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1.
Anticancer Res ; 41(9): 4609-4617, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34475089

RESUMO

BACKGROUND/AIM: This study aimed to assess the yield of an Oncomine comprehensive assay v3 (OCAv3)-based next-generation sequencing (NGS) analysis for detecting anaplastic lymphoma kinase (ALK) and c-ros oncogene 1 (ROS1) fusions in non-small cell lung cancer (NSCLC). PATIENTS AND METHODS: NGS data from 85 NSCLC cases were reviewed. ALK and ROS1 fusion status was compared to conventional tests. RESULTS: ALK or ROS1 fusion reads were detected in 17 NSCLC cases. Results in 10 NSCLC cases showed concordance with conventional tests, high-count fusion reads, a lack of mutually exclusive mutations of ALK or ROS1, and frequent signet-ring cell component. Seven NSCLC cases showing discordant results exhibited low to intermediate fusion read counts and mutations mutually exclusive from ALK or ROS1. CONCLUSION: Cases showing high-count fusion reads in OCAv3-based NGS have a strong possibility of carrying ALK or ROS1 fusion. Cases with low- to intermediate-count fusion reads should be interpreted with caution and may require additional confirmative tests.


Assuntos
Quinase do Linfoma Anaplásico/genética , Carcinoma Pulmonar de Células não Pequenas/genética , Neoplasias Pulmonares/genética , Proteínas de Fusão Oncogênica/genética , Proteínas Tirosina Quinases/genética , Proteínas Proto-Oncogênicas/genética , Análise de Sequência de RNA/métodos , Adulto , Idoso , Idoso de 80 Anos ou mais , Análise Citogenética , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Mutação , Reação em Cadeia da Polimerase Via Transcriptase Reversa
2.
Zhonghua Bing Li Xue Za Zhi ; 50(9): 1020-1023, 2021 Sep 08.
Artigo em Chinês | MEDLINE | ID: mdl-34496492

RESUMO

Objective: To evaluate the clinical and molecular pathologic features of uterine inflammatory myofibroblastic tumor (UIMT). Methods: Six UIMT cases collected at Department of Pathology, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University from 2019 to 2020. They were analyzed for their general characteristics and clinicopathologic features. ALK rearrangements were detected by fluorescence in situ hybridization. Results: The age of the six patients ranged from 14 to 65 years, the tumors ranged in size from 2.5 to 6.0 cm. The masses were intramural or submucosal in location. Most of them (4/6) were white with yellow foci, and two (2/6) were white with tan foci. Other features noted included a soft or firm appearance. The fasciitis-like pattern of UIMT had myxoid stroma around the spindle cells and inflammatory cells. The ganglion-like pattern showed either fascicular or storiform architecture with diffuse growth. Nuclear atypia was mild or moderate. Mitoses ranged from 2 to 4 per 10 high-power fields. Five tumors were ALK-positive with granular cytoplasmic staining by immunohistochemistry. ALK rearrangements were detected in five cases but was absent in one case. Conclusions: UIMT is an intermediate grade soft tissue tumor, a minority may present with extrauterine spread and/or recurrence. The tumors are composed of spindled cells. The main differentials include smooth muscle tumors and endometrial stromal tumors and their morphology may overlap with that of UIMT. Immunohistochemical positivity for ALK or FISH testing for ALK rearrangements can help in the diagnosis.


Assuntos
Biomarcadores Tumorais , Receptores Proteína Tirosina Quinases , Adolescente , Adulto , Idoso , Quinase do Linfoma Anaplásico/genética , China , Feminino , Humanos , Hibridização in Situ Fluorescente , Pessoa de Meia-Idade , Gravidez , Receptores Proteína Tirosina Quinases/genética , Adulto Jovem
3.
Zhonghua Bing Li Xue Za Zhi ; 50(9): 1024-1028, 2021 Sep 08.
Artigo em Chinês | MEDLINE | ID: mdl-34496493

RESUMO

0bjective To investigate the clinicopathological features,immunohistochemical phenotypes, molecular genetic alterations,diagnosis and differential diagnosis of inflammatory myofibroblastic tumor (IMT) of the urinary bladder. Methods: Ten cases of IMT of the urinary bladder (three cases at Ningbo Diagnostic Pathology Center from September 2011 to December 2020, five in-house diagnosed cases and two consultation cases at Shanghai Rui Jin Hospital from June 2011 to December 2020) were collected retrospectively. The clinicopathologic features and immunophenotypic profiles were studied by light microscopy and immunohistochemistry (EnVision method). The translocation of ALK gene was detected by fluorescence in situ hybridization (FISH). Results: Of the 10 patients, eight were male and two were female. The patients' age range was 16 to 62 years (median 36 years).The main clinical presentation was hematuria and urinary irritation. Three cases were located at the dome of the urinary bladder, four cases were in the left lateral wall and the remaining three cases were in the right lateral wall. The tumor size ranged from 1.5 cm to 8.5 cm. In eight cases, the tumors were mainly submucosal, and in some cases extending to the muscular layer of the urinary bladder. In two cases, the tumors were mainly located in the muscular layer and focally extended to the submucosa and adventitia. Histologically, four cases had the nodular fasciitis-like pattern, three cases had fibrohistiocytoma-like pattern, two cases had mixed histologic patterns and the remaining case showed leiomyosarcoma-like histologic features. Immunohistochemically, the tumor cells expressed SMA (10/10),calponin (9/10),desmin (6/10) and CKpan (9/10). Cytoplasmic staining for ALK1 and ALK (5A4) was detected in 7 of 10 cases and 8 of 10 cases, respectively. Nuclear and cytoplasmic staining for ALK (D5F3) was detected in 7 of 10 cases. Among eight cases with material available for FISH analysis, ALK rearrangement was present in five cases. Follow-up data were available in eight patients and none had local recurrence nor distant metastasis. Conclusion: IMT of the urinary bladder is an uncommon mesenchymal neoplasm with intermediate malignant potential.It has special clinicopathologic features, and a minority of cases have local tumor recurrence.


Assuntos
Neoplasias da Bexiga Urinária , Adolescente , Adulto , Quinase do Linfoma Anaplásico/genética , Biomarcadores Tumorais , China , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Receptores Proteína Tirosina Quinases/genética , Estudos Retrospectivos , Neoplasias da Bexiga Urinária/genética , Adulto Jovem
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(9): 869-872, 2021 Sep 10.
Artigo em Chinês | MEDLINE | ID: mdl-34487533

RESUMO

OBJECTIVE: To identify the etiology of a patient with severe symptoms of DMD and to trace its pathogenic gene, so as to provide a basis for genetic counseling and clinical intervention. METHODS: Multiple ligation-dependent probe amplification (MLPA) technique was used to analyze exon deletion/repetitive variant of DMD gene, and further analysis was performed by chromosome G-banding, fluorescence in situ hybridization (FISH) and SNP array analysis. RESULTS: The MLPA results of the proband showed that the exon 1-79 of DMD gene were deleted, the G-banding karyotype of blood sample was 46, XY, and the deletion of the short arm of X chromosome was found by FISH. SNP array results showed that 5.8Mb (29 628 158-35 434 714) deletion occurred in the Xp21.2p21.1 region of X chromosome, and the patient was diagnosed as the contiguous deletion syndrome involving the genes of IL1RAPL, MAGEB1-4, ROB, CXorf2, GM, AP3K7IP, FTHL1, DMD, FAM47A, TMEM47, and FAM47B. CONCLUSION: The exact pathogenic site of this family is the deletion of 5.8 Mb (29 628 158-35 434 714) in the Xp21.2p21.1 region of X chromosome, which can be used for prenatal diagnosis. High resolution SNP array technique plays an important role in detecting potential chromosome abnormalities in patients.


Assuntos
Distrofia Muscular de Duchenne , Distrofina/genética , Éxons , Feminino , Deleção de Genes , Humanos , Hibridização in Situ Fluorescente , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Gravidez , Diagnóstico Pré-Natal
5.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(8): 771-774, 2021 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-34365622

RESUMO

OBJECTIVE: To review the clinical data of a fetus with false positive result of non-invasive prenatal testing (NIPT) due to confined placental mosaicism (CPM). METHODS: Amniotic fluid sample was taken from a pregnant women with high risk for chromosome 16 aneuploidy for karyotyping analysis, single nucleotide polymorphism array (SNP array) and interphase fluorescence in situ hybridization (FISH). Genetic testing was also conducted on the fetal and maternal surface of the placenta, root of umbilical cord and fetal skin tissue after induced abortion. RESULTS: Cytogenetic analysis of the amniotic fluid sample yielded a normal karyotype. SNP array revealed mosaicism (20%) of trisomy 16 in the fetus. FISH confirmed the presence of mosaicism (25%) for trisomy 16. After induced labor, all sampled sites of placenta were confirmed to contain trisomy 16 by SNP array, while the analysis of fetal skin tissue yielded a negative result. CONCLUSION: CPM is an important factor for false positive NIPT result. Prenatal identification of CPM and strengthened pregnancy management are important to reduce adverse pregnancy outcomes.


Assuntos
Cromossomos Humanos Par 16 , Mosaicismo , Amniocentese , Cromossomos Humanos Par 16/genética , Análise Citogenética , Feminino , Feto , Humanos , Hibridização in Situ Fluorescente , Biologia Molecular , Placenta , Gravidez , Diagnóstico Pré-Natal , Trissomia/genética
6.
PLoS One ; 16(8): e0256378, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34403446

RESUMO

Saliva is a matrix which may act as a vector for pathogen transmission and may serve as a possible proxy for SARS-CoV-2 contagiousness. Therefore, the possibility of detection of intracellular SARS-CoV-2 in saliva by means of fluorescence in situ hybridization is tested, utilizing probes targeting the antisense or sense genomic RNA of SARS-CoV-2. This method was applied in a pilot study with saliva samples collected from healthy persons and those presenting with mild or moderate COVID-19 symptoms. In all participants, saliva appeared a suitable matrix for the detection of SARS-CoV-2. Among the healthy, mild COVID-19-symptomatic and moderate COVID-19-symptomatic persons, 0%, 90% and 100% tested positive for SARS-CoV-2, respectively. Moreover, the procedure allows for simultaneous measurement of viral load ('presence', sense genomic SARS-CoV-2 RNA) and viral replication ('activity', antisense genomic SARS-CoV-2 RNA) and may yield qualitative results. In addition, the visualization of DNA in the cells in saliva provides an additional cytological context to the validity and interpretability of the test results. The method described in this pilot study may be a valuable diagnostic tool for detection of SARS-CoV-2, distinguishing between 'presence' (viral load) and 'activity' (viral replication) of the virus. Moreover, the method potentially gives more information about possible contagiousness.


Assuntos
COVID-19/diagnóstico , Hibridização in Situ Fluorescente/métodos , RNA Viral/análise , SARS-CoV-2/genética , Saliva/virologia , COVID-19/patologia , COVID-19/virologia , Estudos de Casos e Controles , Genômica , Humanos , RNA Antissenso/genética , RNA Antissenso/metabolismo , RNA Viral/genética , RNA Viral/metabolismo , SARS-CoV-2/isolamento & purificação , SARS-CoV-2/fisiologia , Índice de Gravidade de Doença , Carga Viral , Replicação Viral
7.
Water Sci Technol ; 84(3): 683-696, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34388127

RESUMO

Quinones and humus are ubiquitous in the biosphere and play an important role in the anaerobic biodegradation and biotransformation of organic acids, poisonous compounds as well as inorganic compounds. The impact of humic model compound, anthraquinone-2, 6-disulfonate (AQDS) on anaerobic phenol and p-cresol degradation were studied. Four methanogenic AQDS-free phenol and p-cresol enrichments and two phenol-AQDS enrichments were obtained using two sludges with potential biodegradability of phenol and cresol isomers as inoculum. 16S rRNA gene-cloning analysis combined with fluorescence in situ hybridization revealed that syntrophic aromatic compound degrading bacterium Syntrophorhabdus aromaticivorans was dominant in four AQDS-free enrichments, whereas phenol degrading Cryptanaerobacter phenolicus was dominant in two phenol-AQDS enrichments. Neither co-culture of S. aromaticivorans with Methanospirillum hungatei nor two phenol-AQDS enrichments could metabolize phenol using AQDS as the terminal electron acceptor. Further degradation experiments suggested that C. phenolicus related microbes in two phenol-AQDS enrichments were responsible for the conversion of phenol to benzoate, and benzoate was further degraded by benzoate degraders of Syntrophus aciditrophicus or Sporotomaculum syntrophicum to acetate.


Assuntos
Cresóis , Fenol , Anaerobiose , Antraquinonas , Biodegradação Ambiental , Deltaproteobacteria , Hibridização in Situ Fluorescente , Peptococcaceae , RNA Ribossômico 16S/genética
8.
Science ; 373(6556)2021 08 13.
Artigo em Inglês | MEDLINE | ID: mdl-34385369

RESUMO

Capturing the heterogeneous phenotypes of microbial populations at relevant spatiotemporal scales is highly challenging. Here, we present par-seqFISH (parallel sequential fluorescence in situ hybridization), a transcriptome-imaging approach that records gene expression and spatial context within microscale assemblies at a single-cell and molecule resolution. We applied this approach to the opportunistic pathogen Pseudomonas aeruginosa, analyzing about 600,000 individuals across dozens of conditions in planktonic and biofilm cultures. We identified numerous metabolic- and virulence-related transcriptional states that emerged dynamically during planktonic growth, as well as highly spatially resolved metabolic heterogeneity in sessile populations. Our data reveal that distinct physiological states can coexist within the same biofilm just several micrometers away, underscoring the importance of the microenvironment. Our results illustrate the complex dynamics of microbial populations and present a new way of studying them at high resolution.


Assuntos
Pseudomonas aeruginosa/genética , Transcriptoma , Biofilmes/crescimento & desenvolvimento , Proteínas de Fímbrias/genética , Flagelina/genética , Perfilação da Expressão Gênica , Regulação Bacteriana da Expressão Gênica , Hibridização in Situ Fluorescente , Fenótipo , Plâncton/genética , Plâncton/crescimento & desenvolvimento , Plâncton/metabolismo , Pseudomonas aeruginosa/crescimento & desenvolvimento , Pseudomonas aeruginosa/metabolismo , Pseudomonas aeruginosa/patogenicidade , Piocinas/biossíntese , RNA Bacteriano/genética , RNA Bacteriano/metabolismo , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Análise de Célula Única , Análise Espaço-Temporal , Virulência/genética
9.
Zhonghua Zhong Liu Za Zhi ; 43(8): 833-837, 2021 Aug 23.
Artigo em Chinês | MEDLINE | ID: mdl-34407587

RESUMO

Objective: To investigate the impact and clinical significance of the revised 2019 Chinese HER-2 testing guidelines on the detecting result evaluation of invasive breast cancers with equivocal HER-2 immunostaining by using fluorescence in situ hybridization (FISH). Methods: A total of 569 cases of invasive breast cancers with HER-2 (+ + ) immunostaining evaluated according to the immunohistochemistry (IHC) guidelines of 2014 edition and 2019 edition from May to November 2019 were collected and further detected by FISH. The results of HER-2/CEPl7 double probe were respectively interpreted according to both the 2014 and 2019 Chinese HER-2 testing guidelines and the results were compared. Results: According to the 2014 guidelines, the number of HER-2 positive, equivocal and negative cases were 139 (24.43%), 67 (11.78%), and 363 (63.80%), respectively. Whereas according to the 2019 guidelines, 115 cases (20.21%) were the first group, 9 cases (1.58%) were the second group, 15 cases (2.64%) were the third group, 67 cases (11.78%) were the fourth group, and 363 cases were (63.80%) the fifth group, of which 130 cases (22.85%) were positive and 439 cases (77.15%) were negative by FISH detecting. Compared with the guideline of 2014 edition, the HER-2 positive rate of FISH detection reduced from 24.43% (139/569) to 22.85% (130/559) according to the application of the guideline of 2019 edition, but the difference was not statistically significant (P=0.567), while the negative rate increased from 63.80% (363/569) to 77.15% (439/569), with a statistically significant difference (P<0.05). Forty-three cases with incomplete weak to medium intensity of IHC membrane staining which were HER-2 (+ + ) according to 2014 guideline were changed to IHC (+ ) on the basis of the 2019 guideline. According to the FISH guideline of 2014 edition, 1 case (2.33%) was positive, 6 cases (13.95%) was equivocal and 36 cases (83.72%) was negative, while according to the 2019 FISH guideline, all of the 43 cases were negative. Conclusions: According to the guideline of 2019 edition, a proportion of cases changes from HER-2 (+ + ) to (+ ), and the HER-2 positive rate of FISH test decreases slightly, the negative rate increases, the equivocal result is eliminated, which provides a definite reference for screening patients who will be benefited from the targeted treatment of HER-2.


Assuntos
Neoplasias da Mama , Grupo com Ancestrais do Continente Asiático , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , China , Feminino , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente
10.
Nat Commun ; 12(1): 4802, 2021 08 10.
Artigo em Inglês | MEDLINE | ID: mdl-34376665

RESUMO

During meiosis, gene expression is silenced in aberrantly unsynapsed chromatin and in heterogametic sex chromosomes. Initiation of sex chromosome silencing is disrupted in meiocytes with sex chromosome-autosome translocations. To determine whether this is due to aberrant synapsis or loss of continuity of sex chromosomes, we engineered Caenorhabditis elegans nematodes with non-translocated, bisected X chromosomes. In early meiocytes of mutant males and hermaphrodites, X segments are enriched with euchromatin assembly markers and active RNA polymerase II staining, indicating active transcription. Analysis of RNA-seq data showed that genes from the X chromosome are upregulated in gonads of mutant worms. Contrary to previous models, which predicted that any unsynapsed chromatin is silenced during meiosis, our data indicate that unsynapsed X segments are transcribed. Therefore, our results suggest that sex chromosome chromatin has a unique character that facilitates its meiotic expression when its continuity is lost, regardless of whether or not it is synapsed.


Assuntos
Caenorhabditis elegans/genética , Inativação Gênica , Meiose/genética , Cromossomo X/genética , Animais , Proteínas de Caenorhabditis elegans/genética , Proteínas de Caenorhabditis elegans/metabolismo , Proteínas de Ciclo Celular/genética , Proteínas de Ciclo Celular/metabolismo , Cromatina/genética , Pareamento Cromossômico/genética , Feminino , Células Germinativas/citologia , Células Germinativas/metabolismo , Histonas/metabolismo , Hibridização in Situ Fluorescente , Masculino , Microscopia de Fluorescência , Transcrição Genética
11.
Indian J Med Res ; 153(4): 475-483, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-34380794

RESUMO

Background & objectives: B-cell chronic lymphocytic leukaemia (B-CLL) is one of the most common forms of adult leukaemia, with a highly variable clinical course. Specific chromosomal and genetic aberrations are used clinically to predict prognosis, independent from conventional clinical markers. Molecular cytogenetic methods such as fluorescence in situ hybridization (FISH) detect aberrations in up to 80 per cent B-CLL patients. This study was conducted to score the frequencies of recurrent aberrations, i.e., del(13q14), trisomy 12, del(11q22), del(17p13), del(6q21) and IgH (immunoglobulin heavy chain) translocations and to understand their role in prognostication and risk stratification. Methods: FISH studies were performed on bone marrow aspirate or peripheral blood of 280 patients using commercially available disease-specific probe set. The data were correlated with clinical and haematological parameters such as low haemoglobin, splenomegaly and lymphadenopathy. Results: Chromosomal aberrations were detected in 79 per cent of patients, with del(13q14) (57%) as the most common cytogenetic aberration, followed by trisomy 12 (27%), del(11q22) (22%), t(14q32) (19%), del(17p13) (18%) and del(6q21) (9%). Single or in coexistence with other aberration del(13q14) had a favourable outcome in comparison to del(11q22), t(14q32), del(17p13) and del(6q21) which were associated with advanced stages of the disease. Trisomy 12 had a variable clinical course. Interpretation & conclusions: FISH was found to be a sensitive and efficient technique in detecting the prevalence of recurrent cytogenetic abnormalities. Each of these aberrations is an important independent predictor of disease progression and survival which aids in designing risk-adapted treatment strategies for better disease management.


Assuntos
Leucemia Linfocítica Crônica de Células B , Aberrações Cromossômicas , Análise Citogenética , Humanos , Hibridização in Situ Fluorescente , Leucemia Linfocítica Crônica de Células B/diagnóstico , Leucemia Linfocítica Crônica de Células B/genética , Prognóstico
12.
Beijing Da Xue Xue Bao Yi Xue Ban ; 53(4): 640-646, 2021 Aug 18.
Artigo em Chinês | MEDLINE | ID: mdl-34393221

RESUMO

OBJECTIVE: To investigate the clinicopathological features and prognosis of fumarate hydratase deficient renal cell carcinoma (FH-RCC). METHODS: Immunohistochemical (IHC) staining was used to detect the expression of fumarate hydratase (FH) in tumor tissues of 109 different types of renal cell carcinoma (RCC) patients aged 60 years and younger from the Department of Urology of Peking University First Hospital from January 2013 to December 2019. The clinicopathological data and prognosis of FH-RCC were collected and analyzed. RESULTS: There were eleven patients with FH-negative expression. Seven were males and four females. The age of onset ranged 16-53 years (mean age: 36.7 years), and four female patients all had a history of uterine leiomyoma. Only one first-degree relative of one patient had renal cancer, and none of the patients had a history or family history of cutaneous leiomyomas. The diameter of the tumor was 2.1-12.0 cm (mean: 8.83 cm). Renal sinus or perirenal fat invasion was seen in nine cases, tumor thrombus in renal vein or inferior vena cava in six cases, lymph node metastasis in seven cases, adrenal gland invasion in four cases and splenic capsule invasion in one case. The cases were initially diagnosed as type Ⅱ papillary RCC (7/49, 14.3%), collecting duct carcinoma (2/9, 22.2%) and unclassified RCC (2/51, 3.9%). Tumor histopathology mostly showed a mixture of different structures, such as papillary, tubular cystic, solid, and so on. The most common histological structures were papillary (9/11, 81.8%) and tubular (8/11, 72.7%). Three cases had sarcomatoid areas. At least focal eosinophilic nucleolus (WHO/grades Ⅲ-Ⅳ) and perinuclear halo could be seen in all cases. Immunohistochemical (IHC) stains of most tumors were negative for CA9, CD10 and CK7. The results of fluorescence in situ hybridization (FISH) showed that there was no translocation or amplification of TFE3 gene in two cases with TFE3 IHC expression. All the patients were followed up for 11-82 months. Mean survival was 24 months. Five cases died of distant metastasis 9-31 months after operation (mean: 19 months), and five of the six patients alive had became metastatic. CONCLUSION: Morphologically, FH-RCC overlaps with many types cell RCC. A mixture of papillary and tubular cystic arrangement is the most common growth pattern of FH-RCC. At least focally large and obvious eosinophilic nucleoli are an important histological feature of this tumor. The negative expression of FH can help to confirm the diagnosis. Young female RCC patients with uterine leiomyomas should be suspected of FH-RCC. Some FH-RCC cases lack clinical evidence. The suspicion raised by pathologists based on histological characteristics is often the key step to further genetic testing and the final diagnosis of the tumor.


Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Adolescente , Adulto , Biomarcadores Tumorais , Carcinoma de Células Renais/genética , Feminino , Fumarato Hidratase/genética , Humanos , Hibridização in Situ Fluorescente , Neoplasias Renais/genética , Masculino , Pessoa de Meia-Idade , Prognóstico , Adulto Jovem
13.
Zhonghua Bing Li Xue Za Zhi ; 50(7): 728-733, 2021 Jul 08.
Artigo em Chinês | MEDLINE | ID: mdl-34405605

RESUMO

Objective: To investigate the clinicopathological features, immunophenotype, differential diagnosis, molecular genetic changes and prognosis of salivary gland-type clear cell carcinoma (CCC) of the lung. Methods: Eight cases of salivary gland-type CCC of the lung diagnosed at Fudan University Shanghai Cancer Center and Shanghai Pulmonary Hospital, China from March 2017 to December 2020 were retrieved and analyzed. The pathological sections of these cases were studied using immunohistochemical staining, fluorescence in situ hybridization (FISH), and RNA-seq fusion gene detection based on next generation sequencing technique. The patients were followed up and the relevant literature was reviewed. Results: The 8 patients included 3 males and 5 females, with age ranging from 43 to 64 years (average, 58 years). All patients underwent radical lobectomy and lymph node dissection, while only one had lymph node metastases. The eight patients were followed up for 6 to 45 months, and were all recurrence-free. Histopathologically, the tumor was mainly composed of eosinophilic and clear cells arranged in trabecular, ribbon and nest patterns. Hyalinization was often observed in the stroma around the nest. Immunohistochemical staining showed that 8/8 cases were positive for EMA and CK7; 5/8 cases were positive for p63 and p40; 4/8 cases were positive for SOX10; and the cases were all negative for S-100, SMA and calponin. EWSR1 gene fusion was detected in all cases by FISH. RNA-seq fusion gene was detected in 6 cases based on next generation sequencing. The EWSR1-ATF1 gene fusion was detected in 5 cases, among which one case also had the ATF1-SPTLC2 gene fusion. All 5 cases with EWSR1-ATF1 gene fusion showed that EWSR1 exon 12/13 fused with ATF1 exon 3. And EWSR1-CREM gene fusion was detected in one case. Conclusions: Salivary gland-type CCC of the lung is an extremely rare primary lung tumor arising from the bronchial mucosa. The diagnosis and differential diagnosis of this tumor depend on classic histomorphology, especially the auxiliary detection of EWSR1 fusion gene. The primary treatment choice of this tumor is complete surgical resection. Lymph node metastases may occur, but the overall prognosis is good.


Assuntos
Carcinoma , Adulto , Biomarcadores Tumorais , China , Feminino , Humanos , Hibridização in Situ Fluorescente , Pulmão , Masculino , Pessoa de Meia-Idade , Biologia Molecular , Proteína EWS de Ligação a RNA/genética , Glândulas Salivares
14.
Zhonghua Bing Li Xue Za Zhi ; 50(7): 745-750, 2021 Jul 08.
Artigo em Chinês | MEDLINE | ID: mdl-34405608

RESUMO

Objective: To unravel the CIC rearrangement sarcomas and BCOR-CCNB3 sarcomas from EWSR1 rearrangement-negative undifferentiated round cell sarcomas in the bone and soft tissues. Methods: Twenty-eight cases of EWSR1 rearrangement-negative undifferentiated round cell sarcomas of bone and soft tissues, tested for CIC rearrangement and BCOR rearrangement by fluorescence in situ hybridization and related immunostaining were analyzed, and some of the BCOR rearrangement cases were verified by reverse transcription-polymerase chain reaction. Results: Five of 28 (17.9%) tested cases were positive for CIC rearrangement and six (21.4%) for BCOR rearrangement. Histopathologically, CIC rearrangement sarcomas comprised nodular aggregates of round to polygonal cells, containing hyperchromatic nuclei, prominent nucleoli and moderate cytoplasm, with focal variable necrosis and myxoid stroma. BCOR-CCNB3 sarcomas mostly comprised diffusely arranged, round to oval to short spindly cells with angulated nuclei, vesicular chromatin, inconspicuous nucleoli and interspersed vessels. Immunohistochemically, five of six BCOR-CCNB3 sarcomas showed CCNB3 immunostaining, which could be helpful for diagnosis. Two patients with CIC rearrangement sarcoma died of the diseases in seven months and twenty-two months. One patient with BCOR-CCNB3 sarcoma died of the diseases in forty-six months. Conclusions: Overall, 39.3% of the EWSR1 rearrangement-negative undifferentiated round cell sarcomas are CIC rearrangement sarcomas and BCOR-CCNB3 sarcomas. Molecular testing is helpful for diagnosis.


Assuntos
Biomarcadores Tumorais , Sarcoma , Biomarcadores Tumorais/genética , Rearranjo Gênico , Humanos , Imuno-Histoquímica , Hibridização in Situ Fluorescente , Proteínas de Fusão Oncogênica/genética , Proteínas Proto-Oncogênicas/genética , Proteína EWS de Ligação a RNA/genética , Proteínas Repressoras/genética , Sarcoma/genética
15.
Zhonghua Bing Li Xue Za Zhi ; 50(8): 870-875, 2021 Aug 08.
Artigo em Chinês | MEDLINE | ID: mdl-34344069

RESUMO

Objective: To investigate the clinicopathological features of central nervous system (CNS) mesenchymal chondrosarcoma (MCS). Methods: Nine cases of CNS MCS were collected at the First Affiliated Hospital of Fujian Medical University from September 2010 to September 2020. The clinical,imaging,histopathological and immunohistochemical features were reviewed. NCOA2 gene rearrangement was evaluated by fluorescence in situ hybridization (FISH). Results: There were three male and six female patients, with age range of 1 to 59 years (median 31 years). Six cases were intracranial and three cases were intraspinal, and the tumors showed dural attachment. They were often diagnosed as meningioma basing on preoperative imaging. Microscopically, the tumors showed a characteristic biphasic histologic pattern composed of undifferentiated mesenchymal small cells and well-differentiated hyaline cartilage islands. The small cells area were positive for SOX9 (9/9), CD99 (8/9), and without BRG1 and INI1 deletion. The cartilaginous component expressed SOX9 (9/9) and S-100 protein (8/9). NCOA2 gene break apart signal was identified in five cases (5/5). Eight patients were followed up for 4-124 months. Three patients (3/8) had recurrences within one year and two patients died of the tumor. Conclusions: CNS MCS is an extremely rare malignant neoplasm with a propensity to dural involvement. Preoperative imaging has low diagnostic accuracy. CNS MCS should be differentiated from other CNS small round cell tumors and chondrosarcoma. FISH detection of NCOA2 gene rearrangement will assist the diagnosis of MCS.


Assuntos
Neoplasias Ósseas , Condrossarcoma Mesenquimal , Condrossarcoma , Adolescente , Adulto , Neoplasias Ósseas/diagnóstico por imagem , Neoplasias Ósseas/genética , Sistema Nervoso Central , Criança , Pré-Escolar , Condrossarcoma/diagnóstico por imagem , Condrossarcoma/genética , Condrossarcoma/cirurgia , Condrossarcoma Mesenquimal/diagnóstico por imagem , Condrossarcoma Mesenquimal/genética , Condrossarcoma Mesenquimal/cirurgia , Feminino , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino , Pessoa de Meia-Idade , Adulto Jovem
16.
Zhonghua Bing Li Xue Za Zhi ; 50(8): 891-898, 2021 Aug 08.
Artigo em Chinês | MEDLINE | ID: mdl-34344072

RESUMO

Objective: To investigate MAML2 gene rearrangement, gene fusion patterns, and the clinicopathological characteristics of primary pulmonary mucoepidermoid carcinoma (PMEC). Methods: Forty-six cases of primary PMEC from Fudan University Zhongshan Hospital and Fudan University Shanghai Cancer Center between 2017 and 2020 were collected. MAML2 gene rearrangement in all cases was detected by fluorescence in situ hybridization (FISH). In 20 cases, MAML2 fusion patterns were detected by targeted RNA sequencing (RNAseq). The relationship between MAML2 gene rearrangement, fusion patterns, clinicopathological characteristics, and prognosis was analyzed. Results: The average age of PMEC patients was 41 years (range 15-71 years); the ratio of male to female was about 1.1 ∶ 1.0. Most PMECs were low grade in histopathology with an early clinical stage (stageⅠ-Ⅱ).The overall positive rate of MAML2 gene rearrangement detected by FISH was about 80.4% (37/46), and the rate was higher in low-grade PMEC (91.7%, 33/36). Of the 20 cases detected by RNAseq, all the 19 FISH positive cases showed gene fusion, mainly CRTC1-MAML2 fusion (16/19), the other three cases showed CRTC3-MAML2 fusion (3/19), the break point of all the fusion patterns was CRTC1/3 (exon 1)-MAML2 (exon 2); No gene fusion was detected in the single FISH negative case; Compared with the MAML2 FISH negative patients, the PMECs carrying CRTC1-MAML2 fusion were more commonly found in patients age ≤ 40 years, maximum tumor diameter ≤ 2 cm, low histopathological grade and early clinical stage (all P<0.05); The three PMECs carrying CRTC3-MAML2 fusion gene were all female with early clinical stage; Univariate analysis showed that MAML2 gene rearrangement/fusion, onset age ≤ 40 years old, smaller tumor size, low histopathological grade, early clinical stage, no metastasis at diagnosis and surgical treatment were significantly correlated with overall survival (P<0.05), but Cox regression analysis suggested that none of the above indicators were the independent prognostic factors for the survival of PMEC. Conclusions: The high incidence of MAML2 gene rearrangement in PMEC suggests that it is an important molecular diagnostic marker of PMEC. RNAseq confirms that CRTC1/3-MAML2 is the main fusion pattern in PMEC, suggesting that MAML2 fusion transcription may be an important driving factor of PMEC. MAML2 rearrangement/fusion and related clinicopathological characteristics are associated with good prognosis.


Assuntos
Carcinoma Mucoepidermoide , Adolescente , Adulto , Idoso , Carcinoma Mucoepidermoide/genética , China , Proteínas de Ligação a DNA/genética , Feminino , Fusão Gênica , Rearranjo Gênico , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Proteínas Nucleares/genética , Proteínas de Fusão Oncogênica/genética , Transativadores , Fatores de Transcrição/genética , Adulto Jovem
17.
Zhonghua Bing Li Xue Za Zhi ; 50(8): 919-923, 2021 Aug 08.
Artigo em Chinês | MEDLINE | ID: mdl-34344077

RESUMO

Objective: To investigate the clinicopathological, immunohistochemical and molecular features of small round cell sarcoma (SRCS) of the bone and soft tissue, and to compare the diagnostic value of different techniques. Methods: Seventy-two cases of SRCS of the bone and soft tissue diagnosed at People's Hospital, Peking University from January 2016 to March 2020 were recruited and retrospectively analyzed for pathological morphology, immunophenotype and fluorescence in situ hybridization (FISH) data. Next generation sequencing (NGS) was performed on 13 difficult cases. Results: In the study cohort, the patients ranged in age from 4-55 years, with a male predominance. The most Ewing's sarcomas and osteosarcomas occurred in the bone, while CIC-rearranged sarcomas, BCOR-rearranged sarcoma, synovial sarcoma, extraskeletal myxoid chondrosarcoma and FUS-NFATc2 rearranged sarcoma occurred in soft tissue. Histologically, all cases were composed predominantly of small round cells. Most cases were positive for vimentin and CD99, and showed a variable reactivity for neurogenic markers. Muscle marker and epithelial marker were negative for most cases. Combined with clinical features, histopathologic findings, immunophenotype, FISH and NGS, we diagnosed 46 Ewing sarcomas, 14 osteosarcomas, 3 CIC-rearranged sarcomas, 1 BCOR-rearranged sarcoma, 1 synovial sarcoma, 1 clear cell soft tissue sarcoma, 1 extraskeletal myxoid chondrosarcoma, 1 FUS-NFATc2 rearranged sarcoma, and 4 undifferentiated small round cell sarcomas. Conclusions: SRCS of bone and soft tissue is a group of malignant mesenchymal tumors based on morphological features. Most cases can be diagnosed with a combination of clinical characteristics, morphological features and immunohistochemical phenotype, while some cases require such further tests as FISH and NGS technologies, and NGS can be useful in diagnosing and categorizing SRCS.


Assuntos
Sarcoma de Células Pequenas , Sarcoma , Adolescente , Adulto , Biomarcadores Tumorais/genética , Criança , Pré-Escolar , Feminino , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-Idade , Proteínas de Fusão Oncogênica/genética , Estudos Retrospectivos , Sarcoma de Células Pequenas/diagnóstico , Sarcoma de Células Pequenas/genética , Adulto Jovem
18.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(8): 783-786, 2021 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-34365625

RESUMO

OBJECTIVE: To carry out prenatal diagnosis for a fetus with absent nasal bone by using cytogenetic and molecular techniques. METHODS: Chromosomal karyotyping, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) assays were applied for the diagnoses. Peripheral blood samples were also taken from the parents for chromosomal karyotyping and FISH analysis. RESULTS: The fetus was found to have a 46,XX,add(21)(p11.2) karyotype, and SNP-array has revealed a 11.3 Mb duplication at 21q22.12q22.3 (hg19: 36 762 648-48 093 361), which was confirmed by FISH. Both parents were found to be normal by chromosomal karyotyping and FISH analysis. The fetus was ultimately found to have a karyotype of 46,XX,der(21)t(21;21)(p11.2;q22.1), resulting a de novo partial trisomy of 21q22.1. CONCLUSION: Combined use of various techniques has enabled accurate prenatal diagnosis and genetic counseling for the fetus.


Assuntos
Osso Nasal , Trissomia , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Gravidez , Diagnóstico Pré-Natal , Trissomia/genética
19.
Hematology ; 26(1): 510-517, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34314294

RESUMO

OBJECTIVES: Multiple myeloma (MM) involves a clinically and biologically heterogeneous malignancy of plasma cells. It is difficult to predict the prognosis of MM. The presence of circulating clonal plasma cells (CPC) has been associated with a worse prognosis in patients with MM. METHODS: This study retrospectively analysed CPC in 108 newly diagnosed MM patients by 8-colour flow cytometry to investigate their value for predicting the outcome and combined the level of CPC with the revised International Staging System (R-ISS) to stratify the MM patients according to risk. RESULTS: CPC were detected in 58/108 patients (53.7%). The optimum cut-off for the prediction of overall survival was determined to be 0.105%. Patients with higher R-ISS stages seemed to harbour more CPC. A level of CPC≥0.105% was an independent risk factor for adverse outcomes (P<0.001). The combination of the R-ISS staging system and level of CPC was used to stratify MM patients according to risk, and the combination of R-ISS stage III and a level of CPC≥0.105% defined the ultra-high-risk group. CONCLUSION: This study suggests that a high proportion of CPC is associated with aggressive disease and that the use of the current R-ISS system in conjunction with assessment of the level of CPC may facilitate the stratification of newly diagnosed MM patients into clinically relevant prognostic subgroups.


Assuntos
Evolução Clonal , Mieloma Múltiplo/diagnóstico , Mieloma Múltiplo/mortalidade , Células Neoplásicas Circulantes/patologia , Plasmócitos/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores Tumorais , Evolução Clonal/genética , Feminino , Citometria de Fluxo , Humanos , Imunofenotipagem , Hibridização in Situ Fluorescente , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Mieloma Múltiplo/etiologia , Estadiamento de Neoplasias , Neoplasia Residual/diagnóstico , Células Neoplásicas Circulantes/metabolismo , Plasmócitos/metabolismo , Prognóstico , Modelos de Riscos Proporcionais , Estudos Retrospectivos
20.
Water Res ; 202: 117437, 2021 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-34298275

RESUMO

Diverting food waste (FW) into the sulfate-laden sewer may pose a significant influence on the production of methane and sulfide in sewers. Identifying microbial electron utilization is essential to understanding the interaction of sulfidogenesis and methanogenesis in depth. Here, we reported sulfide and methane production from the sewer bioreactors receiving sulfate-laden wastewater (160 mg S/L), with and without FW addition. Long-term monitoring showed that the addition of FW (1 g/L) could boost both sulfide (by 39%) and methane (by 44%) production. As for the electrons used for sulfidogenesis and methanogenesis, about 98% flowed to sulfidogenesis. Cryosection-fluorescence in situ hybridization showed that high sulfate content suppressed the accumulation of methanogens in biofilm outer layer, whereas methanogens in the inner layer were enriched with FW addition. Moreover, the FW addition fostered the diversity of the fermentative bacteria and changed the type of methanogens in biofilms, and up-regulated the key enzymes expressions for sulfidogenesis and methanogenesis. A model-based investigation suggests that increased FW-to-sewage ratios would exert a significant impact on methane production than on sulfide production. The microbial electron flows were highly dependent on sulfate concentration and FW-to-sewage ratios. The findings of this study suggest that sulfate and substrate levels play a key role in microbial electron utilization for sulfide and methane production, and diverting FW into the sulfate-laden sewer may exert negative impacts on sewer management and the environment.


Assuntos
Alimentos , Eliminação de Resíduos , Reatores Biológicos , Elétrons , Hibridização in Situ Fluorescente , Metano , Esgotos , Sulfatos , Sulfetos
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