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Article ; Online: Pathogenic variants in three families with distal muscle involvement.

Weterman, Marian A J / Bronk, Marieke / Jongejan, Aldo / Hoogendijk, Jessica E / Krudde, Judith / Karjosukarso, Dyah / Goebel, Hans H / Aronica, Eleonora / Jöbsis, G Joost / van Ruissen, Fred / van Spaendonck-Zwarts, Karin Y / de Visser, Marianne / Baas, Frank

Neuromuscular disorders : NMD

2022 Volume 33, Issue 1, Page(s) 58–64

Abstract: Three families suspected of distal hereditary motor neuropathy underwent genetic screening with the aim to identify the molecular defect underlying the disease. The description of the identification reflects the shift in molecular diagnostics that was ... ...

Abstract	Three families suspected of distal hereditary motor neuropathy underwent genetic screening with the aim to identify the molecular defect underlying the disease. The description of the identification reflects the shift in molecular diagnostics that was made during the last decades. Our candidate gene approach yielded a known pathogenic variant in BSCL2 (p.Asn88Ser) in one family, and via a CMT-capture, in HSPB1 (p.Arg127Trp), in addition to five other variations in Charcot-Marie-Tooth-related genes in the proband of the second family. In the third family, using whole exome sequencing, followed by linkage-by-location, a three base pair deletion in exon 33 of MYH7 (p.Glu1508del) was found, a reported pathogenic allele albeit for a myopathy. After identification of the causative molecular defect, cardiac examination was performed for patients of the third family and this demonstrated abnormalities in three out of five affected family members. Heterogeneity and expansion of clinical phenotypes beyond known characteristics requires a wider set of genes to be screened. Whole exome/genome analysis with limited prior clinical information may therefore be used to precede a detailed clinical evaluation in cases of large families, preventing screening of a too narrow set of genes, and enabling the identification of novel disease-associated genes. In our cases, the variants had been reported, and co-segregation analysis confirmed the molecular diagnosis.
MeSH term(s)	Humans ; Charcot-Marie-Tooth Disease/genetics ; Genetic Testing ; Muscles ; Mutation ; Phenotype
Chemical Substances	BSCL2 protein, human ; HSPB1 protein, human ; MYH7 protein, human
Language	English
Publishing date	2022-11-29
Publishing country	England
Document type	Journal Article
ZDB-ID	1077681-3
ISSN	1873-2364 ; 0960-8966
ISSN (online)	1873-2364
ISSN	0960-8966
DOI	10.1016/j.nmd.2022.11.007
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Zs.A 3258: Show issues

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Article ; Online: LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P.

Hakonen, Johanna E / Sorrentino, Vincenzo / Avagliano Trezza, Rossella / de Wissel, Marit B / van den Berg, Marlene / Bleijlevens, Boris / van Ruissen, Fred / Distel, Ben / Baas, Frank / Zelcer, Noam / Weterman, Marian A J

Human molecular genetics

2017 Volume 26, Issue 11, Page(s) 2034–2041

Abstract: Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift (FS) mutation in the ... ...

Abstract	Charcot-Marie-Tooth (CMT) disease type 2 is a genetically heterogeneous group of inherited neuropathies characterized by motor and sensory deficits as a result of peripheral axonal degeneration. We recently reported a frameshift (FS) mutation in the Really Interesting New Gene finger (RING) domain of LRSAM1 (c.2121_2122dup, p.Leu708Argfs) that encodes an E3 ubiquitin ligase, as the cause of axonal-type CMT (CMT2P). However, the frequency of LRSAM1 mutations in CMT2 and the functional basis for their association with disease remains unknown. In this study, we evaluated LRSAM1 mutations in two large Dutch cohorts. In the first cohort (n = 107), we sequenced the full LRSAM1 coding exons in an unbiased fashion, and, in the second cohort (n = 468), we specifically sequenced the last, RING-encoding exon in individuals where other CMT-associated genes had been ruled out. We identified a novel LRSAM1 missense mutation (c.2120C > T, p.Pro707Leu) mapping to the RING domain. Based on our genetic analysis, the occurrence of pathogenic LRSAM1 mutations is estimated to be rare. Functional characterization of the FS, the identified missense mutation, as well as of another recently reported pathogenic missense mutation (c.2081G > A, p.Cys694Tyr), revealed that in vitro ubiquitylation activity was largely abrogated. We demonstrate that loss of the E2-E3 interaction that is an essential prerequisite for supporting ubiquitylation of target substrates, underlies this reduced ubiquitylation capacity. In contrast, LRSAM1 dimerization and interaction with the bona fide target TSG101 were not disrupted. In conclusion, our study provides further support for the role of LRSAM1 in CMT and identifies LRSAM1-mediated ubiquitylation as a common determinant of disease-associated LRSAM1 mutations.
MeSH term(s)	Axons/metabolism ; Axons/physiology ; Base Sequence ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/metabolism ; Exons ; Female ; Frameshift Mutation ; Genetic Testing ; Humans ; Male ; Mutation ; Mutation, Missense/genetics ; Netherlands ; Protein Domains ; Ubiquitin-Protein Ligases/genetics ; Ubiquitin-Protein Ligases/metabolism ; Ubiquitination
Chemical Substances	LRSAM1 protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
Language	English
Publishing date	2017-06-01
Publishing country	England
Document type	Journal Article
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddx089
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Article ; Online: Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.

Weterman, Marian A J / Kuo, Molly / Kenter, Susan B / Gordillo, Sara / Karjosukarso, Dyah W / Takase, Ryuichi / Bronk, Marieke / Oprescu, Stephanie / van Ruissen, Fred / Witteveen, Ron J W / Bienfait, Henriette M E / Breuning, Martijn / Verhamme, Camiel / Hou, Ya-Ming / de Visser, Marianne / Antonellis, Anthony / Baas, Frank

Human molecular genetics

2018 Volume 27, Issue 23, Page(s) 4036–4050

Abstract: Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer RNA (tRNA). We identified three novel ... ...

Abstract	Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes implicated in several dominant and recessive disease phenotypes. The canonical function of ARSs is to couple an amino acid to a cognate transfer RNA (tRNA). We identified three novel disease-associated missense mutations in the alanyl-tRNA synthetase (AARS) gene in three families with dominant axonal Charcot-Marie-Tooth (CMT) disease. Two mutations (p.Arg326Trp and p.Glu337Lys) are located near a recurrent pathologic change in AARS, p.Arg329His. The third (p.Ser627Leu) is in the editing domain of the protein in which hitherto only mutations associated with recessive encephalopathies have been described. Yeast complementation assays demonstrated that two mutations (p.Ser627Leu and p.Arg326Trp) represent loss-of-function alleles, while the third (p.Glu337Lys) represents a hypermorphic allele. Further, aminoacylation assays confirmed that the third mutation (p.Glu337Lys) increases tRNA charging velocity. To test the effect of each mutation in the context of a vertebrate nervous system, we developed a zebrafish assay. Remarkably, all three mutations caused a pathological phenotype of neural abnormalities when expressed in zebrafish, while expression of the human wild-type messenger RNA (mRNA) did not. Our data indicate that not only functional null or hypomorphic alleles, but also hypermorphic AARS alleles can cause dominantly inherited axonal CMT disease.
MeSH term(s)	Adult ; Alanine-tRNA Ligase/genetics ; Alleles ; Amino Acids/genetics ; Amino Acyl-tRNA Synthetases/genetics ; Animals ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/pathology ; Female ; Gene Expression Regulation, Enzymologic/genetics ; Genetic Heterogeneity ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Pedigree ; RNA, Transfer/genetics ; Yeasts/genetics ; Zebrafish/genetics
Chemical Substances	Amino Acids ; RNA, Transfer (9014-25-9) ; Amino Acyl-tRNA Synthetases (EC 6.1.1.-) ; Alanine-tRNA Ligase (EC 6.1.1.7)
Language	English
Publishing date	2018-08-15
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddy290
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Article: A LRSAM1 mutation links Charcot-Marie-Tooth type 2 to Parkinson's disease.

Aerts, Marjolein B / Weterman, Marian A J / Quadri, Marialuisa / Schelhaas, H Jurgen / Bloem, Bastiaan R / Esselink, Rianne A / Baas, Frank / Bonifati, Vincenzo / van de Warrenburg, Bart P

Annals of clinical and translational neurology

2016 Volume 3, Issue 2, Page(s) 146–149

Abstract: LRSAM1 mutations have been found in recessive and dominant forms of Charcot-Marie-Tooth disease. Within one generation of the original Dutch family in which the dominant LRSAM1 mutation was identified, three of the five affected family members have ... ...

Abstract	LRSAM1 mutations have been found in recessive and dominant forms of Charcot-Marie-Tooth disease. Within one generation of the original Dutch family in which the dominant LRSAM1 mutation was identified, three of the five affected family members have developed Parkinson's disease between ages 50 and 65 years, many years after neuropathy onset. We speculate that this late-onset parkinsonism is part of the LRSAM1 phenotype, thus associating a hitherto peripheral nerve disease with a central nervous system phenotype. How the mutated Lrsam1 protein, which normally has E3 ubiquitin ligase activity and is expressed in the nervous system, impacts on substantia nigra neurons is unclear.
Language	English
Publishing date	2016-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	2740696-9
ISSN	2328-9503
ISSN	2328-9503
DOI	10.1002/acn3.281
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Article: A novel region of amplification at 11p12-13 in gastric cancer, revealed by representational difference analysis, is associated with overexpression of CD44v6, especially in early-onset gastric carcinomas.

Carvalho, Ralph / Milne, Anya N A / Polak, Mirjam / Offerhaus, G Johan A / Weterman, Marian A J

Genes, chromosomes & cancer

2006 Volume 45, Issue 10, Page(s) 967–975

Abstract: Diffuse-type gastric carcinomas (GCs) are often difficult to characterize because of contamination of tumor samples by surrounding normal tissue. As such, information regarding chromosomal aberrations in this subtype of GCs is limited. In this study, we ... ...

Abstract	Diffuse-type gastric carcinomas (GCs) are often difficult to characterize because of contamination of tumor samples by surrounding normal tissue. As such, information regarding chromosomal aberrations in this subtype of GCs is limited. In this study, we used representational difference analysis to pinpoint genomic amplifications occurring in diffuse-type GCs. We found nine differential products from two novel regions of amplification in two tumors: one product mapped to 19p13.1 and eight mapped to a 1.8-Mb region in chromosomal segment 11p12-13. These amplifications were confirmed using Southern blot analysis and occurred in 3/16 and 6/15 diffuse-type GCs, respectively. CD44, a well characterized cellular adhesion molecule involved in several human malignancies, is encoded by a gene located within 200 kb of the 11p12-13 amplification fragments. We confirmed that overexpression of isoform CD44v6 was correlated with amplification at 11p12-13 in 11/12 diffuse-type GCs. Since diffuse-type GCs occur more frequently in early-onset gastric carcinomas (EOGCs, presented at 45 years of age or younger) than in "conventional" GCs, and the tumors carrying the original amplifications were EOGCs, we investigated overexpression of CD44v6 in 107 EOGCs and 88 conventional GCs using tissue microarrays. We found frequent CD44v6 overexpression in both tumor groups (76% and 57% respectively) and, interestingly, significantly more cases with overexpression of CD44v6 in EOGCs than in conventional GCs (P = 0.005), irrespective of histology. These findings provide further evidence for both the relevance of CD44 in GC and for distinct molecular characteristics of EOGCs when compared with those of GCs occurring at a later age.
MeSH term(s)	Adenocarcinoma/genetics ; Adenocarcinoma/metabolism ; Age of Onset ; Chromosomes, Human, Pair 11/genetics ; Gene Amplification ; Gene Expression Regulation, Neoplastic/physiology ; Glycoproteins/genetics ; Humans ; Hyaluronan Receptors/genetics ; Middle Aged ; Stomach Neoplasms/genetics ; Stomach Neoplasms/metabolism
Chemical Substances	CD44v6 antigen ; Glycoproteins ; Hyaluronan Receptors
Language	English
Publishing date	2006-10
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	1018988-9
ISSN	1098-2264 ; 1045-2257
ISSN (online)	1098-2264
ISSN	1045-2257
DOI	10.1002/gcc.20360
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Zs.A 2966: Show issues

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Article: Molecular analysis of primary gastric cancer, corresponding xenografts, and 2 novel gastric carcinoma cell lines reveals novel alterations in gastric carcinogenesis.

Milne, Anya N A / Sitarz, Robert / Carvalho, Ralph / Polak, Mirjam M / Ligtenberg, Marjolijn / Pauwels, Patrick / Offerhaus, G Johan A / Weterman, Marian A J

Human pathology

2007 Volume 38, Issue 6, Page(s) 903–913

Abstract: We report the molecular characterization of 8 primary gastric carcinomas, corresponding xenografts, and 2 novel gastric carcinoma cell lines. We compared the tumors and cell lines, with respect to histology, immunohistochemistry, copy number, and ... ...

Abstract	We report the molecular characterization of 8 primary gastric carcinomas, corresponding xenografts, and 2 novel gastric carcinoma cell lines. We compared the tumors and cell lines, with respect to histology, immunohistochemistry, copy number, and hypermethylation of up to 38 genes using methylation-specific multiplex ligation-dependent probe amplification, and TP53 and CDH1 mutation analysis where relevant. The primary tumors and xenografts were histologically comparable and shared expression of 11 of 14 immunohistochemical markers (E-cadherin, beta-catenin, COX-2, p53, p16, TFF1, cyclin E, MLH1, SMAD4, p27, KLK3, CASR, CHFR, and DAPK1). Gains of CASR, DAPK1, and KLK3--not yet described in gastric cancer--were present in the primary tumors, xenografts, and cell lines. The most prominent losses occurred at CDKN2A (p16), CDKN2B (p15), CDKN1B (p27/KIP1), and ATM. Except for ATM, these losses were found only in the cell line or xenograft, suggesting an association with tumor progression. However, examination of p16 and p27 in 174 gastric cancers using tissue microarrays revealed no significant correlation with tumor stage or lymph node status. Further losses and hypermethylation were detected for MLH1, CHFR, RASSF1, and ESR, and were also seen in primary tumors. Loss of CHFR expression correlated significantly with the diffuse phenotype. Interestingly, we found the highest rate of methylation in primary tumors which gave rise to cell lines. In addition, both cell lines harbored mutations in CDH1, encoding E-cadherin. Xenografts and gastric cancer cell lines remain an invaluable research tool in the uncovering of the multistep progression of cancer. The frequent gains, losses, and hypermethylation reported in this study indicate that the involved genes or chromosomal regions may be relevant to gastric carcinogenesis.
MeSH term(s)	Adenocarcinoma/genetics ; Aged ; Aged, 80 and over ; Animals ; Biomarkers, Tumor/analysis ; Cell Line, Tumor ; CpG Islands ; DNA Methylation ; Epigenesis, Genetic ; Humans ; Immunohistochemistry ; Mice ; Middle Aged ; Neoplasm Transplantation ; Neoplasms, Experimental/genetics ; Reverse Transcriptase Polymerase Chain Reaction ; Stomach Neoplasms/genetics ; Tissue Array Analysis ; Transplantation, Heterologous
Chemical Substances	Biomarkers, Tumor
Language	English
Publishing date	2007-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	207657-3
ISSN	1532-8392 ; 0046-8177
ISSN (online)	1532-8392
ISSN	0046-8177
DOI	10.1016/j.humpath.2006.12.010
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Zs.A 722: Show issues

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Article ; Online: A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.

Weterman, Marian A J / Sorrentino, Vincenzo / Kasher, Paul R / Jakobs, Marja E / van Engelen, Baziel G M / Fluiter, Kees / de Wissel, Marit B / Sizarov, Aleksander / Nürnberg, Gudrun / Nürnberg, Peter / Zelcer, Noam / Schelhaas, H Jurgen / Baas, Frank

Human molecular genetics

2011 Volume 21, Issue 2, Page(s) 358–370

Abstract: Despite the high number of genes identified in hereditary polyneuropathies/Charcot-Marie-Tooth (CMT) disease, the genetic defect in many families is still unknown. Here we report the identification of a new gene for autosomal dominant axonal neuropathy ... ...

Abstract	Despite the high number of genes identified in hereditary polyneuropathies/Charcot-Marie-Tooth (CMT) disease, the genetic defect in many families is still unknown. Here we report the identification of a new gene for autosomal dominant axonal neuropathy in a large three-generation family. Linkage analysis identified a 5 Mb region on 9q33-34 with a LOD score of 5.12. Sequence capture and next-generation sequencing of the region of interest identified five previously unreported non-synonymous heterozygous single nucleotide changes or indels, four of which were confirmed by Sanger sequencing. Two sequence variants co-segregated with the disease, and one, a 2 bp insertion in the last exon of LRSAM1, was also absent in 676 ethnicity-matched control chromosomes. This frameshift mutation (p.Leu708Argfx28) is located in the C-terminal RING finger motif of the encoded protein. Ubiquitin ligase activity in transfected cells with constructs carrying the patient mutation was affected as measured by a higher level of abundance of TSG101, the only reported target of LRSAM1. Injections of morpholino oligonucleotides in zebrafish embryos directed against the ATG or last splice site of zebrafish Lrsam1 disturbed neurodevelopment, showing a less organized neural structure and, in addition, affected tail formation and movement. LRSAM1 is highly expressed in adult spinal cord motoneurons as well as in fetal spinal cord and muscle tissue. Recently, a homozygous mutation in LRSAM1 was proposed as a strong candidate for the disease in a family with recessive axonal polyneuropathy. Our data strongly support the hypothesis that LRSAM1 mutations can cause both dominant and recessive forms of CMT.
MeSH term(s)	Chromosomes, Human, Pair 9 ; Female ; Frameshift Mutation ; Genes, Dominant ; Humans ; Lod Score ; Male ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; Ubiquitin-Protein Ligases/genetics
Chemical Substances	LRSAM1 protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
Language	English
Publishing date	2011-10-19
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddr471
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Zs.A 3469: Show issues

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Article: Exclusion of RUNX3 as a tumour-suppressor gene in early-onset gastric carcinomas.

Carvalho, Ralph / Milne, Anya N A / Polak, Mirjam / Corver, Willem E / Offerhaus, G Johan A / Weterman, Marian A J

Oncogene

2005 Volume 24, Issue 56, Page(s) 8252–8258

Abstract: Recent studies claim a critical role for RUNX3 in gastric epithelial homeostasis. However, conflicting results exist regarding RUNX3 expression in the stomach and its potential role as a tumour-suppressor gene (TSG) in gastric carcinogenesis. Our aim was ...

Abstract	Recent studies claim a critical role for RUNX3 in gastric epithelial homeostasis. However, conflicting results exist regarding RUNX3 expression in the stomach and its potential role as a tumour-suppressor gene (TSG) in gastric carcinogenesis. Our aim was to evaluate the role of RUNX3 in early-onset gastric carcinomas (EOGCs). We analysed 41 EOGCs for RUNX3 aberrations using loss of heterozygosity (LOH), fluorescence in situ hybridization (FISH) and immunohistochemistry (IHC) analyses. LOH of markers flanking RUNX3 was relatively common, indicating that loss of the gene may play a role in gastric carcinogenesis. However, FISH analysis of selected cases and a panel of 14 gastric carcinoma-derived cell lines showed widespread presence of multiple copies of centromere 1. While RUNX3 copy numbers were generally equal to or fewer than those of centromere 1, at least two copies were present in almost all cells analysed. Accordingly, a subpopulation of tumour cells in 12/37 cases showed RUNX3 protein expression. However, expression was not detected in the adjacent nontumorous mucosa of any case. Together, these observations indicate that chromosome 1 aberrations occur frequently in EOGCs and are reflected in the LOH and IHC patterns found. Our findings refute a role for RUNX3 as a TSG in EOGCs.
MeSH term(s)	Adolescent ; Adult ; Aged ; Aged, 80 and over ; Carcinoma/genetics ; Carcinoma/pathology ; Cell Line, Tumor ; Core Binding Factor Alpha 3 Subunit/genetics ; Core Binding Factor Alpha 3 Subunit/physiology ; Genes, Tumor Suppressor ; Humans ; In Situ Hybridization, Fluorescence ; Middle Aged ; Neoplasm Proteins/genetics ; Neoplasm Proteins/physiology ; Stomach Neoplasms/genetics ; Stomach Neoplasms/pathology ; Tumor Suppressor Proteins/genetics ; Tumor Suppressor Proteins/physiology
Chemical Substances	Core Binding Factor Alpha 3 Subunit ; Neoplasm Proteins ; Runx3 protein, human ; Tumor Suppressor Proteins
Language	English
Publishing date	2005-12-15
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	639046-8
ISSN	1476-5594 ; 0950-9232
ISSN (online)	1476-5594
ISSN	0950-9232
DOI	10.1038/sj.onc.1208963
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Zs.A 2218: Show issues

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Article ; Online: Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease.

Weterman, Marian A J / van Ruissen, Fred / de Wissel, Marit / Bordewijk, Lou / Samijn, Johnny P A / van der Pol, W Ludo / Meggouh, Farid / Baas, Frank

European journal of human genetics : EJHG

2009 Volume 18, Issue 4, Page(s) 421–428

Abstract: In several individuals with a Charcot-Marie-Tooth (CMT) phenotype, we found a copy number variation (CNV) on chromosome 17p12 in the direct vicinity of the peripheral myelin protein 22 (PMP22) gene. The exact borders and size of this CNV were determined ... ...

Abstract	In several individuals with a Charcot-Marie-Tooth (CMT) phenotype, we found a copy number variation (CNV) on chromosome 17p12 in the direct vicinity of the peripheral myelin protein 22 (PMP22) gene. The exact borders and size of this CNV were determined by Southern blot analysis, MLPA, vectorette PCR, and microarray hybridization analyses. All patients from six apparently unrelated families carried an identical 186-kb duplication different from the commonly reported 1.5-Mb duplication associated with CMT1A. This ancestral mutation that was not reported in the human structural variation database was only detected in affected individuals and family members. It was absent in 2124 control chromosomes and 40 patients with a chronic inflammatory demyelinating polyneuropathy (CIDP) and therefore should be regarded as causative for the disease. This variant escapes most routine diagnostic screens for CMT1A, because copy numbers of PMP22 probes were all normal. No indications were found for the involvement of the genes that are located within this duplication. A possible association of this duplication with a mutation in the PMP22 coding regions was also excluded. We suggest that this CNV proximal of the PMP22 gene leads to CMT through an unknown mechanism affecting PMP22 expression.
MeSH term(s)	Adult ; Blotting, Southern ; Charcot-Marie-Tooth Disease/genetics ; Chromosome Segregation ; Comparative Genomic Hybridization ; Female ; Gene Dosage/genetics ; Gene Duplication ; Genetic Variation/genetics ; Haplotypes ; Humans ; Male ; Microtubule Proteins/genetics ; Middle Aged ; Mutation/genetics ; Myelin Proteins/genetics ; Myelin Proteins/metabolism ; Oligonucleotide Array Sequence Analysis ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Young Adult
Chemical Substances	Microtubule Proteins ; Myelin Proteins ; PMP22 protein, human ; tektins
Language	English
Publishing date	2009-11-04
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/ejhg.2009.186
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Zs.A 3589: Show issues

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Article: Do collision tumors of the gastroesophageal junction exist? A molecular analysis.

Milne, Anya N A / Carvalho, Ralph / van Rees, Bas P / van Lanschot, Jan J B / Offerhaus, G Johan A / Weterman, Marian A J

The American journal of surgical pathology

2004 Volume 28, Issue 11, Page(s) 1492–1498

Abstract: Collision tumors are thought to arise from the accidental meeting of two independent tumors. Here we present five gastroesophageal junction tumors consisting of two collision tumors and three composite tumors (characterized by two divergent lineages ... ...

Abstract	Collision tumors are thought to arise from the accidental meeting of two independent tumors. Here we present five gastroesophageal junction tumors consisting of two collision tumors and three composite tumors (characterized by two divergent lineages originating from the same neoplastic clonal proliferation), as diagnosed on histology. In an attempt to prove this distinction at a genetic level, we performed TP53 sequence analysis and p53 immunohistochemistry. In addition, loss of heterozygosity (LOH) analysis using 10 microsatellite markers was carried out. An identical TP53 mutation and a similar pattern of retention and LOH were found in both neoplastic components of the presumed collision tumors, suggesting that both components are derived from a single precursor cell that undergoes divergent differentiation in the evolution of the tumor. In the composite group, 1 case had a genetic basis for the possible diagnosis of a collision tumor, with a TP53 mutation in the adenocarcinoma component only, and a different pattern of retention and loss of heterozygosity. These findings imply that it is not possible to recognize true collision tumors from immunohistologic appearance alone and suggest that the long-standing histologic criteria for the diagnosis of these neoplasms have no molecular basis.
MeSH term(s)	Adenocarcinoma/genetics ; Adenocarcinoma/pathology ; Carcinoma, Squamous Cell/genetics ; Carcinoma, Squamous Cell/pathology ; Esophageal Neoplasms/genetics ; Esophageal Neoplasms/pathology ; Esophagogastric Junction ; Genes, p53/genetics ; Humans ; Loss of Heterozygosity/genetics ; Microsatellite Repeats/genetics ; Mutation/genetics ; Sequence Analysis, DNA/methods ; Stomach Neoplasms/genetics ; Stomach Neoplasms/pathology
Language	English
Publishing date	2004-10-13
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	752964-8
ISSN	1532-0979 ; 0147-5185
ISSN (online)	1532-0979
ISSN	0147-5185
DOI	10.1097/01.pas.0000138184.74496.4d
Database	MEDical Literature Analysis and Retrieval System OnLINE

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