Somatic deletion of the NF1 gene in a neurofibromatosis type 1-associated malignant melanoma demonstrated by digital PCR.

Abstract:

BACKGROUND:Neurofibromatosis type 1 (NF1) is the most common hereditary neurocutaneous disorder and it is associated with an elevated risk for malignant tumors of tissues derived from neural crest cells. The NF1 gene is considered a tumor suppressor gene and inactivation of both copies can be found in NF1-associated benign and malignant tumors. Melanocytes also derive from neural crest cells but melanoma incidence is not markedly elevated in NF1. In this study we could analyze a typical superficial spreading melanoma of a 15-year-old boy with NF1 for loss of heterozygosity (LOH) within the NF1 gene. Neurofibromatosis in this patient was transmitted by the boy's farther who carried the mutation NF1 c. 5546 G/A. RESULTS:Melanoma cells were isolated from formalin-fixed tissue by liquid coverslip laser microdissection. In order to obtain statistically significant LOH data, digital PCR was performed at the intragenic microsatellite IVS27AC28 with DNA of approx. 3500 melanoma cells. Digital PCR detected 23 paternal alleles and one maternal allele. Statistical analysis by SPRT confirmed significance of the maternal allele loss. CONCLUSION:To our knowledge, this is the first molecular evidence of inactivation of both copies of the NF1 gene in a typical superficial spreading melanoma of a patient with NF1. The classical double-hit inactivation of the NF1 gene suggests that the NF1 genetic background promoted melanoma genesis in this patient.

journal_name

Mol Cancer

journal_title

Molecular cancer

authors

Rübben A,Bausch B,Nikkels A

doi

10.1186/1476-4598-5-36

subject

Has Abstract

pub_date

2006-09-10 00:00:00

pages

36

issn

1476-4598

pii

1476-4598-5-36

journal_volume

5

pub_type

杂志文章
  • A novel autoantibody test for the detection of pre-neoplastic lung lesions.

    abstract:BACKGROUND:Atypical adenomatous hyperplasia (AAH) and squamous cell dysplasia (SCD) are associated with the development of malignant lesions in the lung. Accurate diagnosis of AAH and SCD could facilitate earlier clinical intervention and provide useful information for assessing lung cancer risk in human populations. D...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-13-78

    authors: Lowe FJ,Shen W,Zu J,Li J,Wang H,Zhang X,Zhong L

    更新日期:2014-04-05 00:00:00

  • Upregulation of FOXM1 induces genomic instability in human epidermal keratinocytes.

    abstract:BACKGROUND:The human cell cycle transcription factor FOXM1 is known to play a key role in regulating timely mitotic progression and accurate chromosomal segregation during cell division. Deregulation of FOXM1 has been linked to a majority of human cancers. We previously showed that FOXM1 was upregulated in basal cell c...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-9-45

    authors: Teh MT,Gemenetzidis E,Chaplin T,Young BD,Philpott MP

    更新日期:2010-02-26 00:00:00

  • Exosomes derived from gemcitabine-resistant cells transfer malignant phenotypic traits via delivery of miRNA-222-3p.

    abstract:BACKGROUND:Although gemcitabine-based chemotherapy has been established as a core multimodal therapy for non-small cell lung cancer (NSCLC) treatment, its clinical efficacy remains limited by the development of acquired resistance following tumor metastasis and relapse. In this study, we investigated how gemcitabine-re...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/s12943-017-0694-8

    authors: Wei F,Ma C,Zhou T,Dong X,Luo Q,Geng L,Ding L,Zhang Y,Zhang L,Li N,Li Y,Liu Y

    更新日期:2017-07-25 00:00:00

  • METTL3-mediated N6-methyladenosine modification is critical for epithelial-mesenchymal transition and metastasis of gastric cancer.

    abstract:BACKGROUND:As one of the most frequent chemical modifications in eukaryotic mRNAs, N6-methyladenosine (m6A) modification exerts important effects on mRNA stability, splicing, and translation. Recently, the regulatory role of m6A in tumorigenesis has been increasingly recognized. However, dysregulation of m6A and its fu...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/s12943-019-1065-4

    authors: Yue B,Song C,Yang L,Cui R,Cheng X,Zhang Z,Zhao G

    更新日期:2019-10-13 00:00:00

  • Suppression of growth, migration and invasion of highly-metastatic human breast cancer cells by berbamine and its molecular mechanisms of action.

    abstract:BACKGROUND:Breast cancer is the second leading cause of cancer related deaths among females worldwide. Berbamine (BER), a kind of bis-benzylisoquinoline alkaloid, has been used to treat clinical patients with inflammation and cancer for many years in China. The purpose of this study is to investigate the activity of BE...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-8-81

    authors: Wang S,Liu Q,Zhang Y,Liu K,Yu P,Liu K,Luan J,Duan H,Lu Z,Wang F,Wu E,Yagasaki K,Zhang G

    更新日期:2009-10-01 00:00:00

  • MiR-320a acts as a prognostic factor and Inhibits metastasis of salivary adenoid cystic carcinoma by targeting ITGB3.

    abstract:BACKGROUND:Salivary Adenoid cystic carcinoma (SACC) patients with local invasion and lung metastasis are often resistant to conventional therapy such as operation, chemotherapy and radiotherapy. To explore the underling mechanisms, we studied the roles of miRNA in regulating invasiveness of SACC cells. METHODS:MicroRN...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/s12943-015-0344-y

    authors: Sun L,Liu B,Lin Z,Yao Y,Chen Y,Li Y,Chen J,Yu D,Tang Z,Wang B,Zeng S,Fan S,Wang Y,Li Y,Song E,Li J

    更新日期:2015-04-29 00:00:00

  • Quantitative analysis of the effect of tubulin isotype expression on sensitivity of cancer cell lines to a set of novel colchicine derivatives.

    abstract:BACKGROUND:A maximum entropy approach is proposed to predict the cytotoxic effects of a panel of colchicine derivatives in several human cancer cell lines. Data was obtained from cytotoxicity assays performed with 21 drug molecules from the same family of colchicine compounds and correlate these results with independen...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-9-131

    authors: Tseng CY,Mane JY,Winter P,Johnson L,Huzil T,Izbicka E,Luduena RF,Tuszynski JA

    更新日期:2010-05-30 00:00:00

  • MicroRNA-148b is frequently down-regulated in gastric cancer and acts as a tumor suppressor by inhibiting cell proliferation.

    abstract:BACKGROUND:MicroRNAs (miRNAs) are involved in cancer development and progression, acting as tumor suppressors or oncogenes. Our previous studies have revealed that miR-148a and miR-152 are significantly down-regulated in gastrointestinal cancers. Interestingly, miR-148b has the same "seed sequences" as miR-148a and miR...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-10-1

    authors: Song YX,Yue ZY,Wang ZN,Xu YY,Luo Y,Xu HM,Zhang X,Jiang L,Xing CZ,Zhang Y

    更新日期:2011-01-04 00:00:00

  • The role of the PI3K/Akt/mTOR signalling pathway in human cancers induced by infection with human papillomaviruses.

    abstract::Infection with Human papillomaviruses (HPVs) leads to the development of a wide-range of cancers, accounting for 5% of all human cancers. A prominent example is cervical cancer, one of the leading causes of cancer death in women worldwide. It has been well established that tumor development and progression induced by ...

    journal_title:Molecular cancer

    pub_type: 杂志文章,评审

    doi:10.1186/s12943-015-0361-x

    authors: Zhang L,Wu J,Ling MT,Zhao L,Zhao KN

    更新日期:2015-04-17 00:00:00

  • Luciferase expression and bioluminescence does not affect tumor cell growth in vitro or in vivo.

    abstract::Live animal imaging is becoming an increasingly common technique for accurate and quantitative assessment of tumor burden over time. Bioluminescence imaging systems rely on a bioluminescent signal from tumor cells, typically generated from expression of the firefly luciferase gene. However, previous reports have sugge...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-9-299

    authors: Tiffen JC,Bailey CG,Ng C,Rasko JE,Holst J

    更新日期:2010-11-22 00:00:00

  • A mechanically-induced colon cancer cell population shows increased metastatic potential.

    abstract:BACKGROUND:Metastasis accounts for the majority of deaths from cancer. Although tumor microenvironment has been shown to have a significant impact on the initiation and/or promotion of metastasis, the mechanism remains elusive. We previously reported that HCT-8 colon cancer cells underwent a phenotypic transition from ...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-13-131

    authors: Tang X,Kuhlenschmidt TB,Li Q,Ali S,Lezmi S,Chen H,Pires-Alves M,Laegreid WW,Saif TA,Kuhlenschmidt MS

    更新日期:2014-05-29 00:00:00

  • Thyroid cancers of follicular origin in a genomic light: in-depth overview of common and unique molecular marker candidates.

    abstract::In recent years, thyroid malignances have become more prevalent, especially among women. The most common sporadic types of thyroid tumors of follicular origin include papillary, follicular and anaplastic thyroid carcinomas. Although modern diagnosis methods enable the identification of tumors of small diameter, tumor ...

    journal_title:Molecular cancer

    pub_type: 杂志文章,评审

    doi:10.1186/s12943-018-0866-1

    authors: Pstrąg N,Ziemnicka K,Bluyssen H,Wesoły J

    更新日期:2018-08-08 00:00:00

  • Circular RNA hsa_circ_0008305 (circPTK2) inhibits TGF-β-induced epithelial-mesenchymal transition and metastasis by controlling TIF1γ in non-small cell lung cancer.

    abstract:BACKGROUND:TGF-β promotes tumor invasion and metastasis through inducing epithelial-mesenchymal transition (EMT) in non-small cell lung cancer (NSCLC). Circular RNAs (circRNAs) are recognized as functional non-coding RNAs involved in human cancers. However, whether and how circRNAs contribute to TGF-β-induced EMT and m...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/s12943-018-0889-7

    authors: Wang L,Tong X,Zhou Z,Wang S,Lei Z,Zhang T,Liu Z,Zeng Y,Li C,Zhao J,Su Z,Zhang C,Liu X,Xu G,Zhang HT

    更新日期:2018-09-27 00:00:00

  • The lncRNA MACC1-AS1 promotes gastric cancer cell metabolic plasticity via AMPK/Lin28 mediated mRNA stability of MACC1.

    abstract:BACKGROUND:Metabolic plasticity has been increasingly thought to be a determinant of tumor growth and metastasis. MACC1, a transcriptional regulator of MET, was recognized as an oncogene in gastric cancer (GC); however, its transcriptional or post-translational regulation was not clear. We previously reported the metab...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/s12943-018-0820-2

    authors: Zhao Y,Liu Y,Lin L,Huang Q,He W,Zhang S,Dong S,Wen Z,Rao J,Liao W,Shi M

    更新日期:2018-03-06 00:00:00

  • Pancreas-specific activation of mTOR and loss of p53 induce tumors reminiscent of acinar cell carcinoma.

    abstract:BACKGROUND:Pancreatic acinar cell carcinoma (ACC) is a rare tumor entity with an unfavorable prognosis. Recent whole-exome sequencing identified p53 mutations in a subset of human ACC. Activation of the mammalian target of rapamycin (mTOR) pathway is associated with various pancreatic neoplasms. We thus aimed at analyz...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/s12943-015-0483-1

    authors: Kong B,Cheng T,Qian C,Wu W,Steiger K,Cao J,Schlitter AM,Regel I,Raulefs S,Friess H,Erkan M,Esposito I,Kleeff J,Michalski CW

    更新日期:2015-12-18 00:00:00

  • Genetic targeting of B-RafV600E affects survival and proliferation and identifies selective agents against BRAF-mutant colorectal cancer cells.

    abstract:BACKGROUND:Colorectal cancers carrying the B-Raf V600E-mutation are associated with a poor prognosis. The purpose of this study was to identify B-RafV600E-mediated traits of cancer cells in a genetic in vitro model and to assess the selective sensitization of B-RafV600E-mutant cancer cells towards therapeutic agents. ...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-13-122

    authors: Hirschi B,Gallmeier E,Ziesch A,Marschall M,Kolligs FT

    更新日期:2014-05-24 00:00:00

  • LMP1-augmented kappa intron enhancer activity contributes to upregulation expression of Ig kappa light chain via NF-kappaB and AP-1 pathways in nasopharyngeal carcinoma cells.

    abstract:BACKGROUND:Expression of kappa gene is under the control of distinct cis-regulatory elements, including the kappa intron enhancer (iE kappa) and the kappa 3' enhancer (3'E kappa). The active enhancers and expression of immunoglobulin is generally considered to be restricted to B lymphocytes. However, accumulating evide...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-8-92

    authors: Liu H,Zheng H,Duan Z,Hu D,Li M,Liu S,Li Z,Deng X,Wang Z,Tang M,Shi Y,Yi W,Cao Y

    更新日期:2009-10-27 00:00:00

  • Effects of nilotinib on regulatory T cells: the dose matters.

    abstract:BACKGROUND:Nilotinib is a tyrosine kinase inhibitor with high target specificity. Here, we characterized the effects of nilotinib for the first time on CD4+CD25+ regulatory T cells (Tregs) which regulate anti-tumor/leukemia immune responses. DESIGN AND METHODS:Carboxyfluorescein diacetate succinimidyl ester (CFSE) and...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-9-22

    authors: Fei F,Yu Y,Schmitt A,Rojewski MT,Chen B,Greiner J,Götz M,Bunjes D,Schmitt M

    更新日期:2010-01-29 00:00:00

  • Anaplastic oligodendrogliomas with 1p19q codeletion have a proneural gene expression profile.

    abstract:BACKGROUND:In high grade gliomas, 1p19q codeletion and EGFR amplification are mutually exclusive and predictive of dramatically different outcomes. We performed a microarray gene expression study of four high grade gliomas with 1p19q codeletion and nine with EGFR amplification, identified by CGH-array. RESULTS:The two...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-7-41

    authors: Ducray F,Idbaih A,de Reyniès A,Bièche I,Thillet J,Mokhtari K,Lair S,Marie Y,Paris S,Vidaud M,Hoang-Xuan K,Delattre O,Delattre JY,Sanson M

    更新日期:2008-05-20 00:00:00

  • MiR-25-3p promotes the proliferation of triple negative breast cancer by targeting BTG2.

    abstract:BACKGROUND:Triple-negative breast cancer (TNBC) is highly invasive and aggressive and lacks specific molecular targets to improve the prognosis. MiR-25-3p promotes proliferation of many tumors and its role and underlying mechanisms in TNBC remain to be well elucidated. METHODS:Differential expression of miR-25-3p in T...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/s12943-017-0754-0

    authors: Chen H,Pan H,Qian Y,Zhou W,Liu X

    更新日期:2018-01-08 00:00:00

  • Inhibition of STAT3 dimerization and acetylation by garcinol suppresses the growth of human hepatocellular carcinoma in vitro and in vivo.

    abstract:BACKGROUND:Constitutive activation of signal transducer and activator of transcription 3 (STAT3) has been linked with proliferation, survival, invasion and angiogenesis of a variety of human cancer cells, including hepatocellular carcinoma (HCC). Thus, novel agents that can suppress STAT3 activation have potential for ...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-13-66

    authors: Sethi G,Chatterjee S,Rajendran P,Li F,Shanmugam MK,Wong KF,Kumar AP,Senapati P,Behera AK,Hui KM,Basha J,Natesh N,Luk JM,Kundu TK

    更新日期:2014-03-21 00:00:00

  • Efficient TGF-β/SMAD signaling in human melanoma cells associated with high c-SKI/SnoN expression.

    abstract:BACKGROUND:SKI and SnoN proteins have been shown to inhibit TGF-β signaling, acting both as transcriptional co-repressors in the cell nucleus, and as sequestrators of SMAD proteins in the cytoplasm. TGF-β, on the other hand, induces rapid, proteasome-mediated, degradation of both proteins. How elevated SKI and SnoN pro...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-10-2

    authors: Javelaud D,van Kempen L,Alexaki VI,Le Scolan E,Luo K,Mauviel A

    更新日期:2011-01-06 00:00:00

  • Bevacizumab promotes venous thromboembolism through the induction of PAI-1 in a mouse xenograft model of human lung carcinoma.

    abstract:BACKGROUND:An increased incidence of venous thromboembolism (VTE) is associated with anti-vascular endothelial growth factor (VEGF) treatment in cancer. However, the mechanism underlying this effect remains elusive. In this study, we examined the effect of bevacizumab, a humanized monoclonal antibody against VEGF-A, on...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/s12943-015-0418-x

    authors: Chen N,Ren M,Li R,Deng X,Li Y,Yan K,Xiao L,Yang Y,Wang L,Luo M,Fay WP,Wu J

    更新日期:2015-07-29 00:00:00

  • Exosomal miR-21 regulates the TETs/PTENp1/PTEN pathway to promote hepatocellular carcinoma growth.

    abstract:BACKGROUND:As an important means of communication, exosomes play an important role in the development of hepatocellular carcinoma (HCC). METHODS:Bioinformatics analysis, dual-luciferase reporter assays, methylation-specific quantitative PCR, and ChIP-PCR analysis were used to gain insight into the underlying mechanism...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/s12943-019-1075-2

    authors: Cao LQ,Yang XW,Chen YB,Zhang DW,Jiang XF,Xue P

    更新日期:2019-10-27 00:00:00

  • Anti-tumor effects of fibroblast growth factor-binding protein (FGF-BP) knockdown in colon carcinoma.

    abstract:BACKGROUND:Fibroblast growth factors FGF-1 and FGF-2 are often upregulated in tumors, but tightly bound to heparan sulphate proteoglycans of the extracellular matrix (ECM). One mechanism of their bioactivation relies on the FGF-binding protein (FGF-BP) which, upon reversible binding to FGF-1 or -2, leads to their relea...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-10-144

    authors: Schulze D,Plohmann P,Höbel S,Aigner A

    更新日期:2011-11-23 00:00:00

  • Oncogenic KRAS promotes malignant brain tumors in zebrafish.

    abstract:BACKGROUND:Zebrafish have been used as a vertebrate model to study human cancers such as melanoma, rhabdomyosarcoma, liver cancer, and leukemia as well as for high-throughput screening of small molecules of therapeutic value. However, they are just emerging as a model for human brain tumors, which are among the most de...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/s12943-015-0288-2

    authors: Ju B,Chen W,Orr BA,Spitsbergen JM,Jia S,Eden CJ,Henson HE,Taylor MR

    更新日期:2015-02-03 00:00:00

  • Oncogenic seRNA functional activation: a novel mechanism of tumorigenesis.

    abstract::seRNA is a noncoding RNA (ncRNA) transcribed from active super-enhancer (SE), through which SE exerts biological functions and participates in various physiological and pathological processes. seRNA recruits cofactor, RNA polymerase II and mediator to constitute and stabilize chromatin loop SE and promoter region, whi...

    journal_title:Molecular cancer

    pub_type: 杂志文章,评审

    doi:10.1186/s12943-020-01195-5

    authors: Tan Y,Li Y,Tang F

    更新日期:2020-04-11 00:00:00

  • LncRNA TROJAN promotes proliferation and resistance to CDK4/6 inhibitor via CDK2 transcriptional activation in ER+ breast cancer.

    abstract:BACKGROUND:Estrogen receptor-positive (ER+) breast cancers represent approximately two-thirds of all breast cancers and have a sustained risk of late disease recurrence. Cyclin-dependent kinase 4 and 6 (CDK4/6) inhibitors have shown significant efficacy in ER+ breast cancer. However, their effects are still limited by ...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/s12943-020-01210-9

    authors: Jin X,Ge LP,Li DQ,Shao ZM,Di GH,Xu XE,Jiang YZ

    更新日期:2020-05-11 00:00:00

  • Homeobox gene Dlx-2 is implicated in metabolic stress-induced necrosis.

    abstract:BACKGROUND:In contrast to tumor-suppressive apoptosis and autophagic cell death, necrosis promotes tumor progression by releasing the pro-inflammatory and tumor-promoting cytokine high mobility group box 1 (HMGB1), and its presence in tumor patients is associated with poor prognosis. Thus, necrosis has important clinic...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-10-113

    authors: Lee SY,Jeon HM,Kim CH,Ju MK,Bae HS,Park HG,Lim SC,Han SI,Kang HS

    更新日期:2011-09-14 00:00:00

  • The RASSF gene family members RASSF5, RASSF6 and RASSF7 show frequent DNA methylation in neuroblastoma.

    abstract:BACKGROUND:Hypermethylation of promotor CpG islands is a common mechanism that inactivates tumor suppressor genes in cancer. Genes belonging to the RASSF gene family have frequently been reported as epigenetically silenced by promotor methylation in human cancers. Two members of this gene family, RASSF1A and RASSF5A ha...

    journal_title:Molecular cancer

    pub_type: 杂志文章

    doi:10.1186/1476-4598-11-40

    authors: Djos A,Martinsson T,Kogner P,Carén H

    更新日期:2012-06-13 00:00:00