Why the study?
Aneurysmal fibrous histiocytoma is a rare tumour with exceedingly uncommon metastasis, presenting diagnostic challenges.
This case report highlights a rare instance of pulmonary metastasis from an aneurysmal fibrous histiocytoma, identifying a LAMTOR1-PRKCD fusion and proposing standardized diagnostic criteria.
Raises awareness of rare pulmonary metastases in aneurysmal fibrous histiocytoma; leaves open the role of LAMTOR1-PRKCD fusion.
An aneurysmal fibrous histiocytoma is a rare cutaneous soft-tissue tumour which accounts for approximately 0.06% of all dermatopathologies. Metastasis is exceedingly uncommon, to the point that there have only been eight reported cases in the scientific literature. We present the case of a 25-year-old male with a primary aneurysmal fibrous histiocytoma located in the nuchal region which exhibited rapid growth and abrupt ulceration over a short time span and showed signs of locoregional aggressive infiltration. A subsequent histopathological analysis confirmed the presence of diffuse solid and cystic pulmonary metastases. Further genetic sequencing verified LAMTOR1-PRKCD fusion. This case report seeks to review the existing literature on aneurysmal fibrous histiocytoma, discuss the challenges of differential diagnosis and propose standardised diagnostic criteria.
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Mankertz et al. (2023) studied this question.
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