Angiomatoid Fibrous Histiocytoma (AFH) of the Right Arm: An Exceptional Case with Pulmonary Metastasis and Confirmatory EWSR1::CREB1 Translocation

Abstract

Angiomatoid fibrous histiocytoma (AFH) is a rare neoplasm described for the first time by Enzinger in 1979, and classified by World Health Organization 2020 as intermediate malignant potential neoplasm. It mostly occurs in the subcutis and is characterized by varying proportions of epithelioid, ovoid and spindle cells in a nodular and syncytial growth pattern, with some hemorrhagic pseudovascular spaces. In this paper, we report the clinical case of a 62-year-old man who presented with AFH on the right arm, and relapsed three years after first surgical excision. After a further three years, the patient presented with an intramuscular localization of AFH, and 12 months after this, a pulmonary metastasis of AFH was diagnosed. Given the rarity of the spreading of AFH, we performed Fluorescence In Situ Hybridization (FISH) and we detected EWSR1::CREB1 gene fusion.

Pulmonary Metastasising Aneurysmal Fibrous Histiocytoma: A Case Report, Literature Review and Proposal of Standardised Diagnostic Criteria

“…However, it differs from the diagnosis of an angiomatoid fibrous histiocytoma in that LAMTOR1-PRKCD gene fusion is not considered pathognomonic for an aneurysmal fibrous histiocytoma the way EWSR1-CREB1 gene fusion is considered pathognomonic for an angiomatoid fibrous histiocytoma. Jedrych et al relate this to the comparatively fewer reported metastasising aneurysmal fibrous histiocytomas and propose the further examination of gene fusion in such cases [ 7 , 15 , 16 , 18 , 20 , 21 , 23 ].…”

“…The most common symptom of an aggressive aneurysmal fibrous histiocytoma is an abrupt increase in the tumour size of the initial lesion. Haemorrhage and an ulcerated cutaneous layer were infrequently reported [ 4 , 6 , 7 , 8 , 13 , 15 , 19 , 20 , 23 , 29 ]. However, as of yet, there has not been a comprehensive review attempting to provide standardised diagnostic clinical markers.…”

“…Due to its rarity, an accurate differential diagnosis requires a comprehensive evaluation involving histopathological and immunohistochemical examinations. Additionally, although the common variant of the banal fibrous histiocytoma is non-invasive and considered benign, the aneurysmal fibrous histiocytoma shows signs of aggressive locoregional growth as well as distant metastasis in exceptionally rare cases [ 2 , 6 , 7 , 8 ]. Malignant fibrous histiocytomas have been documented to show a wide variety of sites of dissemination such as cardiac, vascular and cerebral metastases [ 9 , 10 , 11 ].…”

“All Popliteal cysts are not Baker’s cyst: A rare case of Angiomatoid Fibrous Histiocytoma”

“…AFH lacks a specific immunoprofile, so that immunohistochemistry is supportive rather than diagnostic. Immunohistochemistry variably demonstrates positivity for desmin, CD68 and CD99 5,7,[9][10][11][12] .Lastly, cytogenetic analysis has recently added to the diagnosis of AFH, with the EWSR1-CREB1 fusion gene present in the majority of AFH 5,[8][9][10][11][12] The prognosis of AFH is generally considered to be favorable 2,9-12 but because of its chances of local recurrence ,soft tissue sarcomas should be operated by a specialised surgeon and special consideration should be taken not to miss these tumors preoperatively . There should be wide surgical excision with clear margins.…”

Difficulties in diagnosing angiomatoid fibrous histiocytoma of the head and neck region: A case report

“…It was first described in 1979 as “angiomatoid malignant fibrous histiocytoma” and it was classified by the World Health Organization under the category of “tumors of uncertain differentiation” in 2020. AFH is a lesion that rarely metastasizes[ 2 - 4 ]. It mostly occurs on the superficial extremities of both children and young adults[ 3 , 5 - 7 ].…”