Angiomatoid fibrous histiocytoma of the pulmonary artery: a multidisciplinary discussion

Abstract

A thoracic location of AFH has not been reported until very recently, and shares a differential diagnosis with diverse neoplasms, including spindle cell carcinoma and low-grade sarcoma. We describe the first reported case of thoracic AFH arising in a large vessel, and highlight distinctive histological and molecular features.

Intraluminal EWSR1–CREB1 gene rearranged, low‐grade myxoid sarcoma of the pulmonary artery resembling extraskeletal myxoid chondrosarcoma (EMC)

“…Low‐grade malignant tumours are less common in these locations and there are few data on their genetic background. In fact, there is only one report of a purely intraluminal primary tumour of a pulmonary artery in a 76‐year‐old woman, showing microscopic features of AFH and carrying EWSR1–ATF1 gene fusion . In the current study, we report on a purely myxoid, low‐grade tumour with EWSR1–CREB1 fusion, confined to the lumen of the pulmonary artery in a 21‐year‐old woman.…”

“…Clinical data suggest that all three categories of the EWRS1–CREB family gene fusion‐carrying tumour types (pure AFH, pure myxoid and hybrid AFH‐myxoid variants) show low‐grade malignant potential. Of the two pulmonary artery tumours with EWSR1–CREB family gene fusions, both were pure forms: an EWSR1–ATF1 AFH described by Ghinga and an exclusively myxoid tumour with EWSR1–CREB1 fusion from the current study. During the 38 months of follow‐up, there has been no evidence of local recurrences or metastases in our patient, while follow‐up data are not provided for the patient with the previously described AFH.…”

“…Molecular characterisation in these reports is lacking. There is only one report on an intraluminal tumour of pulmonary artery morphologically corresponding to AFH, which was found to contain an EWSR1–ATF1 gene fusion . In the current report, we describe a well‐characterised, low‐grade myxoid, exclusively intraluminal tumour of the pulmonary artery with an EWSR1–CREB1 gene fusion and a long follow‐up.…”

“…In fact, there is only one report of a purely intraluminal primary tumour of a pulmonary artery in a 76-year-old woman, showing microscopic features of AFH and carrying EWSR1-ATF1 gene fusion. 14 In the current study, we report on a purely myxoid, low-grade tumour with EWSR1-CREB1 fusion, confined to the lumen of the pulmonary artery in a 21-year-old woman. Both ATF1 and CREB1 genes belong to the CREB family of transcription factors.…”

Precision medicine and personalising therapy in pulmonary hypertension: seeing the light from the dawn of a new era

“…Because there is evidence that BMPR2 mutation carriers have a worse prognosis [38], are less likely to respond acutely to vasodilators and have a relatively preserved diffusing capacity of the lung for carbon monoxide compared to non-carriers [76,77], a systematic screening for the presence of this predisposing mutation is recommended. Evidence suggests that the degree of vascular remodelling is greater in lungs of patients with BMPR2 mutations compared with lungs of non-BMPR2 related disease at the time of transplantation [78,79]. Interestingly, for an unknown reason, BMPR-II or its downstream signalling pathways are reduced to a similar extent in explanted lungs of non-carriers, highlighting the need of further studies to identify the underlying mechanisms [80].…”