A rare case report of Langerhans cell histiocytosis exclusive to the colon in adults

Authors

  • Daniela Martins Department of General Surgery, Unidade Local de Saúde de Trás-Os-Montes e Alto Douro-Vila Real, Portugal
  • Nádia Tenreiro Department of General Surgery, Unidade Local de Saúde de Trás-Os-Montes e Alto Douro-Vila Real, Portugal
  • Francisco Cubal Department of Hematology, Unidade Local de Saúde de Trás-Os-Montes e Alto Douro-Vila Real, Portugal
  • Margarida Dupont Department of General Surgery, Unidade Local de Saúde de Trás-Os-Montes e Alto Douro-Vila Real, Portugal
  • Pedro Costa Department of General Surgery, Unidade Local de Saúde de Trás-Os-Montes e Alto Douro-Vila Real, Portugal
  • João Pinto-de-Sousa Department of General Surgery, Unidade Local de Saúde de Trás-Os-Montes e Alto Douro-Vila Real, Portugal

DOI:

https://doi.org/10.18203/2349-2902.isj20241745

Keywords:

LCH, Colonic presentation, Case report

Abstract

Langerhans cell histiocytosis (LCH) is a rare disease characterized by abnormal proliferation of atypical Langerhans cells, predominantly affecting children. Adult-onset LCH is even rarer and typically involves the lungs, bones, and skin. There is a shortage of knowledge regarding various aspects related to its origin, evolution, and treatment. We present a case of a 63-year-old female with an exceptional manifestation of single-organ LCH in the colon, discovered incidentally during routine colorectal cancer screening. The patient's past medical history included a right colectomy for an ileal neuroendocrine tumor with hepatic metastasis. A comprehensive diagnostic workup revealed a BRAF V600E mutation in LCH tumor cells. The patient did not receive any systemic therapy and remains asymptomatic at the 9-month mark post-diagnosis. This case underscores the complexity of LCH diagnosis and the need for multidisciplinary management.

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Published

2024-06-27

Issue

Section

Case Reports