Rectal Neuroendocrine Tumor with Concomitant Erdheim-Chester Disease: A Rare Case Report


Introduction: Rectal neuroendocrine tumor (NET), a type of rare tumor, is rather rarer when accompanied by non-Langerhans cells histiocytosis named Erdheim-Chester disease (ECD).

Aim(s): To report a patient suffered from rectal NET and ECD simultaneously.

Materials and methods: A 44-year-old man, with a 7 years history of rectal NET, complaining that he has had a backache as well as vision and hearing impairment for 2 years. Craniocerebral MRI revealed thickened bilateral choroid plexus and endocranium with multiple nodules. Pelvic MRI identified abnormal signals of lumbar, bilateral pelvis and proximal femurs. Both 18F-FDG-PET/CT and 68Ga-DOTANOC-PET/CT demonstrated high uptake of radiotracers in the region of perirectal lymph nodes while no uptake in the lesions of bones and brain. After multidisciplinary discussion, pelvic bones biopsy was performed to identify the property of lesions. Notably, histology reveled infiltration of abundant foamy histiocytes. Immunohistochemistry confirmed CD68(+), CD163(+), Factor XIII a (+), S-100(-), CD1a (-), Langerin (-). And there was no mutation of BRAF V600E. So, the final diagnosis was ECD. For treatment of ECD, interferon alfa (180µg/week) was applied to the patient. To remove lymph node metastasis of rectal NET, a total mesorectal excision surgery was performed.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author:

Authors: Zhang Y, Liu M, Chen L, Guo Y, Chen M,

Keywords: rectal neuroendocrine tumor, Erdheim-Chester disease.,

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