Pulmonary langerhans cell histiocytosis: Profiling of multifocal tumors using next-generation sequencing identifies concordant occurrence of BRAF V600E mutations

Chest

Volumn 143, Issue 6, 2013, Pages 1679-1684

  Yousem, Samuel A ^a   Dacic, Sanja ^a   Nikiforov, Yuri E ^a   Nikiforova, Marina ^a  

^a PRESBYTERIAN UNIVERSITY HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; DNA;

ADULT; AGED; ARTICLE; BRAF GENE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; LANGERHANS CELL HISTIOCYTOSIS; LUNG NODULE; MALE; MUTATIONAL ANALYSIS; ONCOGENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PULOMONARY LANGERHANS CELL HISTIOCYTOSIS;

EID: 84878618536     PISSN: 00123692     EISSN: 19313543     Source Type: Journal    
DOI: 10.1378/chest.12-1917     Document Type: Article

References (34)

1. Aubry MC, Wright JL, Myers JL. The pathology of smokingrelated lung diseases. Clin Chest Med. 2000;21(1):11-35.
2. Desai SR, Ryan SM, Colby TV. Smoking-related interstitial lung diseases: histopathological and imaging perspectives. Clin Radiol. 2003;58(4):259-268.
3. Hansell DM, Nicholson AG. Smoking-related diffuse parenchymal lung disease: HRCT-pathologic correlation. Semin Respir Crit Care Med. 2003;24(4):377-392.
4. Travis WD, Borok Z, Roum JH, et al. Pulmonary Langerhans cell granulomatosis (histiocytosis X). A clinicopathologic study of 48 cases. Am J Surg Pathol. 1993;17(10):971-986.
5. Vassallo R, Ryu JH, Colby TV, Hartman T, Limper AH. Pulmonary Langerhans'-cell histiocytosis. N Engl J Med. 2000;342(26):1969-1978.
6. Betts DR, Leibundgut KE, Feldges A, Plüss HJ, Niggli FK. Cytogenetic abnormalities in Langerhans cell histiocytosis. Br J Cancer. 1998;77(4):552-555.
7. Chikwava KR, Hunt JL, Mantha GS, Murphy JE, Jaffe R. Analysis of loss of heterozygosity in single-system and multisystem Langerhans' cell histiocytosis. Pediatr Dev Pathol. 2007;10(1):18-24.
8. Cotter FE, Pritchard J. Clonality in Langerhans' cell histiocytosis . BMJ. 1995;310(6972):74-75.
9. da Costa CET, Szuhai K, van Eijk R, et al. No genomic aberrations in Langerhans cell histiocytosis as assessed by diverse molecular technologies. Genes Chromosomes Cancer. 2009;48(3):239-249.
10. Dacic S, Trusky C, Bakker A, Finkelstein SD, Yousem SA. Genotypic analysis of pulmonary Langerhans cell histiocytosis. Hum Pathol. 2003;34(12):1345-1349.
11. De Filippi P, Badulli C, Cuccia M, et al. Specific polymorphisms of cytokine genes are associated with different risks to develop single-system or multi-system childhood Langerhans cell histiocytosis. Br J Haematol. 2006;132(6):784-787.
12. Egeler RM, Annels NE, Hogendoorn PC. Langerhans cell histiocytosis: a pathologic combination of oncogenesis and immune dysregulation. Pediatr Blood Cancer. 2004;42(5):401-403.
13. Murakami I, Gogusev J, Fournet JC, Glorion C, Jaubert F. Detection of molecular cytogenetic aberrations in Langerhans cell histiocytosis of bone. Hum Pathol. 2002;33(5):555-560.
14. Rodig SJ, Payne EG, Degar BA, et al. Aggressive Langerhans cell histiocytosis following T-ALL: clonally related neoplasms with persistent expression of constitutively active NOTCH1. Am J Hematol. 2008;83(2):116-121.
15. Weintraub M, Bhatia KG, Chandra RS, Magrath IT, Ladisch S. p53 expression in Langerhans cell histiocytosis. J Pediatr Hematol Oncol. 1998;20(1):12-17.
16. Wu WS, McClain KL. DNA polymorphisms and mutations of the tumor necrosis factor-alpha (TNF-alpha) promoter in Langerhans cell histiocytosis (LCH). J Interferon Cytokine Res. 1997;17(10):631-635.
17. Yousem SA, Colby TV, Chen YY, Chen WG, Weiss LM. Pulmonary Langerhans' cell histiocytosis: molecular analysis of clonality. Am J Surg Pathol. 2001;25(5):630-636.
18. Badalian-Very G, Vergilio JA, Degar BA, et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010;116(11):1919-1923.
19. Kamionek M, Welch M, Tomaszewicz K, et al. BRAF mutation analysis in pulmonary Langerhans cell histiocytosis [abstract]. Mod Pathol. 2012;25(suppl 2):479A.
20. Satoh T, Smith A, Sarde A, et al. B-RAF mutant alleles associated with Langerhans cell histiocytosis, a granulomatous pediatric disease [published correction in PLoS One. 2012;7(6)]. PLoS ONE. 2012;7(4): e33891.
21. Nikiforov YE, Ohori NP, Hodak SP, et al. Impact of mutational testing on the diagnosis and management of patients with cytologically indeterminate thyroid nodules: a prospective analysis of 1056 FNA samples. J Clin Endocrinol Metab. 2011;96(11):3390-3397.
22. De Oliveira Duarte Achcar R, Nikiforova MN, Yousem SA. Micropapillary lung adenocarcinoma: EGFR, K-ras, and BRAF mutational profile. Am J Clin Pathol. 2009;131(5):694-700.
23. Amaria RN, Lewis KD, Jimeno A. Vemurafenib: the road to personalized medicine in melanoma. Drugs Today (Barc). 2012;48(2):109-118.
24. Chang DT, Pai RK, Rybicki LA, et al. Clinicopathologic and molecular features of sporadic early-onset colorectal adenocarcinoma: an adenocarcinoma with frequent signet ring cell differentiation, rectal and sigmoid involvement, and adverse morphologic features. Mod Pathol. 2012;25(8):1128-1139.
25. Finn L, Markovic SN, Joseph RW. Therapy for metastatic melanoma: the past, present, and future. BMC Med. 2012;10:23.
26. Kudchadkar R, Paraiso KH, Smalley KS. Targeting mutant BRAF in melanoma: current status and future development of combination therapy strategies. Cancer J. 2012;18(2):124-131.
27. Nikiforov YE. Molecular diagnostics of thyroid tumors. Arch Pathol Lab Med. 2011;135(5):569-577.
28. Pai RK, Jayachandran P, Koong AC, et al. BRAF-mutated, microsatellite-stable adenocarcinoma of the proximal colon: an aggressive adenocarcinoma with poor survival, mucinous differentiation, and adverse morphologic features. Am J Surg Pathol. 2012;36(5):744-752.
29. Paik PK, Arcila ME, Fara M, et al. Clinical characteristics of patients with lung adenocarcinomas harboring BRAF mutations . J Clin Oncol. 2011;29(15):2046-2051.
30. Yokota T, Ura T, Shibata N, et al. BRAF mutation is a powerful prognostic factor in advanced and recurrent colorectal cancer. Br J Cancer. 2011;104(5):856-862.
31. Yousem SA, Nikiforova M, Nikiforov Y. The histopathology of BRAF-V600E-mutated lung adenocarcinoma. Am J Surg Pathol. 2008;32(9):1317-1321.
32. Nikiforov YE, Nikiforova MN. Molecular genetics and diagnosis of thyroid cancer. Nat Rev Endocrinol. 2011;7(10):569-580.
33. Nezelof C, Basset F. Langerhans cell histiocytosis research. Past, present, and future. Hematol Oncol Clin North Am. 1998;12(2):385-406.
34. Nezelof C, Basset F. An hypothesis Langerhans cell histiocytosis: the failure of the immune system to switch from an innate to an adaptive mode. Pediatr Blood Cancer. 2004;42(5):398-400.