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01-09-2016 | Case Report

Rosai–Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation

Authors: Vignesh Shanmugam, Elizabeth Margolskee, Michael Kluk, Tamara Giorgadze, Attilio Orazi

Published in: Head and Neck Pathology | Issue 3/2016

Abstract

Rosai–Dorfman disease (RDD) or sinus histiocytosis with massive lymphadenopathy is a rare histiocytic proliferation that is generally considered to be reactive with a benign clinical course. The etiology of RDD is very poorly understood. Recent studies have shown frequent BRAF, NRAS, KRAS, and PIK3CA activating mutations in several histiocytic neoplasms highlighting the emerging importance of the RAF/MEK/ERK pathway in the pathogenesis of these diseases. Here we report a case of Rosai–Dorfman disease involving the submandibular salivary gland with a KRAS K117N missense mutation discovered by next-generation sequencing. These results suggest that at least a subset of RDD cases may be clonal processes. Further mutational studies on this rare histiocytic disease should be undertaken to better characterize its pathogenesis as well as open up potential avenues for therapy.

Swerdlow SH. WHO classification of tumours of haematopoietic and lymphoid tissues. Geneva: World Health Organization; 2008.

Weitzman S, Jaffe R. Uncommon histiocytic disorders: the non-Langerhans cell histiocytoses. Pediatr Blood Cancer. 2005;45(3):256–64. doi:10.1002/pbc2246.CrossRefPubMed

Paulli M, Bergamaschi G, Tonon L, et al. Evidence for a polyclonal nature of the cell infiltrate in sinus histiocytosis with massive lymphadenopathy (Rosai–Dorfman disease). Br J Haematol. 1995;91(2):415–8.CrossRefPubMed

Middel P, Hemmerlein B, Fayyazi A, Kaboth U, Radzun HJ. Sinus histiocytosis with massive lymphadenopathy: evidence for its relationship to macrophages and for a cytokine-related disorder. Histopathology. 1999;35(6):525–33.CrossRefPubMed

Badalian-Very G, Vergilio J-A, Degar BA, et al. Recurrent BRAF mutations in Langerhans cell histiocytosis. Blood. 2010;116(11):1919–23. doi:10.1182/blood-2010-04-279083.CrossRefPubMedPubMedCentral

Chakraborty R, Hampton OA, Shen X, et al. Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis. Blood. 2014;124(19):3007–15. doi:10.1182/blood-2014-05-577825.CrossRefPubMedPubMedCentral

Emile J-F, Diamond EL, Hélias-Rodzewicz Z, et al. Recurrent RAS and PIK3CA mutations in Erdheim–Chester disease. Blood. 2014;124(19):3016–9. doi:10.1182/blood-2014-04-570937.CrossRefPubMedPubMedCentral

Go H, Jeon YK, Huh J, et al. Frequent detection of BRAF(V600E) mutations in histiocytic and dendritic cell neoplasms. Histopathology. 2014;65(2):261–72. doi:10.1111/his.12416.CrossRefPubMed

Haroche J, Charlotte F, Arnaud L, et al. High prevalence of BRAF V600E mutations in Erdheim–Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012;120(13):2700–3. doi:10.1182/blood-2012-05-430140.CrossRefPubMed

10.

Goodnight JW, Wang MB, Sercarz JA, Fu YS. Extranodal Rosai–Dorfman disease of the head and neck. Laryngoscope. 1996;106(3 Pt 1):253–6.CrossRefPubMed

11.

Güven G, Ilgan S, Altun C, Gerek M, Gunhan O. Rosai Dorfman disease of the parotid and submandibular glands: salivary gland scintigraphy and oral findings in two siblings. Dentomaxillofac Radiol. 2007;36(7):428–33. doi:10.1259/dmfr/39858276.CrossRefPubMed

12.

Hyman DM, Diamond EL, Vibat CRT, et al. Prospective blinded study of BRAFV600E mutation detection in cell-free DNA of patients with systemic histiocytic disorders. Cancer Discov. 2015;5(1):64–71. doi:10.1158/2159-8290.CD-14-0742.CrossRefPubMed

13.

Chen T-D, Lee L. Rosai–Dorfman disease presenting in the parotid gland with features of IgG4-related sclerosing disease. Arch Otolaryngol Head Neck Surg. 2011;137(7):705–8. doi:10.1001/archoto.2011.52.CrossRefPubMed

14.

Dahlgren M, Smetherman DH, Wang J, Corsetti RL. Rosai–Dorfman disease of the breast and parotid gland. J La State Med Soc. 2008;160(1):35–8.PubMed

15.

Juskevicius R, Finley JL. Rosai–Dorfman disease of the parotid gland: cytologic and histopathologic findings with immunohistochemical correlation. Arch Pathol Lab Med. 2001;125(10):1348–50. doi:10.1043/0003-9985(2001)125<1348:RDDOTP>2.0.CO;2.PubMed

16.

Norman L, Bateman AC, Watters GW, Singh V, Spedding AV. Rosai–Dorfman disease presenting as a parotid mass. J Laryngol Otol. 1997;111(11):1091–3.CrossRefPubMed

17.

Dalia S, Sagatys E, Sokol L, Kubal T. Rosai–Dorfman disease: tumor biology, clinical features, pathology, and treatment. Cancer Control. 2014;21(4):322–7.PubMed

18.

Dion E, Graef C, Miquel A, et al. Bone involvement in Erdheim–Chester disease: imaging findings including periostitis and partial epiphyseal involvement. Radiology. 2006;238(2):632–9. doi:10.1148/radiol.2382041525.CrossRefPubMed

19.

Thawerani H, Sanchez RL, Rosai J, Dorfman RF. The cutaneous manifestations of sinus histiocytosis with massive lymphadenopathy. Arch Dermatol. 1978;114(2):191–7.CrossRefPubMed

20.

Cohen-Barak E, Rozenman D, Schafer J, et al. An unusual co-occurrence of Langerhans cell histiocytosis and Rosai–Dorfman disease: report of a case and review of the literature. Int J Dermatol. 2014;53(5):558–63. doi:10.1111/ijd.12051.CrossRefPubMed

21.

O’Malley DP, Duong A, Barry TS, et al. Co-occurrence of Langerhans cell histiocytosis and Rosai–Dorfman disease: possible relationship of two histiocytic disorders in rare cases. Mod Pathol. 2010;23(12):1616–23. doi:10.1038/modpathol.2010.157.CrossRefPubMed

22.

Sachdev R, Shyama J. Co-existent Langerhans cell histiocytosis and Rosai–Dorfman disease: a diagnostic rarity. Cytopathology. 2008;19(1):55–8. doi:10.1111/j.1365-2303.2006.00428.x.PubMed

23.

Wang K-H, Cheng C-J, Hu C-H, Lee W-R. Coexistence of localized Langerhans cell histiocytosis and cutaneous Rosai–Dorfman disease. Br J Dermatol. 2002;147(4):770–4.CrossRefPubMed

24.

Pineles SL, Liu GT, Acebes X, et al. Presence of Erdheim–Chester disease and Langerhans cell histiocytosis in the same patient: a report of 2 cases. J Neuroophthalmol. 2011;31(3):217–23. doi:10.1097/WNO.0b013e31820a204e.CrossRefPubMed

25.

Venkataraman G, McClain KL, Pittaluga S, Rao VK, Jaffe ES. Development of disseminated histiocytic sarcoma in a patient with autoimmune lymphoproliferative syndrome and associated Rosai–Dorfman disease. Am J Surg Pathol. 2010;34(4):589–94. doi:10.1097/PAS.0b013e3181d5ddf8.CrossRefPubMedPubMedCentral

26.

Agarwal A, Pathak S, Gujral S. Sinus histiocytosis with massive lymphadenopathy–a review of seven cases. Indian J Pathol Microbiol. 2006;49(4):509–15.PubMed

27.

Krzemieniecki K, Pawlicki M, Margañska K, Parczewska J. The Rosai–Dorfman syndrome in a 17-year-old woman with transformation into high-grade lymphoma. A rare disease presentation. Ann Oncol. 1996;7(9):977.CrossRefPubMed

28.

Zaletel K, Gaberšček S. Hashimoto’s thyroiditis: from genes to the disease. Curr Genomics. 2011;12(8):576–88. doi:10.2174/138920211798120763.CrossRefPubMedPubMedCentral

29.

Kim KH, Suh KS, Kang DW, Kang DY. Mutations of the BRAF gene in papillary thyroid carcinoma and in Hashimoto’s thyroiditis. Pathol Int. 2005;55(9):540–5.CrossRefPubMed

30.

Jaiswal S, Fontanillas P, Flannick J, Manning A, Grauman PV, Mar BG, Lindsley RC, Mermel CH, Burtt N, Chavez A, Higgins JM, Moltchanov V, Kuo FC, Kluk MJ, Henderson B, Kinnunen L, Koistinen HA, Ladenvall C, Getz G, Correa A, Banahan BF, Gabriel S, Kathiresan S, Stringham HM, McCarthy MI, Boehnke M, Tuomilehto J, Haiman C, Groop L, Atzmon G, Wilson JG, Neuberg D, Altshuler D, Ebert BL. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371(26):2488–98. doi:10.1056/NEJMoa1408617 (Epub 2014 Nov 26).CrossRefPubMedPubMedCentral

31.

Nelson DS, van Halteren A, Quispel WT, et al. MAP2K1 and MAP3K1 mutations in Langerhans cell histiocytosis. Genes Chromosomes Cancer. 2015;54(6):361–8. doi:10.1002/gcc.22247.CrossRefPubMed

32.

Dhillon AS, Hagan S, Rath O, Kolch W. MAP kinase signalling pathways in cancer. Oncogene. 2007;26(22):3279–90. doi:10.1038/sj.onc.1210421.CrossRefPubMed

33.

Zhao Y, Adjei AA. The clinical development of MEK inhibitors. Nat Rev Clin Oncol. 2014;11(7):385–400. doi:10.1038/nrclinonc.2014.83.CrossRefPubMed

34.

Diamond EL, Durham BH, Haroche J, et al. Diverse and targetable kinase alterations drive histiocytic neoplasms. Cancer Discov. 2015;. doi:10.1158/2159-8290.CD-15-0913.PubMedCentral

35.

Smith G, Bounds R, Wolf H, Steele RJC, Carey FA, Wolf CR. Activating K-Ras mutations outwith “hotspot” codons in sporadic colorectal tumours–implications for personalised cancer medicine. Br J Cancer. 2010;102(4):693–703. doi:10.1038/sj.bjc.6605534.CrossRefPubMedPubMedCentral

36.

Dulak AM, Stojanov P, Peng S, et al. Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity. Nat Genet. 2013;45(5):478–86. doi:10.1038/ng.2591.CrossRefPubMedPubMedCentral

37.

Papaemmanuil E, Gerstung M, Malcovati L, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122(22):3616–27. doi:10.1182/blood-2013-08-518886 (quiz 3699).CrossRefPubMedPubMedCentral

38.

Stolze B, Reinhart S, Bulllinger L, Fröhling S, Scholl C. Comparative analysis of KRAS codon 12, 13, 18, 61, and 117 mutations using human MCF10A isogenic cell lines. Sci Rep. 2015;5:8535. doi:10.1038/srep08535.CrossRefPubMedPubMedCentral

39.

Su F, Bradley WD, Wang Q, et al. Resistance to selective BRAF inhibition can be mediated by modest upstream pathway activation. Cancer Res. 2012;72(4):969–78. doi:10.1158/0008-5472.CAN-11-1875.CrossRefPubMed

40.

Gatalica Z, Bilalovic N, Palazzo JP, et al. Disseminated histiocytoses biomarkers beyond BRAFV600E: frequent expression of PD-L1. Oncotarget. 2015;6(23):19819–25.CrossRefPubMedPubMedCentral

41.

Carrasco DR, Fenton T, Sukhdeo K, et al. The PTEN and INK4A/ARF tumor suppressors maintain myelolymphoid homeostasis and cooperate to constrain histiocytic sarcoma development in humans. Cancer Cell. 2006;9(5):379–90. doi:10.1016/j.ccr.2006.03.028.CrossRefPubMed

42.

Hayase E, Kurosawa M, Yonezumi M, Suzuki S, Suzuki H. Aggressive sporadic histiocytic sarcoma with immunoglobulin heavy chain gene rearrangement and t(14;18). Int J Hematol. 2010;92(4):659–63. doi:10.1007/s12185-010-0704-8.CrossRefPubMed

Title: Rosai–Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation
Authors: Vignesh Shanmugam
Elizabeth Margolskee
Michael Kluk
Tamara Giorgadze
Attilio Orazi
Publication date: 01-09-2016
Publisher: Springer US
Published in: Head and Neck Pathology / Issue 3/2016
Electronic ISSN: 1936-0568
DOI: https://doi.org/10.1007/s12105-016-0709-6

At a glance: The STEP trials

Springer Medicine

Rosai–Dorfman Disease Harboring an Activating KRAS K117N Missense Mutation

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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