Ganglioglioma arising in a Peutz-Jeghers patient: A case report with molecular implications

Acta Neuropathologica

Volumn 112, Issue 1, 2006, Pages 106-111

  Resta, Nicoletta ^a   Lauriola, Libero ^b   Puca, Alfredo ^c   Susca, Francesco C ^a   Albanese, Alessio ^c   Sabatino, Giovanni ^c   Di Giacomo, Marilena C ^a   Gessi, Marco ^b,d   Guanti, Ginevra ^a  

^a UNIVERSITY OF BARI   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c CATHOLIC UNIVERSITY   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

Exon skipping; Ganglioglioma; LKB1; Peutz Jeghers syndrome; Splicing

Indexed keywords

ISOPROTEIN; NUCLEOTIDE; PROTEIN KINASE LKB1; RNA;

ADULT; ALLELE; ARTICLE; CASE REPORT; CODON; DOWNSTREAM PROCESSING; EXON; FEMALE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GLIOMA; HETERODUPLEX ANALYSIS; HISTOPATHOLOGY; HUMAN; PATHOGENESIS; PEUTZ JEGHERS SYNDROME; PRIORITY JOURNAL; RNA ANALYSIS; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; WILD TYPE;

ADULT; BASE SEQUENCE; BRAIN NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; GANGLIOGLIOMA; GENE EXPRESSION; GENE EXPRESSION PROFILING; HUMANS; MAGNETIC RESONANCE IMAGING; MOLECULAR SEQUENCE DATA; MUTATION; PEUTZ-JEGHERS SYNDROME; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEIN-SERINE-THREONINE KINASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 33745412166     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-006-0084-6     Document Type: Article

References (16)

1. Blümcke I, Wiestler OD (2002) Gangliogliomas: An intriguing tumor entity associated with focal epilepsies. J Neuropathol Exp Neurol 61:575-584
2. Corradetti MN, Inoki K, Bardeesy N, DePinho RA, Guan KL (2004) Regulation of the TSC pathway by LKB1: Evidence of a molecular link between tuberous sclerosis complex and Peutz-Jeghers syndrome. Genes Dev 18:1533-1538
3. Entius MM, Keller JJ, Westerman AM, Van Rees BP, Van Velthuysen ML, de Goeij AF, Wilson JH, Giardiello FM, Offerhaus GJ (2001) Molecular genetic alterations in hamartomatous polyps and carcinomas of patients with Peutz-Jeghers syndrome. J Clin Pathol 54:126-131
4. Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Hoglund P, Jarvinen H, Kristo P, Pelin K, Ridanpaa M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA (1998) A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391:184-187
5. Iborra FJ, Jackson DA, Cook PR (2001) Coupled transcription and translation within nuclei of mammalian cells. Science 29:1139-1142
6. Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R, Muller O, Back W, Zimmer M (1998) Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 18:38-43
7. Kam R, Chen J, Blumcke I, Normann S, Fassunke J, Elger CE, Schramm J, Wiestler OD, Becker AJ (2004) The reelin pathway components disabled-1 and p35 in gangliogliomas - a mutation and expression analysis. Neuropathol Appl Neurobiol 30:225-232
8. Mehenni H, Lin-Marq N, Buchet-Poyau K, Reymond A, Collart MA, Picard D, Antonarakis SE (2005) LKB1 interacts with and phosphorylates PTEN: A functional link between two proteins involved in cancer predisposing syndromes. Hum Mol Genet 14:2209-2219
9. Nelson JS, Bruner JM, Wiestler OD, Vandenberg SR (2000) Ganglioglioma and gangliocytoma. In: Kleihues P, Cavenee WK (eds) Pathology and genetics. Tumours of the nervous system. IARC Press, Lyon, pp 96-98
10. Parry L, Maynard JH, Patel A, Hodges AK, von Deimling A, Sampson JR, Cheadle JP (2000) Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours. Hum Genet 107:350-356
11. Resta N, Simone C, Mareni C, Montera M, Gentile M, Susca F, Gristina R, Pozzi S, Bertario L, Bufo P, Carlomagno N, Ingrosso M, Rossini FP, Tenconi R, Guanti G (1998) STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer. Cancer Res 58:4799-4801
12. Resta N, Stella A, Susca FC, Di Giacomo M, Forleo G, Miccolis I, Rossini FP, Genuardi M, Piepoli A, Grammatico P, Guanti G (2002) Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients. Hum Mutat 20:78-79
13. Spicer J, Ashworth A (2004) LKB1 kinase: Master and commander of metabolism and polarity. Curr Biol 14:R383-R385
14. Trojan J, Brieger A, Raedle J, Esteller M, Zeuzem S (2000) 5′ - CpG island methylation of the LKB1/STK11 promoter and allelic loss at chromosome 19p13.3 in sporadic colorectal cancer. Gut 47:272-276
15. Yoo LI, Chung DC, Yuan J (2002) LKB1 - a master tumour suppressor of the small intestine and beyond. Nat Rev Cancer 2:529-535
16. Zerbe LK, Pino I, Pio R, Cosper PF, Dwyer-Nield LD, Meyer AM, Port JD, Montuenga LM, Malkinson AM (2004). Relative amounts of antagonistic splicing factors, hnRNP A1 and ASF/SF2, change during neoplastic lung growth: Implications for pre-mRNA processing. Mol Carcinog 41:87-96