Somatic SF3B1 mutations in myelodysplastic syndrome with ring sideroblasts and chronic lymphocytic leukaemia.

Abstract:

:SF3B1 is the largest subunit of the Spliceosome Factor 3b (SF3B) complex and part of the U2 small nuclear ribosomal protein. It functions as an important part of spliceosomal assembly, converting precursor messenger RNA (mRNA) to mRNA ready for ribosomal translation. Mutations of SF3B1 are commonly seen in myelodysplastic syndromes with ring sideroblasts (MDS-RS)and MDS/myeloproliferative neoplasm (MPN-RS-T). These mutations are typically heterozygous missense substitutions, of which, 55% involve K700E. MDS-RS and MDS/MPN-RS-T usually carry a more favourable prognosis than other subtypes of MDS. SF3B1 itself does not influence survival in these conditions, but does correlate with increased thrombotic risk. Mutated SF3B1 is present in 9%-15% of chronic lymphocytic leukaemia cases and on its own correlates with improved responsiveness to ibrutinib, but is associated with additional adverse genetic abnormalities including TP53 and ATM mutations, which traditionally confer adverse outcomes.

journal_name

J Clin Pathol

authors

Foy A,McMullin MF

doi

10.1136/jclinpath-2019-205895

subject

Has Abstract

pub_date

2019-11-01 00:00:00

pages

778-782

issue

11

eissn

0021-9746

issn

1472-4146

pii

jclinpath-2019-205895

journal_volume

72

pub_type

杂志文章,评审
  • Squamous cell carcinoma arising in endometriosis of the ovary.

    abstract::Squamous cell carcinoma arising in ovarian endometriosis is extremely rare, but a case is reported in a 62 year old woman. If such an ovarian tumour is discovered evidence of teratoma, Brenner tumour, or endometriosis should be sought. Extensive sampling is mandatory as the developing tumour often overgrows the foci o...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.44.11.958

    authors: Naresh KN,Ahuja VK,Rao CR,Mukherjee G,Bhargava MK

    更新日期:1991-11-01 00:00:00

  • An evaluation of the British Pharmacopoeial assay of heparin: a comparison with other methods.

    abstract::The potencies of six commercially manufactured heparins have been measured by the British Pharmacopoeial (BP) assay and activated partial thromboplastin time (APTT), protamine sulphate, and anti-Xa assays. The APTT/BP potency ratios were found to vary with the preparation but this was not dependent on the tissue sourc...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.33.6.562

    authors: Shah GA,Dhall TZ,Ferguson I,Davis MR,Graham DT,Pomeroy AR,Dhall DP

    更新日期:1980-06-01 00:00:00

  • Histological changes in the oesophageal squamous mucosa: correlation with ambulatory 24 hour pH monitoring.

    abstract:AIMS:To determine the value of squamous mucosal histology in the assessment of patients with gastro-oesophageal reflux symptoms. METHODS:Sixty six patients with reflux symptoms underwent endoscopy with oesophageal biopsy, manometry, and 24 hour oesophageal pH testing. The following histological features were assessed ...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.56.3.205

    authors: Bowrey DJ,Williams GT,Clark GW

    更新日期:2003-03-01 00:00:00

  • Autoimmune markers are undetectable in end stage idiopathic dilated cardiomyopathy.

    abstract:BACKGROUND:Autoreactive humoral and cellular immune responses may be involved in the pathogenesis of idiopathic dilated cardiomyopathy (IDC). Certain human leucocyte antigens (HLA) could also be linked to the development of IDC. AIM:To determine whether various markers of autoimmunity are present in the final phase of...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.52.10.739

    authors: de Leeuw N,Melchers WJ,Ruiter DJ,Caforio AL,Balk AH,de Jonge N,Galama JM

    更新日期:1999-10-01 00:00:00

  • Folic acid clearances and basal serum folate levels in patients with thyroid disease.

    abstract::The plasma clearance of intravenously administered folic acid was abnormally rapid in all of five patients studied with untreated hyperthyroidism; in three, the basal serum L. casei folate level was subnormal. Four of these patients and another patient were studied at various intervals after partial or complete correc...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.17.6.666

    authors: Lindenbaum J,Klipstein FA

    更新日期:1964-11-01 00:00:00

  • Diagnostic utility of glypican-3 for hepatocellular carcinoma on liver needle biopsy.

    abstract:AIMS:Glypican 3 (GPC3) is a heparan sulphate proteoglycan that shows elevated levels in the serum of patients with hepatocellular carcinoma (HCC), but not in healthy blood donors or patients with benign liver disease. This study explores the value of GPC3 expression for diagnosis of HCC by immunohistochemistry in liver...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.2010.075374

    authors: Wang FH,Yip YC,Zhang M,Vong HT,Chan KI,Wai KC,Wen JM

    更新日期:2010-07-01 00:00:00

  • Evaluation of buffy-coat microscopy for the early diagnosis of bacteraemia.

    abstract::Three hundred and sixty samples of blood from 230 hospital patients were examined and compared with the results of simultaneous blood culture to determine the value of buffy-coat microscopy in detecting bacteraemia. One observer found 86 positive smears, 12 of which were from patients with positive blood cultures and ...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.34.12.1375

    authors: Coppen MJ,Noble CJ,Aubrey C

    更新日期:1981-12-01 00:00:00

  • Composite large cell neuroendocrine carcinoma and adenocarcinoma of the common bile duct.

    abstract::Large cell neuroendocrine carcinoma (LCNEC) is a high grade type of neuroendocrine tumour with an aggressive clinical course. This report describes the first case of LCNEC combined with an adenocarcinoma component in the common bile duct. A 68 year old man presented with jaundice. Severe stenosis of the bile duct was ...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.2005.028019

    authors: Sato K,Waseda R,Tatsuzawa Y,Fujinaga H,Wakabayashi T,Ueda Y,Katsuda S

    更新日期:2006-01-01 00:00:00

  • Implications on laboratory workload of breast cancer screening.

    abstract:AIMS:To determine whether the recommended methods for the handling of breast excision biopsy specimens from screening patients cause more laboratory work than those used for non-screening patients. METHODS:All breast excision biopsy specimens from 1990 were identified. Ninety one came from patients identified during t...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.45.6.521

    authors: Green B,McDicken IW,Turnbull LS

    更新日期:1992-06-01 00:00:00

  • Histological and molecular diversity and heterogeneity of precancerous lesions associated with inflammatory bowel diseases.

    abstract:AIMS:Inflammatory bowel disease (IBD)-associated precancerous lesions may be adenomatous or non-adenomatous with various histomorphologies. We aim to validate the newly proposed classification, to explore the neoplastic nature of the non-adenomatous lesions and to elucidate the molecular mechanisms underlying the diffe...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jclinpath-2019-206247

    authors: Gui X,Köbel M,Ferraz JG,Iacucci M,Ghosh S,Liu S,Ou Y,Perizzolo M,Winkfein RJ,Rambau P,Demetrick DJ

    更新日期:2020-07-01 00:00:00

  • Portal inflammation is associated with advanced histological changes in alcoholic and non-alcoholic fatty liver disease.

    abstract:BACKGROUND:Fatty liver disease (FLD), of either alcoholic (AFLD) or non-alcoholic (NAFLD) aetiologies, is characterised histologically by features that are lobulocentric that typically affect zone 3, in contrast with portal-based inflammation characteristics of other forms of chronic liver disease. AIM:The authors aim...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.2010.079145

    authors: Rakha EA,Adamson L,Bell E,Neal K,Ryder SD,Kaye PV,Aithal GP

    更新日期:2010-09-01 00:00:00

  • Quantitative assessment of histological changes in chronic gastritis after eradication of Helicobacter pylori.

    abstract:AIMS:To evaluate the effect of 10 day triple treatment on H pylori eradication and associated gastritis. METHODS:Fifty patients with H pylori positive non-ulcer dyspepsia were treated for 10 days with amoxicillin, tinidazole, and bismuth salts. Histological examination of the antral mucosa was performed before (T0), s...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.45.9.796

    authors: Di Napoli A,Petrino R,Boero M,Bellis D,Chiandussi L

    更新日期:1992-09-01 00:00:00

  • The predicting role of substance P in the neoplastic transformation of the hypoplastic bone marrow.

    abstract:AIMS:To estimate the expression of substance P in the haematopoietic cells of hypoplastic bone marrow and define its relationship with the course of bone marrow hypoplasia. METHODS:Bone marrow specimens were obtained from 42 children with bone marrow hypoplasia who were hospitalised in the Department of Pediatric Onco...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.2005.034629

    authors: Nowicki M,Ostalska-Nowicka D,Konwerska A,Miskowiak B

    更新日期:2006-09-01 00:00:00

  • Intestinal goblet cell autoantibody associated enteropathy.

    abstract::This report describes a case of refractory enteropathy with circulating intestinal goblet cell autoantibodies (IGA). A 19 year old man with hyperthyroidism had suffered from protracted diarrhoea for nearly 10 years. Histological examination showed evidence of collagenous enterocolitis. The diarrhoea did not improve de...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章,评审

    doi:10.1136/jcp.56.8.629

    authors: Hori K,Fukuda Y,Tomita T,Kosaka T,Tamura K,Nishigami T,Kubota A,Shimoyama T

    更新日期:2003-08-01 00:00:00

  • A new mdr-1 encoded P-170 specific monoclonal antibody: (6/1C) on paraffin wax embedded tissue without pretreatment of sections.

    abstract:AIMS:The generation and characterisation of a monoclonal antibody that specifically recognises the mdr-1 encoded protein, P-glycoprotein (P-170), on routinely processed formalin fixed, paraffin wax embedded tissue sections. METHODS:The monoclonal antibody, designated 6/1C, was produced following a combination of in vi...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.50.6.465

    authors: Moran E,Larkin A,Doherty G,Kelehan P,Kennedy S,Clynes M

    更新日期:1997-06-01 00:00:00

  • A necropsy and histomorphometric study of abnormalities in the course of the vertebral artery associated with ossified stylohyoid ligaments.

    abstract:AIMS:To establish whether abnormalities in the course of the vertebral artery occur and whether they are relevant to arterial injury associated with head and neck movements. METHODS:Twenty vertebral arteries were carefully dissected at necropsy and abnormalities in course were noted, along with any other bony or carti...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.48.7.637

    authors: Johnson CP,Scraggs M,How T,Burns J

    更新日期:1995-07-01 00:00:00

  • Erythrocyturia, smoking, and occupation.

    abstract::In a population of 432 apparently healthy men aged 50 years and over 19-2% had one or more erythrocytes per high-power field in the urine while 8-1% had more than 10. Erythrocyturia seemed to be strongly correlated with tobacco consumption. No significant association with occupation could be demonstrated but the data ...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.30.4.341

    authors: Freni SC,Dalderup LM,Oudegeest JJ,Wensveen N

    更新日期:1977-04-01 00:00:00

  • Assay of serum immunoreactive trypsin in dried blood spots and the early detection of cystic fibrosis.

    abstract::Immunoreactive trypsin (IRT) content in blood spots from 17 cystic fibrosis (CF) children born between 1975-80 were assayed with reagents from two commercial radioimmunoassay kits. The manufacturers' procedures were modified to allow assay of blood spot IRT. Half of the CF samples had a significantly raised IRT conten...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.34.8.906

    authors: Ryley HC,Robinson PG,Yamashiro Y,Bradley DM

    更新日期:1981-08-01 00:00:00

  • Thymidine phosphorylase expression and stromal vascularity in ductal carcinoma in situ of the breast.

    abstract:AIMS:Periductal angiogenesis in ductal carcinoma in situ is associated with an increased risk of subsequently developing a recurrence. This study aimed to (1) identify the relation between periductal and stromal vascularity and recurrence and (2) determine whether thymidine phosphorylase (TP) is associated with angioge...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.56.12.919

    authors: Teo NB,Shoker BS,Jarvis C,Sloane JP,Holcombe C

    更新日期:2003-12-01 00:00:00

  • Improved method for the estimation of plasma ammonia by ion exchange.

    abstract::Care in the preparation and preservation of reagents, together with certain modifications in apparatus and technique, have eliminated the difficulties from plasma ammonia analysis. Ammonia contamination from the laboratory atmosphere has not proved an especial hazard, and no major setback has been encountered in the a...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.21.1.14

    authors: Fenton JC,Williams AH

    更新日期:1968-01-01 00:00:00

  • Intradural bronchogenic cysts.

    abstract::The pathological findings of an intradural and extramedullary cyst in the mid cervical spinal canal are described in a 55 year old woman who presented with a short history of pain and paraesthesia of the right arm. Intradural well defined solitary cystic lesions in the spinal canal are uncommon, their pathogenesis is ...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.45.11.1032

    authors: Wilkinson N,Reid H,Hughes D

    更新日期:1992-11-01 00:00:00

  • A snake in the grass.

    abstract:CLINICAL QUESTION:A 77-year-old man presented with haematuria. Cystoscopy revealed a papillary tumour in the trigone region of the bladder. A TURBT was performed. Review the high-quality, interactive digital Aperio slide at http://virtualacp.com/JCPCases/jclinpath-2016-204015 and consider your diagnosis. WHAT IS YOUR D...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jclinpath-2016-204015

    authors: Trefor R,Varma M

    更新日期:2017-07-01 00:00:00

  • Morphological and functional disturbances of platelets induced by cryopreservation.

    abstract::In vitro morphological and functional studies were carried out on platelets which had been cryopreserved in the presence of 5% dimethyl sulphoxide (DMSO). Overall loss of platelets was around 50%. Those which survived freezing and reconstitution showed marked morphological deterioration, increase of procoagulant activ...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.35.8.870

    authors: Baythoon H,Tuddenham EG,Hutton RA

    更新日期:1982-08-01 00:00:00

  • Expression of the immunoproteasome subunit β5i in non-small cell lung carcinomas.

    abstract:AIM:The immunoproteasome is a specific proteasome isoform whose proteolytic activity enhances the generation of antigenic peptides to be presented by major histocompatibility complex class I molecules to CD8+ T cells. Physiologically, it is expressed abundantly in immune cells and is induced in somatic cells by cytokin...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jclinpath-2020-206618

    authors: Kiuchi T,Tomaru U,Ishizu A,Imagawa M,Iwasaki S,Suzuki A,Otsuka N,Ohhara Y,Kinoshita I,Matsuno Y,Dosaka-Akita H,Kasahara M

    更新日期:2020-09-17 00:00:00

  • Hepatitis B-DNA replication and histological patterns in liver biopsy specimens of chronic HBsAg positive patients with and without hepatitis delta virus superinfection.

    abstract::The role of active hepatitis B virus (HBV) infection in chronic HBsAg positive hepatitis with and without hepatitis delta virus (HDV) superinfection was analysed in percutaneous liver biopsy specimens from 50 patients. Each specimen was divided into two--one part for histological evaluation and for the detection of HB...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.42.7.689

    authors: Villari D,Raimondo G,Smedile V,Rodinó G,Brancatelli S,Longo G,Squadrito G,Batolo D

    更新日期:1989-07-01 00:00:00

  • PD-L1 expression on routine samples of non-small cell lung cancer: results and critical issues from a 1-year experience of a centralised laboratory.

    abstract:AIMS:Our laboratory is a centralised centre receiving routine non-small cell lung cancer (NSCLC) samples for programmed death ligand-1 (PD-L1) immunohistochemical (IHC) evaluation. Since literature data are not concordant here we review our clinical records to assess the rate of PD-L1 positive and negative NSCLC cases ...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jclinpath-2019-205732

    authors: Vigliar E,Malapelle U,Iaccarino A,Acanfora G,Pisapia P,Clery E,De Luca C,Bellevicine C,Troncone G

    更新日期:2019-06-01 00:00:00

  • Phaeochromocytoma: diagnostic challenges for biochemical screening and diagnosis.

    abstract::The aim of this article is to provide knowledge of the origin of catecholamines and metabolites so that there can be an informed approach to the methods for biochemical screening for a possible phaeochromocytoma; The article includes a review of catecholamine and metadrenaline metabolism, with methods used in biochemi...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章,评审

    doi:10.1136/jcp.2009.071647

    authors: Barron J

    更新日期:2010-08-01 00:00:00

  • Strong expression of the neuronal transcription factor FOXP2 is linked to an increased risk of early PSA recurrence in ERG fusion-negative cancers.

    abstract:BACKGROUND AND AIMS:Transcription factors of the forkhead box P (FOXP1-4) family have been implicated in various human cancer types before. The relevance and role of neuronal transcription factor FOXP2 in prostate cancer is unknown. METHODS:A tissue microarray containing samples from more than 11 000 prostate cancers ...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jclinpath-2012-201335

    authors: Stumm L,Burkhardt L,Steurer S,Simon R,Adam M,Becker A,Sauter G,Minner S,Schlomm T,Sirma H,Michl U

    更新日期:2013-07-01 00:00:00

  • Inflammatory cells contribute to the generation of an angiogenic phenotype in pancreatic ductal adenocarcinoma.

    abstract:BACKGROUND:Inflammatory cells contribute to the growth and spread of human malignancies by producing molecules that enhance tumour invasiveness. AIMS:To characterise the inflammatory infiltrate in pancreatic ductal adenocarcinoma and to analyse its contribution to angiogenesis and its prognostic relevance. METHODS:Im...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.2003.014498

    authors: Esposito I,Menicagli M,Funel N,Bergmann F,Boggi U,Mosca F,Bevilacqua G,Campani D

    更新日期:2004-06-01 00:00:00

  • Microbiological investigation of polyarthralgia.

    abstract::Results of serological investigations on patients with joint pain, arthralgia or polyarthritis were analysed and this information was used to develop a diagnostic algorithm to ensure optimal utilisation of laboratory resources. Accordingly, all cases are now examined for parvovirus IgM, mycoplasma IgM and streptococca...

    journal_title:Journal of clinical pathology

    pub_type: 杂志文章

    doi:10.1136/jcp.48.8.777

    authors: Jones JW,Pether JV,Frost RW

    更新日期:1995-08-01 00:00:00