2.Perivascular epithelioid cell tumor of the lung: a clinicopathological analysis of eight cases.
J LI ; R P HUANG ; P PANG ; X GUO ; Y H WANG ; L C GUO ; S HUANG
Chinese Journal of Pathology 2023;52(11):1126-1131
Objective: To investigate the clinicopathological features of perivascular epithelioid cell tumor (PEComa) of the lung. Methods: Eight PEComa cases of the lung diagnosed at the First Affiliated Hospital of Soochow University, Suzhou, China from July 2008 to December 2021 were collected and subject to immunohistochemical staining, fluorescence in situ hybridization and next generation sequencing. The relevant literature was reviewed and the clinicopathological features were analyzed. Results: There were 5 males and 3 females, aged from 18 to 70 years (mean 39 years). There were 3 cases of the right upper lung, 3 cases of the left lower lung, 1 case of the left upper lung and 1 case of the right middle lung. Seven cases were solitary and 1 case was multifocal (4 lesions). Seven cases were benign while one was malignant. The tumors were all located in the peripheral part of the lung, with a maximum diameter of 0.2-4.0 cm. Grossly, they were oval and well circumscribed. Microscopically, the tumor cells were oval, short spindle-shaped, arranged in solid nests, acinar or hemangiopericytoma-like patterns, with clear or eosinophilic cytoplasm. The stroma was rich in blood vessels with hyalinization. Coagulated necrosis and high-grade nuclei were seen in the malignant case, and calcification was seen in 2 cases. Immunohistochemically, the tumor cells were positive for Melan A (8/8), HMB45 (7/8), CD34 (6/8), TFE3 (4/7), and SMA (3/8). All cases were negative for CKpan and S-100. TFE3 (Xp11.2) gene fusion was examined using the TFE3 break-apart fluorescence in situ hybridization in 5 cases, in which only the malignant case was positive. The next generation sequencing revealed the SFPQ-TFE3 [t(X;1)(p11.2;p34)] fusion. Follow-up of the patients ranged from 12 to 173 months while one patient was lost to the follow-up. The malignant case had tumor metastasis to the brain 4 years after the operation and then received radiotherapy. Other 6 cases had no recurrence and metastasis, and all the 7 patients survived. Conclusions: Most of the PEComas of the lung are benign. When there are malignant morphological features such as necrosis, high-grade nuclei or SFPQ-TFE3 gene fusion, close follow-up seems necessary.
Male
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Female
;
Humans
;
In Situ Hybridization, Fluorescence
;
Perivascular Epithelioid Cell Neoplasms/pathology*
;
Lung/pathology*
;
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics*
;
Necrosis
;
Biomarkers, Tumor/analysis*
3.Expression and mutation of myc antagonist genes Mad1, Mxi1 and Rox in leukemia cells.
Xiao-Hui SUO ; Ling PAN ; Li YAO ; Xue-Jun ZHANG ; Zhi-Yun NIU ; Zuo-Ren DONG
Chinese Journal of Hematology 2007;28(11):745-749
OBJECTIVETo investigate the expression and mutation of Mad1, Mxi1 and Rox genes in leukemia cells.
METHODSExpression and mutation of Mad1, Mxi1 and Rox genes in bone marrow mononuclear cells (BMMNC) from 26 de novo acute leukemia (AL) patients, and in peripheral blood mononuclear cells (PBMNC) from 30 healthy volunteers, as well as in 7 human leukemic cell lines were analyzed by reverse transcription-polymerase chain reaction (RT-PCR), single strand conformational polymorphism (SSCP) and DNA sequencing.
RESULTSRT-PCR showed that all the above cells expressed Mad1, Mxi1 and Rox mRNA. SSCP revealed four polymorphisms: two in Mad1, one each in Mxi1 and Rox. DNA sequencing detected nine missense mutations: two in Mad1 in AL patients, four in Mxi1 (three in AL patients and one in KG-1 cell line), and three in Rox in AL patients. The mutations of Mad1, Mxi1 and Rox mRNA were detected in 2, 3 and 3 patients, respectively.
CONCLUSIONIt is for the first time to demonstrate the mutations of Mad1, Mxi1 and Rox genes in AL patients suggesting these mutated genes involve in the pathogenesis of leukemia.
Adolescent ; Adult ; Aged ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors ; genetics ; metabolism ; Basic Helix-Loop-Helix Transcription Factors ; genetics ; metabolism ; Cell Cycle Proteins ; genetics ; metabolism ; Female ; Humans ; Leukemia ; genetics ; metabolism ; Male ; Middle Aged ; Mutation ; Nuclear Proteins ; genetics ; metabolism ; Polymorphism, Single-Stranded Conformational ; Repressor Proteins ; genetics ; metabolism ; Tumor Suppressor Proteins ; genetics ; metabolism
4.Effect of over-expressed miR-155 on inhibiting C2C12 myogenic differentiation.
Yan XIONG ; Yu WANG ; Ning WEI ; Ruxiang XU ; Gongshe YANG ; Weijun PANG
Chinese Journal of Biotechnology 2014;30(2):182-193
To clarify the function and molecular mechanism of miR-155 in myogenic differentiation of C2C12, we constructed adenovirus over-expression vector of miR-155, then C2C12 cells were infected by adenovirus and induced myogenic differentiation. First, we observed the morphology of C2C12 after differentiation. Then the mRNA and protein expressions of myogenic markers (MyoD, MyoG and MyHC) were detected by qPCR and western blotting. Subsequently, the dual luciferase reporter gene assay was carried out to validate putative target gene (TCF4) of miR-155. Meanwhile, mRNA level of TCF4 was analyzed after over-expressing miR-155. The results show that over-expressed miR-155 reduced myotubes formation. Moreover, the mRNA and protein expression of MyoG and MyHC decreased significantly (P < 0.01). Further research demonstrated miR-155 bound the one (4532-4538) of three putative sites (1487-1493,1516-1522, 4532-4583) of TCF4 by luciferase reporter gene assay and the mRNA level of TCF4 decreased notably (P < 0.05). The data suggest that miR-155 inhibited myogenic differentiation of C2C12 through targeted TCF4.
Animals
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Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
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genetics
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Cell Differentiation
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Cell Line
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Genetic Vectors
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Mice
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MicroRNAs
;
genetics
;
Myoblasts
;
cytology
;
Myogenin
;
genetics
;
metabolism
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Myosin Heavy Chains
;
genetics
;
metabolism
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RNA, Messenger
;
genetics
;
Transcription Factor 4
5.Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.
Experimental & Molecular Medicine 2013;45(5):e21-
TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt-Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual disability. The TCF4 gene is also a risk factor with highly significant linkage to schizophrenia, presumably via overexpression of the TCF4 gene product in the central nervous system. This review will present an overview of the clinical manifestations of PTHS and relate those clinical attributes to the underlying molecular genetics of TCF4. In order to provide a molecular biological context for the loss of function of TCF4 in PTHS, the review will also present a brief overview of the basic biochemistry of TCF4-mediated regulation of cellular and neuronal gene expression. In the final section of this review, I will discuss and speculate upon possible roles for the TCF4 transcription factor in neuronal function and comment upon how understanding these roles may give new insights into the molecular neurobiology of human cognition.
Animals
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Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics/*metabolism
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Disease Models, Animal
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Facies
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Humans
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Hyperventilation/diagnosis/*genetics/pathology
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Intellectual Disability/diagnosis/*genetics/pathology
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Neurons/metabolism/pathology
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*Transcription, Genetic
6.Renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions with lymph node metastasis diagnosed after an injury accident: report of a case.
Yuanqin CHEN ; Sipeng KANG ; Jianlong QIU
Chinese Journal of Pathology 2014;43(2):123-124
Accidents
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Adolescent
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Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
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genetics
;
metabolism
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Carcinoma, Renal Cell
;
genetics
;
pathology
;
surgery
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Chromosomes, Human, X
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Diagnosis, Differential
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Gene Fusion
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Humans
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Kidney
;
injuries
;
Kidney Neoplasms
;
genetics
;
pathology
;
surgery
;
Lymphatic Metastasis
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Male
;
Translocation, Genetic
7.Alveolar soft part sarcoma: a clinicopathologic analysis of 48 cases.
Jing CHENG ; Pin TU ; Jianjun WANG ; Yan HE ; Bo YU ; Qiu RAO ; Xiaojun ZHOU ; Qunli SHI
Chinese Journal of Pathology 2016;45(1):16-20
OBJECTIVETo study the clinicopathologic features and differential diagnosis of alveolar soft part sarcoma (ASPS).
METHODSThe clinical data and pathologic features of 48 cases of ASPS were evaluated. Immunohistochemical study, PAS staining and fluorescence in-situ hybridization (FISH) were carried out in selected examples. Relevant literature was reviewed.
RESULTSAmongst the 48 cases studied, there were 17 males and 31 females, with male-to-female ratio of 1.0∶1.8. The age of patients ranged from 2 to 60 years (median=26 years). The tumor was most commonly located in deep soft tissue, especially that of lower extremities. Histologically, the tumor cells were arranged in alveolar or solid patterns and separated by sinusoidal vessels. They were large and contained abundant eosinophilic granules or crystals in cytoplasm. The nuclei were round to polygonal and vesicular, often with prominent nucleoli. Intravascular tumor extension was common. Some cases showed necrosis, hemorrhage and cystic changes. Immunohistochemical study showed that the tumor cells were positive for TFE3 (100%, 33/33). FISH assay was carried out in 4 cases and all of them had TFE3-ASPL gene fusion.
CONCLUSIONSASPS is a rare malignant neoplasm, often occurs in young patients. TFE3 is a useful immunohistochemical marker for diagnosis. The diagnosis is further confirmed by other markers.
Adolescent ; Adult ; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors ; genetics ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Gene Fusion ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Middle Aged ; Oncogene Proteins, Fusion ; genetics ; Sarcoma, Alveolar Soft Part ; diagnosis ; pathology ; Young Adult
8.High carbohydrate and high fat diet induces an increase in carbohydrate response element binding protein in liver of rats.
Jian-hong LIU ; Sen HUANG ; Wen-tao LING
Chinese Journal of Applied Physiology 2009;25(3):294-343
Animals
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Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
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genetics
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metabolism
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Diet, High-Fat
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Dietary Carbohydrates
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administration & dosage
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Dietary Fats
;
administration & dosage
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Lipoproteins, IDL
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blood
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Liver
;
metabolism
;
Male
;
RNA, Messenger
;
genetics
;
metabolism
;
Random Allocation
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Rats
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Rats, Sprague-Dawley
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Triglycerides
;
blood
9.Effects of NGX6 on the transcriptional activation of beta-catenin/TCF/LEF in Wnt/beta-catenin signal pathway.
Fen LIU ; Shou-rong SHEN ; Hong-tao LI ; Xiao-yan WANG ; Ya PENG ; Man-tian LIAO ; Qin GUO
Journal of Central South University(Medical Sciences) 2007;32(6):985-991
OBJECTIVE:
To explore the effects of NGX6 on the transcriptional activation of beta-catenin/TCF/LEF in Wnt/beta-catenin signal pathway, and to identify the role of NGX6 in Wnt signal pathway.
METHODS:
The eukaryotic expression vector pcDNA3.1(+)-beta-catenin (WT) was constructed. pcDNA3.1(+)-beta-catenin (WT) and pCMV-myc-NGX6 were cotransfected to COS-7 and the transcriptional activity of TCF/LEF was detected by TCF-4 luciferase report system. Without extro-genous beta-catenin, pCMV-myc-NGX6 was transfected alone to COS-7 and colon cancer cell line SW620, and the transcriptional activity of TCF/LEF was detected by TCF-4 luciferase report system, and then the expression of nucleus beta-catenin and TCF-4 was detected by Western blot.
RESULTS:
The eukaryotic expression vector pcDNA3.1(+)-beta-catenin (WT) was successfully constructed. The activation of TCF-4 luciferase report gene in the cotransfection group in COS-7 was less than that in NGX6 alone transfection group (P<0.05). The activation of TCF-4 luciferase report gene in NGX6 alone transfection group without extro-genous beta-catenin was less than that in pCMV-myc transfection group in COS-7 and SW620. The expression of beta-catenin and TCF-4 was decreased after the NGX6 transfection in COS-7 and SW620 cells.
CONCLUSION
NGX6 can inhibit the transcriptional activation of beta-catenin/TCF/LEF in Wnt signal pathway by its negative regulation in the nuclear translocation of beta-catenin.
Animals
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Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
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genetics
;
COS Cells
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Cell Line, Tumor
;
Chlorocebus aethiops
;
Genes, Reporter
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Humans
;
Membrane Proteins
;
genetics
;
Transcription Factor 4
;
Transcription Factors
;
genetics
;
Transcriptional Activation
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Transfection
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Tumor Suppressor Proteins
;
genetics
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Wnt Signaling Pathway
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beta Catenin
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genetics
;
metabolism
10.Research advance in tumors associated with microphthalmia-associated transcription factor gene family.
Chinese Journal of Pathology 2011;40(7):496-498
Basic Helix-Loop-Helix Leucine Zipper Transcription Factors
;
genetics
;
metabolism
;
Carcinoma, Renal Cell
;
genetics
;
metabolism
;
Cell Cycle Proteins
;
genetics
;
metabolism
;
Humans
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Melanoma
;
genetics
;
metabolism
;
Microphthalmia-Associated Transcription Factor
;
genetics
;
metabolism
;
Neoplasm Proteins
;
genetics
;
metabolism
;
Oncogene Proteins, Fusion
;
genetics
;
metabolism
;
Perivascular Epithelioid Cell Neoplasms
;
genetics
;
metabolism
;
Sarcoma, Clear Cell
;
genetics
;
metabolism
;
Translocation, Genetic