Absence of KMT2D/MLL2 mutations in abdominal paraganglioma

Clinical Endocrinology

Volumn 84, Issue 4, 2016, Pages 632-634

  Stenman, Adam ^a   Juhlin, Carl C ^a,b   Haglund, Felix ^a   Brown, Taylor C ^a,b   Clark, Victoria E ^b   Svahn, Fredrika ^a   Bilguvar, Kaya ^b   Goh, Gerald ^b,c   Korah, Reju ^b   Lifton, Richard P ^b,c   Carling, Tobias ^b  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE METHYLTRANSFERASE; MESSENGER RNA; MISSENSE LYSINE K SPECIFIC METHYLTRANSFERASE 2D; MIXED LINEAGE LEUKEMIA PROTEIN; MIXED LINEAGE LEUKEMIA PROTEIN 2; PROTEIN; TRANSFORMING GROWTH FACTOR BETA; UNCLASSIFIED DRUG; DNA BINDING PROTEIN; MLL2 PROTEIN, HUMAN; TUMOR PROTEIN;

ADRENAL MEDULLA; CELL MOTILITY; GENE DOSAGE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HISTONE METHYLATION; HUMAN; LETTER; PARAGANGLIOMA; PC12 CELL LINE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; SOMATIC MUTATION; ABDOMINAL TUMOR; GENE EXPRESSION REGULATION; GENETICS; IMMUNOHISTOCHEMISTRY; METABOLISM; MUTATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ABDOMINAL NEOPLASMS; DNA-BINDING PROTEINS; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; IMMUNOHISTOCHEMISTRY; MUTATION; NEOPLASM PROTEINS; PARAGANGLIOMA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 84960255953     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12884     Document Type: Letter

References (5)

1. Dahia, P.L.M., (2014) Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nature Reviews Cancer, 14, 108-119.
2. Juhlin, C.C., Stenman, A., Haglund, F., et al,. (2015) Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene. Genes Chromosomes and Cancer, 54, 542-554.
3. Welander, J., Andreasson, A., Juhlin, C.C., et al,. (2014) Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma. Journal of Clinical Endocrinology and Metabolism, 99, E1352-E1360.
4. Welander, J., Andreasson, A., Brauckhoff, M., et al,. (2014) Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma. Endocrine Related Cancer, 21, 495-504.
5. Castro-Vega, L.J., Letouzé, E., Burnichon, N., et al,. (2015) Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas. Nature Communications, 6, 6044.