Adult Langerhans cell histiocytosis presenting with multisystem involvement and sarcomatoid features: a case report

• Main Authors: Luis E. Aguirre, Ingrid Schwartz, Jennifer Chapman, Marcelo F. Larsen, Alvaro Alencar
• Format: Article
• Language: English
• Published: BMC 2020-09-01
• Series: Journal of Medical Case Reports
• Subjects: Langerhans cell histiocytosis; Langerhans cell sarcoma; Cytogenetics; Acute myeloid leukemia; Colony-stimulating factor; Leukemic transformation
• Online Access: http://link.springer.com/article/10.1186/s13256-020-02460-3

Abstract Background Langerhans cell tumors are rare clonal disorders characterized by neoplastic proliferation of dendritic cells that can be further classified into the subtypes Langerhans cell histiocytosis and Langerhans cell sarcoma, which are rare neoplasms exhibiting aggressive features and a poor prognosis. In addition to illustrating the refractoriness and poor outcomes of multisystem Langerhans cell histiocytosis in adults, specific events in this case highlight important characteristics of disease biology that warrant detailed discussion and exposition to a wider audience. Case presentation We describe the case of a 42-year-old Caucasian man with Langerhans cell histiocytosis diagnosed from a lesion on the left arm that presented with constitutional symptoms, early satiety, and weight loss. Esophagogastroduodenoscopy showed extensive esophageal and duodenal involvement by Langerhans cell histiocytosis with features of Langerhans cell sarcoma. He was initially treated for Langerhans cell histiocytosis with low doses of cytarabine until he eventually presented clear transformation to acute monoblastic leukemia with complex karyotype that could not be properly controlled, leading eventually to death. Conclusions Langerhans cell histiocytosis remains an exceedingly rare entity in adults, frequently presenting as multisystem disease with risk organ involvement. Langerhans cell sarcoma represents an aggressive subtype with extremely poor prognosis for which intensive acute myeloid leukemia induction should be strongly considered.