Clonally Related Chronic Myelomonocytic Leukemia and Erdheim-Chester Disease with KRAS Mutation: A Rare and Challenging Case

Tiago Monteiro-Brás; Inês Araújo; Maria Luís Amorim; Alexandra Azevedo; Luísa Regadas; Raquel Faria; Rita Coutinho

doi:10.20344/amp.24231

Clonally Related Chronic Myelomonocytic Leukemia and Erdheim-Chester Disease with KRAS Mutation: A Rare and Challenging Case

Authors

Tiago Monteiro-Brás Department of Hematology. Centro Hospitalar Universitário de Santo António. Unidade Local de Saúde de Santo António. Porto. https://orcid.org/0000-0001-6289-3519
Inês Araújo Anatomic Pathology Service. Centro Hospitalar Universitário de Santo António. Unidade Local de Saúde de Santo António. Porto.
Maria Luís Amorim Department of Hematology. Centro Hospitalar Universitário de São João. Unidade Local de Saúde de São João. Porto. https://orcid.org/0000-0002-3163-7624
Alexandra Azevedo Department of Dermatology. Hospital Militar das Forças Armadas (Pólo do Porto). Porto.
Luísa Regadas Department of Hematology. Centro Hospitalar Universitário de Santo António. Unidade Local de Saúde de Santo António. Porto.
Raquel Faria Clinical Immunology Unit. Centro Hospitalar Universitário de Santo António. Unidade Local de Saúde de Santo António. Porto. https://orcid.org/0000-0002-2956-1966
Rita Coutinho Department of Hematology and Bone Marrow Transplantation. Instituto Português de Oncologia do Porto Francisco Gentil. Porto. & Instituto de Investigação e Inovação em Saúde (i3S). Universidade do Porto. Porto. https://orcid.org/0000-0002-3028-6594

DOI:

https://doi.org/10.20344/amp.24231

Keywords:

Erdheim-Chester Disease, Leukemia, Myelomonocytic, Chronic, Mutation/genetics, Proto-Oncogene Proteins p21(ras)/genetics

Abstract

n/a.

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References

Patnaik MM, Tefferi A. Chronic myelomonocytic leukemia: 2022 update on diagnosis, risk stratification, and management. Am J Hematol. 2022;97:352-72. DOI: https://doi.org/10.1002/ajh.26455

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;120:2700-3. DOI: https://doi.org/10.1182/blood-2012-05-430140

Papo M, Diamond EL, Cohen-Aubart F, Emile J-F, Roos-Weil D, Gupta N, et al. High prevalence of myeloid neoplasms in adults with non–Langerhans cell histiocytosis. Blood. 2017;130:1007-13. DOI: https://doi.org/10.1182/blood-2017-01-761718

Bonnet P, Chasset F, Moguelet P, Abisror N, Itzykson R, Bouaziz J-D, et al. Erdheim-Chester disease associated with chronic myelomonocytic leukemia harboring the same clonal mutation. Haematologica. 2019;104:e530-3. DOI: https://doi.org/10.3324/haematol.2019.223552

Goyal G, Liu Y, Ravindran A, Al-Kali A, Go RS, Patnaik MM, et al. Concomitant Erdheim-Chester disease and chronic myelomonocytic leukaemia: genomic insights into a common clonal origin. Br J Haematol. 2019;187:e51-4. DOI: https://doi.org/10.1111/bjh.16177

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Published

2026-03-02

How to Cite

Monteiro-Brás T, Araújo I, Amorim ML, Azevedo A, Regadas L, Faria R, Coutinho R. Clonally Related Chronic Myelomonocytic Leukemia and Erdheim-Chester Disease with KRAS Mutation: A Rare and Challenging Case. Acta Med Port [Internet]. 2026 Mar. 2 [cited 2026 Mar. 16];39(3):241-2. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/24231

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Issue

Vol. 39 No. 3 (2026): March

Section

Letters to the Editor

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