LIST OF TUMOR MORPHOLOGIES (PART 24) - LISTE DE MORPHOLOGIES TUMORALES (PARTIE 24)

LIST OF TUMOR MORPHOLOGIES:

Tumor types are classified according to the International Classification of Diseases for Oncology (ICD-O), 3rd Edition, World Health Organization, Geneva, 2000. The ICD-O-3 is a dual classification and coding system for both morphology and topography of a neoplasm.

The MORPHOLOGY code (Mxxxx/x) indicates the specific histologic term.

The TOPOGRAPHY code (C00-C80) is occasionally mentioned here.

Abbreviation: NOS, not otherwise specified

LISTE DE MORPHOLOGIES TUMORALES

Les types de tumeurs sont classés en fonction de la « Classification Internationale des Maladies pour l'Oncologie (CIM-O), 3e édition, Organisation mondiale de la Santé, Genève, 2000. La CIM-O-3 est un système de classification et de codage pour la morphologie et la topographie d'une tumeur.

Le code de MORPHOLOGIE (Mxxxx/x) indique le terme spécifique histologique.

Le code de TOPOGRAPHIE (C00-C80) est occasionnellement mentionné ici.

Abréviation: SAI, sans autre indication

M949	GANGLIONEUROBLASTOMA	GANGLIONEUROBLASTOME
M9490/0	Ganglioneuroma
	Ganglioneurome
M9490/3	Ganglioneuroblastoma
	Ganglioneuroblastome
M9492/0	Gangliocytoma
	Gangliocytome
M9493/0	Dysplastic gangliocytoma of cerebellum		C71.6
	Ganlioneurome diffus du cortex du cervelet

M950	NEUROBLASTOMA, NOS	NEUROBLASTOME, SAI
M9500/3	Neuroblastoma, NOS
	Neuroblastome, SAI
M9501/3	Medulloepithelioma, NOS
	Médullo-épithéliome, SAI
M9502/3	Teratoid medulloepithelioma
	Médullo-épithéliome teratoïde
M9503/3	Neuroepithelioma, NOS
	Neuro-épithéliome, SAI
M9504/3	Spongioneuroblastoma
	Spongioneuroblastome
M9505/1	Ganglioglioma
	Gangliogliome
M9505/3	Ganglioma, anaplastic
	Gangliome, anaplasique
M9506/1	Central neurocytoma
	Neurocytome central
M9508/3	Atypical teratoid/rhabdoid tumor		C71._
	Tumeur rhabdoïde/tératoïde atypique

M951	RETINOBLASTOMA, NOS	RETINOBLASTOME, SAI
M9510/3	Retinoblastoma, NOS		C69.2
	Rétinoblastome, SAI
M9511/3	Retinoblastoma, differentiated		C69.2
	Rétinoblastome différencié
M9512/3	Retinoblastoma, undifferentiated		C69.2
	Rétinoblastome indifférencié
M9513/3	Retinoblastoma, diffuse		C69.2
	Rétinoblastome diffus

M952	OLFACTORY NEUROGENIC TUMOR	TUMEUR NEUROGÈNE OLFACTIVE
M9520/3	Olfactory neurogenic tumor
	Tumeur neurogène olfactive
M9521/3	Olfactory neurocytoma		C30.0
	Neurocytome olfactif
M9522/3	Olfactory neuroblastoma		C30.0
	Neuroblastome olfactif
M9523/3	Olfactory neuroepithelioma		C30.0
	Neuroépithéliome olfactif

Anticancer molecules (67) – Molécules anticancéreuses (67) - chlorambucil

CHLORAMBUCIL

Name: chlorambucil

Commercial names: Ambochlorin, Amboclorin, Leukeran, Linfolizin

Pharmacological class: alkylating agent

Therapeutic class: antineoplastic

Action: chlorambucil, an aromatic derivative of mechlorethamine, is closely related in structure to melphalan and is a bifunctional alkylating agent. DNA alkylation by the reactive ethylenimonium radical results in breaks in the DNA molecule as well as cross-linking of the twin strands, thus interfering with DNA replication and transcription of RNA

In 2011, chlorambucil is approved for palliative treatment of:

            ● chronic lymphocytic leukemia;

            ● Hodgkin lymphoma;

            ● non-Hodgkin lymphoma (certain types).

***

Nom: chlorambucile

Noms commerciaux: Ambochlorin, Amboclorin, Leukeran, Linfolizin

Classe pharmacologique: agent alkylant

Classe thérapeutique: antinéoplasiques

Action: le chlorambucile est un dérivé aromatique de la méchloréthamine. Sur le plan structurel, il est étroitement lié au melphalan. Il est un agent alkylant bifonctionnel. L’alkylation de l'ADN par le radical réactif ethylenimonium entraîne des ruptures dans la molécule ainsi que la réticulation des brins doubles, ce qui interfère avec la réplication de l'ADN et la transcription de l'ARN.

En 2011, le chlorambucile est approuvé pour le traitement palliatif de:

            ● la leucémie lymphoïde chronique ;

            ● les lymphomes hodgkiniens ;

            ● certains types de lymphomes non hodgkiniens.

Focus: ESR1 Is Co-Expressed with Closely Adjacent Uncharacterised Genes Spanning a Breast Cancer Susceptibility Locus at 6q25.1

Approximately 80% of human breast carcinomas present as oestrogen receptor α-positive (ER+ve) disease, and ER status is a critical factor in treatment decision-making. Recently, single nucleotide polymorphisms (SNPs) in the region immediately upstream of the ER gene (ESR1) on 6q25.1 have been associated with breast cancer risk. Our investigation of factors associated with the level of expression of ESR1 in ER+ve tumours has revealed unexpected associations between genes in this region and ESR1 expression that are important to consider in studies of the genetic causes of breast cancer risk. RNA from tumour biopsies taken from 104 postmenopausal women before and after 2 weeks treatment with an aromatase (oestrogen synthase) inhibitor was analyzed on Illumina 48K microarrays. Multiple-testing corrected Spearman correlation revealed that three previously uncharacterized open reading frames (ORFs) located immediately upstream of ESR1, C6ORF96, C6ORF97, and C6ORF211 were highly correlated with ESR1 (Rs = 0.67, 0.64, and 0.55 respectively, FDR,161027). Publicly available datasets confirmed this relationship in other groups of ER+ve tumours. DNA copy number changes did not account for the correlations. The correlations were maintained in cultured cells. An ERα antagonist did not affect the ORFs’ expression or their correlation with ESR1, suggesting their transcriptional co-activation is not directly mediated by ERα.siRNA inhibition of C6ORF211 suppressed proliferation in MCF7 cells, and C6ORF211 positively correlated with a proliferation metagene in tumours. In contrast, C6ORF97 expression correlated negatively with the metagene and predicted for improved disease-free survival in a tamoxifen-treated published dataset, independently of ESR1. Our observations suggest that some of the biological effects previously attributed to ER could be mediated and/or modified by these co-expressed genes. The co-expression and function of these genes may be important influences on the recently identified relationship between SNPs in this region and breast cancer risk.

Source: ESR1 Is Co-Expressed with Closely Adjacent Uncharacterised Genes Spanning a Breast Cancer Susceptibility Locus at 6q25.1. Anita K. Dunbier (anita.dunbier@icr.ac.uk), Helen Anderson, Zara Ghazoui, Elena Lopez-Knowles, Sunil Pancholi, Ricardo Ribas, Suzanne Drury, Kally Sidhu, Alexandra Leary, Lesley-Ann Martin, Mitch Dowsett. PLoS Genet 7(4): e1001382 (2011)

Free article available at : http://www.plosgenetics.org/article/fetchObjectAttachment.action?uri=info%3Adoi%2F10.1371%2Fjournal.pgen.1001382&representation=PDF

Environ 80% des carcinomes mammaires humains présentent des récepteur d’oestrogènes α (ROα+) et le « statut du RO » est un facteur critique pour le traitement. Récemment, des polymorphismes de nucléotide simple (PNS) observés dans la région immédiatement en amont du gène ERα (ESR1) sur 6q25.1 ont été associés au risque de cancer du sein. Notre enquête sur les facteurs associés avec le niveau d'expression d’ESR1 dans les tumeurs ROα+ a révélé des associations inattendues entre des gènes dans cette région et l’expression d’ESR1 qui semblent importantes à considérer dans les études sur les causes génétiques de risque de cancer du sein. Il est apparu que trois « phases ouvertes de lecture » non définies auparavant et situées immédiatement en amont d’ESR1, C6ORF96, C6ORF97 et C6ORF211 étaient fortement corrélées avec ESR1. Les ensembles de données publiques disponibles ont confirmé cette relation dans d'autres groupes de tumeurs ROα+. Un antagoniste du ROα n'a pas affecter l'expression des « phases ouvertes de lecture » ou leur corrélation avec ESR1, suggérant leur co-activation transcriptionnelle n'est pas directement médiée par une inhibition du ERα. L’inhibition de C6ORF211 par un siRNA a supprimé la prolifération dans les cellules MCF7. Dans les tumeurs, C6ORF211 est positivement corrélée avec une metagene de prolifération. En revanche, l'expression de C6ORF97 est corrélée négativement avec le metagene et prédit une meilleure survie sans maladie, indépendamment de ESR1, dans un ensemble de données de patientes traitées au tamoxifène. Nos observations suggèrent que certains des effets biologiques précédemment attribué à ER pourrait être médiés et / ou modifiés par ces gènes co-exprimés.

Article (en anglais) librement accessible à l’adresse: : http://www.plosgenetics.org/article/fetchObjectAttachment.action?uri=info%3Adoi%2F10.1371%2Fjournal.pgen.1001382&representation=PDF

Mutated genes in cancer (34) – FAM123B

FAM123B (also known as WTX and AMER1)

In databases:

● Entrez (http://www.ncbi.nlm.nih.gov/sites/gquery): 139285 or FAM123B

● Ensembl (http://www.ensembl.org/index.html): ENSG00000184675

● UniProt (http://www.uniprot.org/): Q5JTC6

● OMIM (http://www.ncbi.nlm.nih.gov/omim): 300647

● GeneCards (http://www.genecards.org/): FAM123B

● HGNC (http://www.genenames.org/): 26837 or FAM123B

Gene locus:

Xq11.2

Protein name:

Family with sequence similarity 123B

Protein Size:

1135 amino acids; about 124 kDa

Function:

Fam123B forms a protein complex with β -catenin, axin1, β-transducin repeat-containing protein 2 (β-TrCP2) and APC and negatively regulates the Wnt signaling pathway by promoting the ubiquitination and degradation of β-catenin. Fam123B also plays a role in the recruitment of APC from microtubules to the plasma membrane and appears to be involved in the maintenance of intercellular junctions. Fam123B enhances trancription activation by the Wilms tumor protein (WT1).

Cancer-related alterations:

Somatic tumor-specific FAM123B mutations have been observed in kidney and colorectal cancers and in acute myeloid leukemia (AML). In Wilms tumors, the most commonly observed mutation is the deletion of the entire FAM123B gene. Truncation mutations and missense mutations have also been observed. 7-29% of Wilms tumors show deletions or mutations of FAM123B. Inactivating mutations in FAM123B (deletions and truncating/frameshift mutations) appear to be negatively correlated in Wilms tumors with activating mutations in exon 3 of CTNNB1 (encoding β-catenin), implicating the activation of the Wnt signaling pathway in the formation of Wilms tumors since both inactivating mutations of FAM123B and activating mutations of CTNNB1 function to activate this signaling pathway.

References (open access):

The tumor suppressor WTX shuttles to the nucleus and modulates WT1 activity. Rivera MN, Kim WJ, Wells J, Stone A, Burger A, Coffman EJ, Zhang J, Haber DA. Proc Natl Acad Sci U S A. 2009 May 19;106(20):8338-43.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2677091/pdf/zpq8338.pdf

The WTX/AMER1 gene family: evolution, signature and function. Boutet A, Comai G, Schedl A. BMC Evol Biol. 2010 Sep 15;10:280.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2949870/pdf/1471-2148-10-280.pdf