Myofibroma are benign soft-tissue tumours mostly found in young children. These neoplasms belong to the pericytic/perivascular tumour family in the WHO classification, based on shared histologic characteristics. 1 The clinical presentation features solitary or multiple tumours involving the skin, muscles, bones and internal organs.The multicentric form of the disease, referred to as infantile myofibromatosis (IMF), can be a life-threatening condition when visceral nodules are present. 2 Unlike children, adult patients develop only solitary myofibroma. 3 The diagnosis of myofibroma, based on pathological examination, can be challenging. Recently, we and others discovered oncogenic mutations in PDGFRB, encoding platelet-derived growth factor receptor beta, a receptor tyrosine kinase which is essential for pericyte development. 3,4 In a 69-case series, we showed that oncogenic variants of PDGFRB were present in 68% of IMF and 24% of isolated myofibromas. PDGFRB mutations have also been found in myopericytoma, a closely related entity, but not in other soft-tissue tumours. 5 These findings opened the possibility of treating severe myofibromatosis with tyrosine kinase inhibitors that target PDGFRB. Two such drugs, imatinib and sunitinib,
Both patients attended our department monthly for checkups. Patient 1 is currently on her 16th month of risankizumab therapy. Except for one episode of tonsillitis, she developed no adverse events (AEs). Patient 2 is now on her 14th month of risankizumab monotherapy. We have so far observed no AEs. HiSCR was achieved by both patients 3 months after therapy start. A significant improvement in their clinical picture, laboratory parameters and patient-reported outcome was observed at their 4th month of therapy (Table 1).Their clinical picture has remained stable since then, and no severe flare-ups have been noticed. They also reported that they were able to resume their sexual activity. In addition, patient 1 revealed a symptomatic improvement of her MS; this was supported by a stabilization of her MS lesions evidenced by means of magnetic resonance imaging.We report no serious AEs while being in treatment on risankizumab. Changes of patients' risk factors (smoking, wearing tight clothing, etc.) were not observed. Both patients' weight has deviated only 1 kg since the beginning of therapy. Risankizumab did not exacerbate patients' comorbidities. A drug similar to anti-IL-23 inhibitors, ustekinumab (anti-IL-12/23), did not exacerbate MS in psoriasis. 7 Systemic corticosteroids have been used as adjunct therapies for HS with some success. 8 Although patient 1 concomitantly uses very low doses of methylprednisone, her HS did not improve with higher corticosteroid doses given before starting risankizumab. Thus, we consider it unlikely that such low doses have caused a significant impact on her HS.With the occurrence of only one mild AE in 16 months of therapy, risankizumab demonstrates an outstanding safety profile. It seems that risankizumab could provide an effective and safe therapeutic alternative for patients with severe HS with MS.
Introduction:The ETV6::NTRK3 fusion is the most common gene alteration in infantile fibrosarcoma, a soft tissue tumor affecting patients under two years of age.Less frequently, these tumors harbor fusions of genes encoding other kinases, such as BRAF, which activates MEK in the mitogen-activated protein kinase pathway.The identification and characterization of these oncogenes are crucial to facilitate diagnosis, validate new treatments, and better understand the pathophysiology of these neoplasms.Methods: Herein, we analyzed an ETV6::NTRK3-negative infantile fibrosarcoma from a 5-day-old patient by RNA-sequencing to identify new fusion transcripts. Functional exploration of the fusion of interest was performed by in vitro assays to study its activity, oncogenicity, and sensitivity to the MEK inhibitor trametinib.Results: We identified a novel fusion involving the PHIP and BRAF genes. The corresponding fusion protein constitutively activated the mitogen-activated protein kinase pathway, resulting in fibroblast transformation. Treatment of transfected cells with trametinib effectively inhibited signaling by PHIP::BRAF.
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