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Case Reports
. 2025 Apr 11:16:1494783.
doi: 10.3389/fendo.2025.1494783. eCollection 2025.

Metastatic pheochromocytoma complicated with Langerhans cell histiocytosis: a case report

Dandan Dai #  1 , Jing Xie  1
Affiliations
Case Reports

Metastatic pheochromocytoma complicated with Langerhans cell histiocytosis: a case report

Dandan Dai et al. Front Endocrinol (Lausanne). .

Abstract

Pheochromocytoma is a neuroendocrine neoplasm that originates from chromaffin cells of the adrenal medulla. Langerhans cell histiocytosis (LCH) is a proliferative disease of histiocyte-like cells, often associated with activating mutations of the mitogen-activated protein kinase (MAPK) pathway. We present a case of a 49-year-old male with a history of pheochromocytoma, which metastasized to the inferior vena cava eight years after left adrenalectomy. At the same time, it was found that the pheochromocytoma in the metastasis was complicated with LCH, a combination that has not been previously reported. Genetic analysis was carried out by next-generation sequencing (NGS) technology. Somatic mutations of BRAF and RAD54B were detected in Langerhans cells and EPAS1 in pheochromocytoma.

Keywords: EPAS1 gene; Langerhans cell histiocytosis; case report; metastasis; pheochromocytoma.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Pheochromocytoma (A) Pheochromocytoma with vascular invasion (x5 HE). (B) Intravascular tumor embolus (x100 HE). (C) Classic histoarchitecture with uniform cell nests(Zallballen)(x200 HE). (D-F) Syn, CgA and SDHB expression is positive, supporting the diagnosis of pheochromocytoma(x200). (G) Immunohistochemical stain for S100 showing classic distribution of sustentacular cells, mostly at the periphery of cell nests(x200).
Figure 2
Figure 2
Computed tomographic angiography and pathological images. (A-C) The lumen of the left renal vein showed a soft tissue mass extending from its junction with the inferior vena cava, along the course of the inferior vena cava. The enhanced scan exhibited significant enhancement. Pheochromocytoma in metastasis. (D) The mononuclear cell area on the left side exhibits a significant presence of numerous eosinophils(x100 HE). (E, F) Pheochromocytoma expressing CgA and syn (x200). (G) The monocytic cells have reniform-to-oval nuclei and a central horizontal groove(x400 HE). (H, I) The mononuclear cells are positive for CD1a and Langerin (x200).
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