molecule involved in cell fate decisions, such as differentiation, proliferation, and apoptosis, in a wide variety of cell types. Accumulated data have demonstrated that expression of RA-metabolizing enzymes, CYP26A1, B1, and C1 (cytochrome P450, family 26A1, B1, and C1, respectively), protects cells and tissues from exposure to RA through restriction of RA access to transcriptional machinery by converting RA to rapidly excreted derivatives. CYP26 enzymes play similar but separate roles in limiting the consequences of fluctuations in nutritional vitamin A. Recently, we found that RA depletion caused by expression of CYP26A1 promotes malignant behaviors of tumor cells derived from various tissues, implicating CYP26A1 as a candidate oncogene. We also showed that the expression levels of CYP26 enzymes are elevated in various types of cancer. We have provided evidence for oncogenic and cell survival properties of CYP26 enzymes, indicating that these molecules are possible therapeutic targets for CYP26-expressing malignancies.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9325160","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Development of immunohistochemistry for detecting fluvoxamine in rat tissues using newly prepared monoclonal antibody: its precise localization in small intestine, kidney, and liver of rats. 利用新制备的单克隆抗体检测大鼠组织中氟伏沙明的免疫组织化学进展:在大鼠小肠、肾脏和肝脏中的精确定位。

IF 1.8 4区医学

Medical Molecular Morphology Pub Date : 2023-03-01 DOI: 10.1007/s00795-022-00337-6

Masashi Shin, Yutaro Yamamoto, Hiroto Kataoka, Tetsuya Saita

{"title":"Development of immunohistochemistry for detecting fluvoxamine in rat tissues using newly prepared monoclonal antibody: its precise localization in small intestine, kidney, and liver of rats.","authors":"Masashi Shin, Yutaro Yamamoto, Hiroto Kataoka, Tetsuya Saita","doi":"10.1007/s00795-022-00337-6","DOIUrl":"https://doi.org/10.1007/s00795-022-00337-6","url":null,"abstract":"A monoclonal antibody (mAb) was produced against a fluvoxamine (FLV)-bovine serum albumin conjugate that was specific to both the conjugate and free form of FLV. The mAb enabled us to develop an immunohistochemistry (IHC) method for pharmacokinetic analysis of FLV at the cell and tissue levels. We demonstrated that IHC can be used to detect the localization of FLV in the small intestine, kidney, and liver 1 h after drug administration at the cell and tissue levels. Protease digestion is an important factor for obtaining appropriate IHC staining results for localization of drugs. In this study, precise FLV localization could be determined with only 1 h of protease digestion in the kidneys, but in the small intestine and liver, the staining results with two digestive conditions had to be merged. IHC provided new findings, such as (1) nerve cells are likely to uptake more FLV than other cells and tissues; (2) the ability of reabsorption and secretion in the kidney varies depending on the site, and the amount of FLV in the primary urine is regulated downstream of the proximal tubule S3 segment; and (3) some of the FLV is excreted in the bile.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552737/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10749451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Immunohistochemical and molecular analysis of an α-fetoprotein-producing cervical adenocarcinoma with clear cell morphology. 1例细胞形态清晰的α-胎蛋白子宫颈腺癌的免疫组织化学和分子分析。

IF 1.8 4区医学

Medical Molecular Morphology Pub Date : 2023-03-01 DOI: 10.1007/s00795-022-00336-7

Shu Kuriyama, Mitsutake Yano, Takahiro Kusaba, Sumika Zaitsu, Haruto Nishida, Masanori Yasuda, Kaei Nasu

{"title":"Immunohistochemical and molecular analysis of an α-fetoprotein-producing cervical adenocarcinoma with clear cell morphology.","authors":"Shu Kuriyama, Mitsutake Yano, Takahiro Kusaba, Sumika Zaitsu, Haruto Nishida, Masanori Yasuda, Kaei Nasu","doi":"10.1007/s00795-022-00336-7","DOIUrl":"https://doi.org/10.1007/s00795-022-00336-7","url":null,"abstract":"Adenocarcinomas with clear cell morphology may be associated with elevated serum alpha-fetoprotein levels in various organs. We report the case of an alpha-fetoprotein-producing cervical adenocarcinoma with clear cell morphology and compare it immunohistochemically, molecularly, and virologically with cervical clear cell carcinoma, gastric-type mucinous carcinoma, and ovarian clear cell carcinoma. A 51-year-old Japanese woman was initially diagnosed with cervical clear cell carcinoma. The tumor was resistant to standard surgery, radiotherapy, and chemotherapy. Serum carcinoembryonic antigen and alpha-fetoprotein were elevated. The tumor was immunohistochemically positive for alpha-fetoprotein, human chorionic gonadotropin, cytokeratin 20, spalt-like transcription factor 4, glypican 3, MUC6, and HIK1083. Gene panel testing revealed CCNE1 amplification, CDKN2A loss, and TP53 R282W. We compared the present case with 120 ovarian clear cell carcinoma cases using a tissue microarray. Only one case (0.8%) showed very limited immunohistochemical positivity for alpha-fetoprotein. Of the 54 cases in which serum carcinoembryonic antigen was measured, only one (1.9%) was elevated (19.9 ng/mL). We diagnosed the case as alpha-fetoprotein-producing cervical gastric-type mucinous carcinoma with enteroblastic differentiation. In conclusion, alpha-fetoprotein-producing cervical adenocarcinoma is a rare but aggressive tumor. Clinicians and pathologists should be aware of this unfamiliar tumor, its diagnostic clues, prognostic markers, and treatment strategies.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9323172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical and functional characterisation of the SMAD4 germline variant c.1035C > A in a family with juvenile polyposis syndrome by whole-exome sequencing. 通过全外显子组测序分析少年息肉病综合征家族中SMAD4种系变异c.1035C > A的临床和功能特征

IF 1.8 4区医学

Medical Molecular Morphology Pub Date : 2023-03-01 DOI: 10.1007/s00795-022-00333-w

Yuan Dang, Qianhui Xu, Xiaofang Liu, Lie Wang, Chen Lin

{"title":"Clinical and functional characterisation of the SMAD4 germline variant c.1035C > A in a family with juvenile polyposis syndrome by whole-exome sequencing.","authors":"Yuan Dang, Qianhui Xu, Xiaofang Liu, Lie Wang, Chen Lin","doi":"10.1007/s00795-022-00333-w","DOIUrl":"https://doi.org/10.1007/s00795-022-00333-w","url":null,"abstract":"Juvenile polyposis syndrome (JPS) is a rare autosomal dominant inherited disease characterised by multiple juvenile polyps. Genes with JPS-associated mutations and their correlation with the phenotype are currently unknown. Gastrointestinal endoscopy results of a 31-year-old female patient showed multiple polyps in the digestive tract, and the presence of juvenile polyps was confirmed by pathological examination. During follow-up, the patient underwent total gastrectomy and polypectomy several times. Five members of this family were diagnosed with JPS, of which two died and three survived. Full exon gene sequencing of eight members of this family revealed a SMAD4 (NM-005359.3) c.1035C > A (p.Cys345*) mutation. This mutation leads to premature codon termination, causing protein truncation. SMAD4 is a pathogenic gene associated with JPS. This is the first report of an association between the c.1035C > A mutation and JPS pathogenesis. Detection of JPS-related mutations in family members with a genetic predisposition for JPS is very important for genetic counselling, surgical intervention, long-term monitoring and follow-up, and drug treatment.","PeriodicalId":18338,"journal":{"name":"Medical Molecular Morphology","volume":null,"pages":null},"PeriodicalIF":1.8,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10748907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1