当前位置： SCI文献检索 > BMC Medical Genetics期刊下所有文献 > A novel mutation of the MEN1 gene in a patient with multiple endocrine neoplasia type 1 and recurrent fibromyxoid sarcoma - a case report.

A novel mutation of the MEN1 gene in a patient with multiple endocrine neoplasia type 1 and recurrent fibromyxoid sarcoma - a case report.

Abstract：

BACKGROUND:Multiple endocrine neoplasia type 1 (MEN1) syndrome is usually accompanied by endocrine tumors, but non-endocrine tumors can occur as well. However, the coexistence of MEN1 syndrome and malignant tumor such as low-grade fibromyxoid sarcoma has not been described in the literature. Moreover, the MEN1 gene mutations have not been identified in patients with fibromyxoid sarcoma, so far. CASE PRESENTATION:We present a patient with a long-year endocrine follow-up due to multiple endocrine tumors. During his lifespan, he has been surgically treated for pancreatic gastrinoma, parathyroid hyperplasia, atypical pulmonary carcinoid, various benign mesenchymal, and several skin tumors (basocellular tumor, lipomas, and fibromas) which raised a high clinical suspicion of MEN1 syndrome but the patient refused genetic testing. Recently, he developed a novel malignant tumor - recurrent low-grade fibromyxoid sarcoma of the trunk and extremities with multiple subsequent operations. The patient eventually accepted the genetic testing which proved him to be a carrier of a novel mutation in the MEN1 gene. CONCLUSIONS:Unlike some other syndromes where a genetic mutation can predict clinical course, there is no genotype-phenotype correlation in MEN1 syndrome. Therefore, these patients require lifelong and multidisciplinary surveillance, not only for typical endocrine and benign non-endocrine tumors but also for diverse and even more malignant forms. The atypical clinical presentation should pose suspicion about new gene mutation and serve as a warning in the further follow-up.

journal_name

BMC Med Genet

journal_title

BMC medical genetics

authors

Radman M,Milicevic T

doi

10.1186/s12881-020-01129-4

subject

Has Abstract

pub_date

2020-09-29 00:00:00

pages

190

issue

1

issn

1471-2350

pii

10.1186/s12881-020-01129-4

journal_volume

21

pub_type

杂志文章

相关文献

BMC Medical Genetics文献大全
  • MTNR1B rs10830963 is associated with fasting plasma glucose, HbA1C and impaired beta-cell function in Chinese Hans from Shanghai.

    abstract：BACKGROUND:Genome-wide association studies (GWAS) in White Europeans have shown that genetic variation rs10830963 in melatonin receptor 1B gene (MTNR1B) is associated with fasting glucose and type 2 diabetes, which has also been replicated in several Asian populations. As a variant in the gene involved in the regulatio...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-11-59

    authors： Liu C,Wu Y,Li H,Qi Q,Langenberg C,Loos RJ,Lin X

    更新日期：2010-04-14 00:00:00

  • Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

    abstract：BACKGROUND:Many myopathies share clinical features in common, and diagnosis often requires genetic testing. We ascertained a family in which five siblings presented with distal muscle weakness of unknown etiology. METHODS:We performed high-density genomewide linkage analysis and mutation screening of candidate genes t...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-12-87

    authors： Boyden SE,Duncan AR,Estrella EA,Lidov HG,Mahoney LJ,Katz JS,Kunkel LM,Kang PB

    更新日期：2011-06-28 00:00:00

  • Genetic polymorphisms located in genes related to immune and inflammatory processes are associated with end-stage renal disease: a preliminary study.

    abstract：BACKGROUND:Chronic kidney disease progression has been linked to pro-inflammatory cytokines and markers of inflammation. These markers are also elevated in end-stage renal disease (ESRD), which constitutes a serious public health problem. OBJECTIVE:To investigate whether single nucleotide polymorphisms (SNPs) located ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-13-58

    authors： Jimenez-Sousa MA,López E,Fernandez-Rodríguez A,Tamayo E,Fernández-Navarro P,Segura-Roda L,Heredia M,Gómez-Herreras JI,Bustamante J,García-Gómez JM,Bermejo-Martin JF,Resino S

    更新日期：2012-07-20 00:00:00

  • Influence of FTO variants on obesity, inflammation and cardiovascular disease risk biomarkers in Spanish children: a case-control multicentre study.

    abstract：BACKGROUND:Variants in the FTO gene have been associated with obesity in children, but this association has not been shown with other biomarkers. We assessed the association of 52 FTO polymorphisms, spanning the whole gene, with obesity and estimated the influence of these polymorphisms on anthropometric, clinical and ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章,多中心研究

    doi：10.1186/1471-2350-14-123

    authors： Olza J,Ruperez AI,Gil-Campos M,Leis R,Fernandez-Orth D,Tojo R,Cañete R,Gil A,Aguilera CM

    更新日期：2013-12-01 00:00:00

  • Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?

    abstract：BACKGROUND:KCNH1 encodes a voltage-gated potassium channel that is predominantly expressed in the central nervous system. Mutations in this gene were recently found to be responsible for Temple-Baraitser Syndrome (TMBTS) and Zimmermann-Laband syndrome (ZLS). METHODS:Here, we report a new case of TMBTS diagnosed in a L...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-016-0304-4

    authors： Mégarbané A,Al-Ali R,Choucair N,Lek M,Wang E,Ladjimi M,Rose CM,Hobeika R,Macary Y,Temanni R,Jithesh PV,Chouchane A,Sastry KS,Thomas R,Tomei S,Liu W,Marincola FM,MacArthur D,Chouchane L

    更新日期：2016-06-10 00:00:00

  • HNPCC: six new pathogenic mutations.

    abstract：BACKGROUND:Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant disease with a high risk for colorectal and endometrial cancer caused by germline mutations in DNA mismatch-repair genes (MMR). HNPCC accounts for approximately 2 to 5% of all colorectal cancers. Here we present 6 novel mutations in ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-5-16

    authors： Kunstmann E,Vieland J,Brasch FE,Hahn SA,Epplen JT,Schulmann K,Schmiegel W

    更新日期：2004-06-24 00:00:00

  • A mitotic recombination map proximal to the APC locus on chromosome 5q and assessment of influences on colorectal cancer risk.

    abstract：BACKGROUND:Mitotic recombination is important for inactivating tumour suppressor genes by copy-neutral loss of heterozygosity (LOH). Although meiotic recombination maps are plentiful, little is known about mitotic recombination. The APC gene (chr5q21) is mutated in most colorectal tumours and its usual mode of LOH is m...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-10-54

    authors： Howarth K,Ranta S,Winter E,Teixeira A,Schaschl H,Harvey JJ,Rowan A,Jones A,Spain S,Clark S,Guenther T,Stewart A,Silver A,Tomlinson I

    更新日期：2009-06-10 00:00:00

  • FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine.

    abstract：BACKGROUND:FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we ha...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-018-0524-x

    authors： Nguyen-Dumont T,Myszka A,Karpinski P,Sasiadek MM,Akopyan H,Hammet F,Tsimiklis H,Park DJ,Pope BJ,Slezak R,Kitsera N,Siekierzynska A,Southey MC

    更新日期：2018-01-19 00:00:00

  • A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity.

    abstract：BACKGROUND:A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affec...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-15-25

    authors： Mir H,Raza SI,Touseef M,Memon MM,Khan MN,Jaffar S,Ahmad W

    更新日期：2014-02-26 00:00:00

  • Thymic stromal lymphopoietin gene promoter polymorphisms and expression levels in Graves' disease and Graves' ophthalmopathy.

    abstract：BACKGROUND:Graves disease (GD) is an organ-specific autoimmune disease characterized by hyperthyroidism, diffuse goiter, autoantibodies against thyroid-specific antigens, and dermopathy. Studies of GD have demonstrated the importance of the Th2 and Th17 immune responses in mediating disease progression. In the present ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-13-116

    authors： Tsai KH,Tsai FJ,Lin HJ,Lin HJ,Liu YH,Liao WL,Wan L

    更新日期：2012-11-30 00:00:00

  • DNA methylation within the I.4 promoter region correlates with CYPl19A1 gene expression in human ex vivo mature omental and subcutaneous adipocytes.

    abstract：BACKGROUND:DNA methylation at specific CpG sites within gene promoter regions is known to regulate transcriptional activity in vitro. In human adipose tissue, basal transcription of the aromatase (CYP19A1) gene is driven primarily by the I.4 promoter however the role of DNA methylation in regulating expression in ex vi...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-14-87

    authors： Lewis JR,McNab TJ,Liew LJ,Tan J,Hudson P,Wang JZ,Prince RL

    更新日期：2013-08-30 00:00:00

  • The importance of distinguishing between the odds ratio and the incidence rate ratio in GWAS.

    abstract：BACKGROUND:In recent years, genome wide association studies have identified many genetic variants that are consistently associated with common complex diseases, but the amount of heritability explained by these risk alleles is still low. Part of the missing heritability may be due to genetic heterogeneity and small sam...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-015-0210-1

    authors： Waltoft BL,Pedersen CB,Nyegaard M,Hobolth A

    更新日期：2015-08-30 00:00:00

  • Circulating leukocyte telomere length is highly heritable among families of Arab descent.

    abstract：BACKGROUND:Telomere length, an indicator of ageing and longevity, has been correlated with several biomarkers of cardiometabolic disease in both Arab children and adults. It is not known, however, whether or not telomere length is a highly conserved inheritable trait in this homogeneous cohort, where age-related diseas...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-13-38

    authors： Al-Attas OS,Al-Daghri NM,Alokail MS,Alkharfy KM,Alfadda AA,McTernan P,Gibson GC,Sabico SB,Chrousos GP

    更新日期：2012-05-18 00:00:00

  • Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study.

    abstract：BACKGROUND:Human prion diseases are relentlessly progressive neurodegenerative disorders which include sporadic Creutzfeldt-Jakob disease (sCJD) and variant CJD (vCJD). Aside from variants of the prion protein gene (PRNP) replicated association at genome-wide levels of significance has proven elusive. A recent associat...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-016-0278-2

    authors： Balendra R,Uphill J,Collinson C,Druyeh R,Adamson G,Hummerich H,Zerr I,Gambetti P,Collinge J,Mead S

    更新日期：2016-04-07 00:00:00

  • Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

    abstract：BACKGROUND:Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50-60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 genes have been reported to cause non-syndromic hearing loss. It is possible and efficient to screen all...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01087-x

    authors： Zhou Y,Tariq M,He S,Abdullah U,Zhang J,Baig SM

    更新日期：2020-07-18 00:00:00

  • Health status in patients at risk of inherited arrhythmias and sudden unexpected death compared to the general population.

    abstract：BACKGROUND:The possibilities in the molecular genetics of long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) has made family screening, with diagnostic and predictive genetic testing part of the health care offer in genetic counselling of inherited arrhythmias, potentially affecting the subjective health amo...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-11-27

    authors： Hamang A,Eide GE,Nordin K,Rokne B,Bjorvatn C,Øyen N

    更新日期：2010-02-17 00:00:00

  • Involvement of polymorphisms of the nerve growth factor and its receptor encoding genes in the etiopathogenesis of ischemic stroke.

    abstract：BACKGROUND:Despite the important role of the nerve growth factor in the survival and maintenance of neurons in ischemic stroke, data regarding the relationships between variations in the encoding gene and stroke are lacking. In the present study, we evaluated the association of the functional polymorphisms in NGF (rs63...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-018-0551-7

    authors： Stepanyan A,Zakharyan R,Simonyan A,Tsakanova G,Arakelyan A

    更新日期：2018-03-02 00:00:00

  • HLA haplotypes associated with hemochromatosis mutations in the Spanish population.

    abstract：BACKGROUND:The present study is an analysis of the frequencies of HLA-A and -B antigens and HLA haplotypes in two groups of individuals homozygous for the two main HFE mutations (C282Y and H63D) and a group heterozygous for the S65C mutation. METHODS:The study population includes: 1123 healthy individuals, 100 homozyg...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-5-25

    authors： Pacho A,Mancebo E,del Rey MJ,Castro MJ,Oliver D,García-Berciano M,González L,Morales P

    更新日期：2004-10-21 00:00:00

  • Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.

    abstract：BACKGROUND:The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perraul...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01002-4

    authors： Kume K,Morino H,Miyamoto R,Matsuda Y,Ohsawa R,Kanaya Y,Tada Y,Kurashige T,Kawakami H

    更新日期：2020-03-31 00:00:00

  • A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis.

    abstract：BACKGROUND:Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypertension. Congenital PCH has been very rarely described and, so far, the only causative gene identifie...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-015-0241-7

    authors： Dello Russo P,Franzoni A,Baldan F,Puppin C,De Maglio G,Pittini C,Cattarossi L,Pizzolitto S,Damante G

    更新日期：2015-10-13 00:00:00

  • TNFSF15 promoter polymorphisms increase the susceptibility to small cell lung cancer: a case-control study.

    abstract：BACKGROUND:Tumor necrosis factor superfamily member 15 (TNFSF15) is closely related to tumorigenesis and development. This study aimed to investigate the correlations between TNFSF15 polymorphisms and genetic susceptibility to lung cancer. METHODS:This case-control study included 209 small cell lung cancer patients (S...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-019-0762-6

    authors： Gao H,Niu Z,Zhang Z,Wu H,Xie Y,Yang Z,Li A,Jia Z,Zhang X

    更新日期：2019-02-08 00:00:00

  • Genetic association analysis of miRNA SNPs implicates MIR145 in breast cancer susceptibility.

    abstract：BACKGROUND:MicroRNAs (miRNAs) are important small non-coding RNA molecules that regulate gene expression in cellular processes related to the pathogenesis of cancer. Genetic variation in miRNA genes could impact their synthesis and cellular effects and single nucleotide polymorphisms (SNPs) are one example of genetic v...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-015-0248-0

    authors： Chacon-Cortes D,Smith RA,Haupt LM,Lea RA,Youl PH,Griffiths LR

    更新日期：2015-11-17 00:00:00

  • The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.

    abstract：BACKGROUND:Mutations of EFNB1 cause the X-linked malformation syndrome craniofrontonasal syndrome (CFNS). CFNS is characterized by an unusual phenotypic pattern of inheritance, because it affects heterozygous females more severely than hemizygous males. This sex-dependent inheritance has been explained by random X-inac...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-11-98

    authors： Makarov R,Steiner B,Gucev Z,Tasic V,Wieacker P,Wieland I

    更新日期：2010-06-17 00:00:00

  • Factor VII deficiency and developmental abnormalities in a patient with partial monosomy of 13q and trisomy of 16p: case report and review of the literature.

    abstract：BACKGROUND:Unbalanced chromosomal translocations may present with a variety of clinical and laboratory findings and provide insight into the functions of genes on the involved chromosomal segments. CASE PRESENTATION:A 9 year-old boy presented to our clinic with Factor VII deficiency, microcephaly, a seizure disorder, ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章,评审

    doi：10.1186/1471-2350-7-2

    authors： Brooks BP,Meck JM,Haddad BR,Bendavid C,Blain D,Toretsky JA

    更新日期：2006-01-13 00:00:00

  • Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.

    abstract：BACKGROUND:Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus. CASE PRESENTATION:The case was a female born after an uncomplicated pregnancy and delivery in a non-consanguineous family (3.59 kg, 70th percentile). Severe cardiac malformations were d...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-01012-2

    authors： Sanchez-Lechuga B,Saqlain M,Ng N,Colclough K,Woods C,Byrne M

    更新日期：2020-04-03 00:00:00

  • The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease.

    abstract：BACKGROUND:Three genes have been confirmed as major joint susceptibility genes for endocrine autoimmune disease:human leukocyte antigen class II, cytotoxic T-lymphocyte antigen 4 and protein tyrosine phosphatase non-receptor type 22. Recent studies showed that a genetic variation within the interferon induced helicase ...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-10-126

    authors： Penna-Martinez M,Ramos-Lopez E,Robbers I,Kahles H,Hahner S,Willenberg H,Reisch N,Seidl C,Segni M,Badenhoop K

    更新日期：2009-12-04 00:00:00

  • Silencing of microRNA-210 inhibits the progression of liver cancer and hepatitis B virus-associated liver cancer via targeting EGR3.

    abstract：BACKGROUND:This study was aimed to investigate the regulatory role of microRNA-210 (miRNA-210) on the progression of liver cancer and Hepatitis B virus (HBV)-associated liver cancer. METHODS:The expression of miRNA-210 was detected in liver tissues of HBV-associated cirrhosis and liver cancer, and in HepG2 and HepG2.2...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-020-0974-9

    authors： Li X,Yuan M,Song L,Wang Y

    更新日期：2020-03-06 00:00:00

  • Glucocorticoid receptor gene polymorphisms do not affect growth in fetal and early postnatal life. The Generation R Study.

    abstract：BACKGROUND:Glucocorticoids have an important role in early growth and development. Glucocorticoid receptor gene polymorphisms have been identified that contribute to the variability in glucocorticoid sensitivity. We examined whether these glucocorticoid receptor gene polymorphisms are associated with growth in fetal an...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/1471-2350-11-39

    authors： Geelhoed MJ,Steegers EA,Koper JW,van Rossum EF,Moll HA,Raat H,Tiemeier H,Hofman A,Jaddoe VW

    更新日期：2010-03-03 00:00:00

  • Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.

    abstract：BACKGROUND:The development of next-generation sequencing (NGS) technologies has a great impact in the human variation detection given their high-throughput. These techniques are particularly helpful for the evaluation of the genetic background in disorders of complex genetic etiology such as Hirschsprung disease (HSCR)...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-015-0235-5

    authors： Luzón-Toro B,Espino-Paisán L,Fernández RM,Martín-Sánchez M,Antiñolo G,Borrego S

    更新日期：2015-10-05 00:00:00

  • Association of novel polymorphisms in TMEM39A gene with systemic lupus erythematosus in a Chinese Han population.

    abstract：BACKGROUND:This study aimed to assess the association between 14 single nucleotide polymorphisms (SNPs) in six genes (IRF8, TMEM39A, IKZF3, ORMDL3, GSDMB, and ZPBP2) and systemic lupus erythematosus (SLE) in a Chinese Han population sample. METHODS:We carried out a case-control study of 415 patients with SLE and 470 h...

    journal_title：BMC medical genetics

    pub_type： 杂志文章

    doi：10.1186/s12881-017-0405-8

    authors： Cai X,Huang W,Liu X,Wang L,Jiang Y

    更新日期：2017-04-20 00:00:00