Loading…

Mutational analysis of the tumour suppressor gene MMAC1/PTEN in malignant myeloid disorders

: The candidate tumour suppressor gene MMAC1/PTEN located at chromosome 10q23.3 has been reported to be frequently mutated in a number of solid tumours. Less is known about its status in leukaemia. In the present study we first analysed 13 leukaemia cell lines for mutations and homozygous deletions...

Full description

Saved in:

Bibliographic Details
Published in:	European journal of haematology 2000-08, Vol.65 (2), p.109-113
Main Authors:	Aggerholm, Anni, Grønbæk, Kirsten, Guldberg, Per, Hokland, Peter
Format:	Article
Language:	English
Subjects:	Acute Disease acute myeloid leukemia Base Sequence Biological and medical sciences chronic myeloid leukemia DNA Mutational Analysis DNA, Neoplasm - genetics Electrophoresis, Agar Gel Exons - genetics Gene Deletion Genes, Tumor Suppressor - genetics Hematologic and hematopoietic diseases HL-60 Cells Humans Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics Leukemia, Myeloid - genetics Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis Medical sciences MMAC1 Mutation myelodysplastic syndromes Myelodysplastic Syndromes - genetics Phosphoric Monoester Hydrolases - genetics Polymerase Chain Reaction PTEN PTEN Phosphohydrolase Tumor Cells, Cultured Tumor Suppressor Proteins U937 Cells
Citations:	Items that cite this one
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

cited_by	cdi_FETCH-LOGICAL-c4621-b1810c5cb346371380c51ce8273db89e4b79279435af41d1ebf2695d8c5c133e3
cites
container_end_page	113
container_issue	2
container_start_page	109
container_title	European journal of haematology
container_volume	65
creator	Aggerholm, Anni Grønbæk, Kirsten Guldberg, Per Hokland, Peter
description	: The candidate tumour suppressor gene MMAC1/PTEN located at chromosome 10q23.3 has been reported to be frequently mutated in a number of solid tumours. Less is known about its status in leukaemia. In the present study we first analysed 13 leukaemia cell lines for mutations and homozygous deletions in MMAC1/PTEN using PCR and denaturing gradient gel electrophoresis (DGGE). We identified an intragenic deletion including MMAC1/PTEN exons 2–5 in an acute myelocytic leukaemia cell line, HL‐60 blast, and an insertion of four nucleotides in exon 5 in an acute monocytic leukaemia cell line, U937. Analysis of 59 patients with acute myeloid leukaemia (AML), 26 patients with myelodysplastic syndromes (MDS) and 10 patients with chronic myeloid leukaemia (CML) only revealed a polymorphic base substitution in codon 44 in one AML patient, suggesting that mutations in the MMAC1/PTEN gene are infrequent genetic aberrations in myeloid leukaemia.
doi_str_mv	10.1034/j.1600-0609.2000.90181.x
format	article
fullrecord	<record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_72218535</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>72218535</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4621-b1810c5cb346371380c51ce8273db89e4b79279435af41d1ebf2695d8c5c133e3</originalsourceid><addsrcrecordid>eNqNkF1v0zAUhi3ExMrgLyBfIO6S-diOHd8gTVW7ja0DpqFJcGE5iTNc8lHsRGv_Pe5SDS658Yf8vO-xHoQwkBQI46frFAQhCRFEpZQQkioCOaTbF2j2_PASzYgiNOGcwzF6HcI6glSBfIWOgSghQJIZ-rEaBzO4vjMNNnHZBRdwX-Php8XD2Pajx2HcbLwNoff4wXYWr1Znczj9cre4wa7DrWncQ2e6Abc72_SuwpWLaGV9eIOOatME-_awn6Bvy8Xd_CK5_nx-OT-7TkouKCRF_Dops7JgXDAJLI8XKG1OJauKXFleSEWl4iwzNYcKbFFTobIqjxlgzLIT9GHq3fj-92jDoFsXSts0prP9GLSkFPKMZRHMJ7D0fQje1nrjXWv8TgPRe7F6rff-9N6f3ovVT2L1NkbfHWaMRWurf4KTyQi8PwAmlKapvelKF_5yPGNUqYh9nLBH19jdf8_Xi08XT8dYkEwFLgx2-1xg_C8tJJOZvr851_dXt9-Xy1uhv7I_b0SiOg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>72218535</pqid></control><display><type>article</type><title>Mutational analysis of the tumour suppressor gene MMAC1/PTEN in malignant myeloid disorders</title><source>Wiley-Blackwell Read & Publish Collection</source><creator>Aggerholm, Anni ; Grønbæk, Kirsten ; Guldberg, Per ; Hokland, Peter</creator><creatorcontrib>Aggerholm, Anni ; Grønbæk, Kirsten ; Guldberg, Per ; Hokland, Peter</creatorcontrib><description>: The candidate tumour suppressor gene MMAC1/PTEN located at chromosome 10q23.3 has been reported to be frequently mutated in a number of solid tumours. Less is known about its status in leukaemia. In the present study we first analysed 13 leukaemia cell lines for mutations and homozygous deletions in MMAC1/PTEN using PCR and denaturing gradient gel electrophoresis (DGGE). We identified an intragenic deletion including MMAC1/PTEN exons 2–5 in an acute myelocytic leukaemia cell line, HL‐60 blast, and an insertion of four nucleotides in exon 5 in an acute monocytic leukaemia cell line, U937. Analysis of 59 patients with acute myeloid leukaemia (AML), 26 patients with myelodysplastic syndromes (MDS) and 10 patients with chronic myeloid leukaemia (CML) only revealed a polymorphic base substitution in codon 44 in one AML patient, suggesting that mutations in the MMAC1/PTEN gene are infrequent genetic aberrations in myeloid leukaemia.</description><identifier>ISSN: 0902-4441</identifier><identifier>EISSN: 1600-0609</identifier><identifier>DOI: 10.1034/j.1600-0609.2000.90181.x</identifier><identifier>PMID: 10966170</identifier><identifier>CODEN: EJHAEC</identifier><language>eng</language><publisher>Copenhagen: Munksgaard International Publishers</publisher><subject>Acute Disease ; acute myeloid leukemia ; Base Sequence ; Biological and medical sciences ; chronic myeloid leukemia ; DNA Mutational Analysis ; DNA, Neoplasm - genetics ; Electrophoresis, Agar Gel ; Exons - genetics ; Gene Deletion ; Genes, Tumor Suppressor - genetics ; Hematologic and hematopoietic diseases ; HL-60 Cells ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics ; Leukemia, Myeloid - genetics ; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis ; Medical sciences ; MMAC1 ; Mutation ; myelodysplastic syndromes ; Myelodysplastic Syndromes - genetics ; Phosphoric Monoester Hydrolases - genetics ; Polymerase Chain Reaction ; PTEN ; PTEN Phosphohydrolase ; Tumor Cells, Cultured ; Tumor Suppressor Proteins ; U937 Cells</subject><ispartof>European journal of haematology, 2000-08, Vol.65 (2), p.109-113</ispartof><rights>2000 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4621-b1810c5cb346371380c51ce8273db89e4b79279435af41d1ebf2695d8c5c133e3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1453299$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/10966170$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Aggerholm, Anni</creatorcontrib><creatorcontrib>Grønbæk, Kirsten</creatorcontrib><creatorcontrib>Guldberg, Per</creatorcontrib><creatorcontrib>Hokland, Peter</creatorcontrib><title>Mutational analysis of the tumour suppressor gene MMAC1/PTEN in malignant myeloid disorders</title><title>European journal of haematology</title><addtitle>Eur J Haematol</addtitle><description>: The candidate tumour suppressor gene MMAC1/PTEN located at chromosome 10q23.3 has been reported to be frequently mutated in a number of solid tumours. Less is known about its status in leukaemia. In the present study we first analysed 13 leukaemia cell lines for mutations and homozygous deletions in MMAC1/PTEN using PCR and denaturing gradient gel electrophoresis (DGGE). We identified an intragenic deletion including MMAC1/PTEN exons 2–5 in an acute myelocytic leukaemia cell line, HL‐60 blast, and an insertion of four nucleotides in exon 5 in an acute monocytic leukaemia cell line, U937. Analysis of 59 patients with acute myeloid leukaemia (AML), 26 patients with myelodysplastic syndromes (MDS) and 10 patients with chronic myeloid leukaemia (CML) only revealed a polymorphic base substitution in codon 44 in one AML patient, suggesting that mutations in the MMAC1/PTEN gene are infrequent genetic aberrations in myeloid leukaemia.</description><subject>Acute Disease</subject><subject>acute myeloid leukemia</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>chronic myeloid leukemia</subject><subject>DNA Mutational Analysis</subject><subject>DNA, Neoplasm - genetics</subject><subject>Electrophoresis, Agar Gel</subject><subject>Exons - genetics</subject><subject>Gene Deletion</subject><subject>Genes, Tumor Suppressor - genetics</subject><subject>Hematologic and hematopoietic diseases</subject><subject>HL-60 Cells</subject><subject>Humans</subject><subject>Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics</subject><subject>Leukemia, Myeloid - genetics</subject><subject>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</subject><subject>Medical sciences</subject><subject>MMAC1</subject><subject>Mutation</subject><subject>myelodysplastic syndromes</subject><subject>Myelodysplastic Syndromes - genetics</subject><subject>Phosphoric Monoester Hydrolases - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>PTEN</subject><subject>PTEN Phosphohydrolase</subject><subject>Tumor Cells, Cultured</subject><subject>Tumor Suppressor Proteins</subject><subject>U937 Cells</subject><issn>0902-4441</issn><issn>1600-0609</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><recordid>eNqNkF1v0zAUhi3ExMrgLyBfIO6S-diOHd8gTVW7ja0DpqFJcGE5iTNc8lHsRGv_Pe5SDS658Yf8vO-xHoQwkBQI46frFAQhCRFEpZQQkioCOaTbF2j2_PASzYgiNOGcwzF6HcI6glSBfIWOgSghQJIZ-rEaBzO4vjMNNnHZBRdwX-Php8XD2Pajx2HcbLwNoff4wXYWr1Znczj9cre4wa7DrWncQ2e6Abc72_SuwpWLaGV9eIOOatME-_awn6Bvy8Xd_CK5_nx-OT-7TkouKCRF_Dops7JgXDAJLI8XKG1OJauKXFleSEWl4iwzNYcKbFFTobIqjxlgzLIT9GHq3fj-92jDoFsXSts0prP9GLSkFPKMZRHMJ7D0fQje1nrjXWv8TgPRe7F6rff-9N6f3ovVT2L1NkbfHWaMRWurf4KTyQi8PwAmlKapvelKF_5yPGNUqYh9nLBH19jdf8_Xi08XT8dYkEwFLgx2-1xg_C8tJJOZvr851_dXt9-Xy1uhv7I_b0SiOg</recordid><startdate>200008</startdate><enddate>200008</enddate><creator>Aggerholm, Anni</creator><creator>Grønbæk, Kirsten</creator><creator>Guldberg, Per</creator><creator>Hokland, Peter</creator><general>Munksgaard International Publishers</general><general>Blackwell</general><scope>BSCLL</scope><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>200008</creationdate><title>Mutational analysis of the tumour suppressor gene MMAC1/PTEN in malignant myeloid disorders</title><author>Aggerholm, Anni ; Grønbæk, Kirsten ; Guldberg, Per ; Hokland, Peter</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4621-b1810c5cb346371380c51ce8273db89e4b79279435af41d1ebf2695d8c5c133e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2000</creationdate><topic>Acute Disease</topic><topic>acute myeloid leukemia</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>chronic myeloid leukemia</topic><topic>DNA Mutational Analysis</topic><topic>DNA, Neoplasm - genetics</topic><topic>Electrophoresis, Agar Gel</topic><topic>Exons - genetics</topic><topic>Gene Deletion</topic><topic>Genes, Tumor Suppressor - genetics</topic><topic>Hematologic and hematopoietic diseases</topic><topic>HL-60 Cells</topic><topic>Humans</topic><topic>Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics</topic><topic>Leukemia, Myeloid - genetics</topic><topic>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</topic><topic>Medical sciences</topic><topic>MMAC1</topic><topic>Mutation</topic><topic>myelodysplastic syndromes</topic><topic>Myelodysplastic Syndromes - genetics</topic><topic>Phosphoric Monoester Hydrolases - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>PTEN</topic><topic>PTEN Phosphohydrolase</topic><topic>Tumor Cells, Cultured</topic><topic>Tumor Suppressor Proteins</topic><topic>U937 Cells</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Aggerholm, Anni</creatorcontrib><creatorcontrib>Grønbæk, Kirsten</creatorcontrib><creatorcontrib>Guldberg, Per</creatorcontrib><creatorcontrib>Hokland, Peter</creatorcontrib><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of haematology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Aggerholm, Anni</au><au>Grønbæk, Kirsten</au><au>Guldberg, Per</au><au>Hokland, Peter</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutational analysis of the tumour suppressor gene MMAC1/PTEN in malignant myeloid disorders</atitle><jtitle>European journal of haematology</jtitle><addtitle>Eur J Haematol</addtitle><date>2000-08</date><risdate>2000</risdate><volume>65</volume><issue>2</issue><spage>109</spage><epage>113</epage><pages>109-113</pages><issn>0902-4441</issn><eissn>1600-0609</eissn><coden>EJHAEC</coden><abstract>: The candidate tumour suppressor gene MMAC1/PTEN located at chromosome 10q23.3 has been reported to be frequently mutated in a number of solid tumours. Less is known about its status in leukaemia. In the present study we first analysed 13 leukaemia cell lines for mutations and homozygous deletions in MMAC1/PTEN using PCR and denaturing gradient gel electrophoresis (DGGE). We identified an intragenic deletion including MMAC1/PTEN exons 2–5 in an acute myelocytic leukaemia cell line, HL‐60 blast, and an insertion of four nucleotides in exon 5 in an acute monocytic leukaemia cell line, U937. Analysis of 59 patients with acute myeloid leukaemia (AML), 26 patients with myelodysplastic syndromes (MDS) and 10 patients with chronic myeloid leukaemia (CML) only revealed a polymorphic base substitution in codon 44 in one AML patient, suggesting that mutations in the MMAC1/PTEN gene are infrequent genetic aberrations in myeloid leukaemia.</abstract><cop>Copenhagen</cop><pub>Munksgaard International Publishers</pub><pmid>10966170</pmid><doi>10.1034/j.1600-0609.2000.90181.x</doi><tpages>5</tpages></addata></record>
fulltext	fulltext
identifier	ISSN: 0902-4441
ispartof	European journal of haematology, 2000-08, Vol.65 (2), p.109-113
issn	0902-4441 1600-0609
language	eng
recordid	cdi_proquest_miscellaneous_72218535
source	Wiley-Blackwell Read & Publish Collection
subjects	Acute Disease acute myeloid leukemia Base Sequence Biological and medical sciences chronic myeloid leukemia DNA Mutational Analysis DNA, Neoplasm - genetics Electrophoresis, Agar Gel Exons - genetics Gene Deletion Genes, Tumor Suppressor - genetics Hematologic and hematopoietic diseases HL-60 Cells Humans Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics Leukemia, Myeloid - genetics Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis Medical sciences MMAC1 Mutation myelodysplastic syndromes Myelodysplastic Syndromes - genetics Phosphoric Monoester Hydrolases - genetics Polymerase Chain Reaction PTEN PTEN Phosphohydrolase Tumor Cells, Cultured Tumor Suppressor Proteins U937 Cells
title	Mutational analysis of the tumour suppressor gene MMAC1/PTEN in malignant myeloid disorders
url	http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-07T15%3A11%3A05IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutational%20analysis%20of%20the%20tumour%20suppressor%20gene%20MMAC1/PTEN%20in%20malignant%20myeloid%20disorders&rft.jtitle=European%20journal%20of%20haematology&rft.au=Aggerholm,%20Anni&rft.date=2000-08&rft.volume=65&rft.issue=2&rft.spage=109&rft.epage=113&rft.pages=109-113&rft.issn=0902-4441&rft.eissn=1600-0609&rft.coden=EJHAEC&rft_id=info:doi/10.1034/j.1600-0609.2000.90181.x&rft_dat=%3Cproquest_cross%3E72218535%3C/proquest_cross%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c4621-b1810c5cb346371380c51ce8273db89e4b79279435af41d1ebf2695d8c5c133e3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=72218535&rft_id=info:pmid/10966170&rfr_iscdi=true