Skip to main content

Advertisement

SpringerLink
Log in

Oral Juvenile Xanthogranuloma: A Clinicopathological, Immunohistochemical and BRAF V600E Study of Five New Cases, with Literature Review

  • Original Paper
  • Published:
Head and Neck Pathology Aims and scope Submit manuscript

Abstract

Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis and oral mucosal involvement is exceedingly rare. Histiocytic disorders harbor activating mutations in MAPK pathway, including the report of BRAF V600E in JXG of extracutaneous site. However, no information is available for oral JXG. Herein, the clinicopathological and immunohistochemical features of five new oral JXG were evaluated in conjunction with literature review. Also, we assessed the BRAF V600E in oral samples. Five oral JXG were retrieved from pathology archives. Morphological and immunohistochemical analyses were performed. The BRAF V600E status was determined with TaqMan allele-specific qPCR. The series comprised of three female and two male patients, most of them adults, with a median age of 39 years (range 13–68 years). Clinically, the lesions appeared as asymptomatic solitary nodules, measuring until 2.5 cm, with more incident to the buccal mucosa. Morphologically, most of the cases presented classical histological features of JXG, with histiocytic cells consistent with the non-Langerhans cell immunophenotype. BRAF V600E was not detected in the cases tested. This is the first and largest published series of oral JXG affecting adults and a Brazilian population. The molecular pathogenesis of oral JXG remains unknown. Clinicians and pathologists must recognize JXG to avoid misdiagnoses with oral benign or malignant lesions.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

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

    Article  Google Scholar 

  2. Luder CM, Nordmann TM, Ramelyte E, Mühleisen B, Kerl K, Guenova E, et al. Histiocytosis - cutaneous manifestations of hematopoietic neoplasm and non-neoplastic histiocytic proliferations. J Eur Acad Dermatol Venereol. 2018;32(6):926–34.

    Article  CAS  Google Scholar 

  3. Sánchez-Romero C, Cuenca Arriaga AI, Paes de Almeida O, Gutiérrez Cortés E. Oral juvenile xanthogranuloma in a child: clinical, histological and immunohistochemical profile of a rare entity. J Cutan Pathol. 2018;45(7):515–21.

    Article  Google Scholar 

  4. Consolaro A, Sant’Ana E, Lawall MA, Consolaro MF, Bacchi CE. Gingival juvenile xanthogranuloma in an adult patient: case report with immunohistochemical analysis and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endodontol. 2009;107(2):246–52.

    Article  Google Scholar 

  5. Batista AC, Mendonça EF, Arantes Elias LS, Andrade BA, Almeida OP, León JE. Nonlipidized juvenile xanthogranuloma: an unusual variant with a potential diagnostic pitfall. Int J Pediatr Otorhinolaryngol. 2012;76(2):295–9.

    Article  Google Scholar 

  6. Israel MS, Carlos R, Pires FR. Oral juvenile xanthogranuloma: report of two cases. Pediatr Dent. 2017;39(3):238–40.

    PubMed  Google Scholar 

  7. Fabrizi G, Massi G. Mononuclear variant of juvenile xanthogranuloma in the oral cavity of an adult patient. Br J Dermatol. 2001;144(4):909–11.

    Article  CAS  Google Scholar 

  8. Flaitz C, Allen C, Neville B, Hicks J. Juvenile xanthogranuloma of the oral cavity in children: a clinicopathologic study. Oral Surg Oral Med Oral Pathol Oral Radiol Endodontol. 2002;94(3):345–52.

    Article  Google Scholar 

  9. Techavichit P, Sosothikul D, Chaichana T, Teerapakpinyo C, Thorner PS, Shuangshoti S. BRAF V600E mutation in pediatric intracranial and cranial juvenile xanthogranuloma. Hum Pathol. 2017;69:118–22.

    Article  CAS  Google Scholar 

  10. Haroche J, Charlotte F, Arnaud L, von Deimling A, Hélias-Rodzewicz Z, Hervier B, 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.

    Article  CAS  Google Scholar 

  11. Chakraborty R, Hampton OA, Shen X, Simko SJ, Shih A, Abhyankar H, 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.

    Article  CAS  Google Scholar 

  12. Chakraborty R, Hampton OA, Abhyankar H, Zinn DJ, Grimes A, Skull B, et al. Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma. Oncotarget. 2017;8(28):46065–70.

    Article  Google Scholar 

  13. Hoyt BS, Yan S, Linos KD, Momtahen S, Sriharan A, Tran TN, et al. BRAF V600E mutations are not an oncogenic driver of solitary xanthogranuloma and reticulohistiocytoma: testing may be useful in screening for Erdheim-Chester disease. Exp Mol Pathol. 2019;111:104320.

    Article  CAS  Google Scholar 

  14. Picarsic J, Pysher T, Zhou H, Fluchel M, Pettit T, Whitehead M, et al. BRAF V600E mutation in juvenile xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease. Acta Neuropathol Commun. 2019;7(1):168.

    Article  CAS  Google Scholar 

  15. Adamson NF. Congenital xanthoma multiplex in a child. Br J Dermatol. 1905;17:222–3.

    Google Scholar 

  16. Costa F, Cian R, Robiony M, Zerman N, Politi M. Unilateral swelling of the cheek. J Oral Maxillofac Surg. 2008;66(2):342–8.

    Article  Google Scholar 

  17. Chen CY, Sung CL, Mu-Yen H, Wen-Chen W, Li-Min L, Yuk-Kwan C. An adult juvenile xanthogranuloma in the buccal mucosa. J Dent Sci. 2015;10(3):334–7.

    Article  Google Scholar 

  18. Kjaerkeim A, Stokke T. Juvenile xanthogranuloma of the oral cavity. An electron microscopic study. Oral Surg Oral Med Oral Pathol. 1974;38(3):414–25.

    Article  CAS  Google Scholar 

  19. Christensen RE Jr, Hertz RS, Cherrick HM. Intraoral juvenile xanthogranuloma. Oral Surg Oral Med Oral Pathol. 1978;45(4):586–90.

    Article  Google Scholar 

  20. Ossoff RH, Levin DL, Esterly NB, Tucker GF. Intraoral and cutaneous juvenile xanthogranuloma. Ann Otol Rhinol Laryngol. 1980;89(3 Pt 1):268–70.

    Article  CAS  Google Scholar 

  21. Takeda Y, Suzuki A, Fujioka Y, Takayama K. Xanthogranuloma of the oral cavity in adult. A case report and review of the literature. Acta Pathol Jpn. 1986;36(10):1565–70.

    CAS  PubMed  Google Scholar 

  22. Vasconcelos FO, Oliveira LA, Naves MD, Castro WH, Gomez RS. Juvenile xanthogranuloma: case report with immunohistochemical identification of early and late cytomegalovirus antigens. J Oral Sci. 2001;43(1):21–5.

    Article  CAS  Google Scholar 

  23. Kim YK, Han D, Yang WI, Park JH, Cho ES, Kim DW. Gingival juvenile xanthogranuloma. Korean J Oral Maxillofac Pathol. 2019;43(5):203–7.

    Article  Google Scholar 

  24. Cohen DM, Brannon RB, Davis LD, Miller AS. Juvenile xanthogranuloma of the oral mucosa. Oral Surg Oral Med Oral Pathol. 1981;52(5):513–23.

    Article  CAS  Google Scholar 

  25. Patel AV, Meechan JG, Soames JV. Juvenile xanthogranuloma of the oral cavity: a case report. Int J Paediatr Dent. 1993;3(1):43–5.

    Article  CAS  Google Scholar 

  26. Sangüeza OP, Salmon JK, White CR Jr, Beckstead JH. Juvenile xanthogranuloma: a clinical, histopathologic and immunohistochemical study. J Cutan Pathol. 1995;22(4):327–35.

    Article  Google Scholar 

  27. Satow SJ, Zee S, Dawson KH, Gown AM, Oda D, Worthington P. Juvenile xanthogranuloma of the tongue. J Am Acad Dermatol. 1995;33(2 Pt 2):376–9.

    Article  CAS  Google Scholar 

  28. Shapiro NL, Malis DJ, Charon CC, Billman GF, Kearns DB. Giant juvenile xanthogranuloma of the tongue. Am J Otolaryngol. 1999;20(4):241–4.

    Article  CAS  Google Scholar 

  29. Tanyeri H, Weisenberg E, Friedman M. Juvenile xanthogranuloma of the tongue. Otolaryngol Head Neck Surg. 2000;123(5):641–2.

    Article  CAS  Google Scholar 

  30. Villa A, Mariani U, Villa F. Lingual juvenile xanthogranuloma in a woman: a case report. J Med Case Rep. 2011;5:30.

    Article  Google Scholar 

  31. Baik FM, Andeen NK, Schmechel SC, Futran ND. A large juvenile xanthogranuloma within the tongue. Otolaryngol Head Neck Surg. 2014;150(2):332–3.

    Article  Google Scholar 

  32. Kwan CY, Min LL, Chung LC, Hang YY. Intraoral juvenile xanthogranuloma. A case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endodontol. 1996;81(4):450–3.

    Article  CAS  Google Scholar 

  33. Tagawa T, Inui M, Murata M. Palatal juvenile xanthogranuloma. A case report. Int J Oral Maxillofac Surg. 1996;25(6):453–4.

    Article  CAS  Google Scholar 

  34. Shimoyama T, Horie N, Ide F. Juvenile xanthogranuloma of the lip: case report and literature review. J Oral Maxillofac Surg. 2000;58(6):677–9.

    Article  CAS  Google Scholar 

  35. Kawashiri S, Kumagai S, Nakagawa K, Yamamoto E, Imai K. Juvenile xanthogranuloma occurring in the oral cavity: case report and histopathological findings. J Oral Pathol Med. 1997;26(10):484–7.

    Article  CAS  Google Scholar 

  36. Collins L, Banks R, Robinson M. Juvenile xanthogranuloma: unusual intraoral finding. Br J Oral Maxillofac Surg. 2015;53(1):86–8.

    Article  CAS  Google Scholar 

  37. Dissanayaka WL, Jayasooriya PR, Wickramasuriya G, Dias DK, Tilakaratne WM. Oral juvenile xanthogranuloma: report of two cases and literature review. Oral Surg. 2010;3:22–35.

    Google Scholar 

  38. Palacios J, Rodriguez-Peralto JL, Contreras F. Congenital oral juvenile xanthogranuloma: report of a case. J Oral Maxillofac Surg. 1987;45(8):707–9.

    Article  CAS  Google Scholar 

Download references

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Author information

Author notes

  1. Carolina Peres Mota and John Lennon Silva Cunha have contributed equally to this work.

Authors and Affiliations

  1. Department of Oral Pathology and Surgery, School of Dentistry, Universidade Federal de Minas Gerais (UFMG), Belo Horizonte, Brazil

    Carolina Peres Mota, Maria Carolina Silva Versieux Magalhães & Sílvia Ferreira de Sousa

  2. Department of Oral Diagnosis, Piracicaba Dental School, State University of Campinas (FOP-UNICAMP), Piracicaba, Brazil

    John Lennon Silva Cunha

  3. Clinic of Stomatology, School of Dentistry, State University of Rio de Janeiro (UERJ), Rio de Janeiro, Brazil

    Mônica Simões Israel & Nathália de Almeida Freire

  4. Department of Pathology, School of Medicine, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil

    Emilia Rosaria Carvalho dos Santos & Nathalie Henriques Silva Canedo

  5. Department of Oral Diagnosis and Pathology, School of Dentistry, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil

    Michelle Agostini, Aline Corrêa Abrahão, Bruno Augusto Benevenuto de Andrade & Mário José Romañach

Authors
  1. Carolina Peres Mota
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. John Lennon Silva Cunha
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Maria Carolina Silva Versieux Magalhães
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Mônica Simões Israel
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Nathália de Almeida Freire
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Emilia Rosaria Carvalho dos Santos
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Nathalie Henriques Silva Canedo
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Michelle Agostini
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Aline Corrêa Abrahão
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Bruno Augusto Benevenuto de Andrade
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Mário José Romañach
    View author publications

    You can also search for this author in PubMed Google Scholar

  12. Sílvia Ferreira de Sousa
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Sílvia Ferreira de Sousa.

Ethics declarations

Conflict of interest

No conflicts of interest were declared concerning the publication of this article.

Ethical Approval

This study was approved by the local research ethics committee (CAAE 44358821.4.0000.5149) and carried out following the Helsinki Declaration for study involving human subjects.

Informed Consent

The patients provided an informed consent declaration to permit the use of images and medical information and the manuscript is in accordance with the Institutional Ethics committee.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Mota, C.P., Silva Cunha, J.L., Magalhães, M.C.S.V. et al. Oral Juvenile Xanthogranuloma: A Clinicopathological, Immunohistochemical and BRAF V600E Study of Five New Cases, with Literature Review. Head and Neck Pathol 16, 407–415 (2022). https://doi.org/10.1007/s12105-021-01373-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12105-021-01373-x

Keywords

Search

Navigation