Fibroadipose vascular anomaly treated with sirolimus: Successful outcome in two patients

Erickson, Jonathan; McAuliffe, William; Blennerhassett, Lewis; Halbert, Anne

doi:10.1111/pde.13260

Cited by 31 publications

(26 citation statements)

References 10 publications

(20 reference statements)

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“…Jonathan E et al (2017) presented two cases of FAVA with mTOR inhibitor sirolimus treatment [ 3 ]. Before that, there were no specific treatment for FAVA because of the overall low incidence.…”

Section: Discussionmentioning

confidence: 99%

“…The common presenting symptoms are pain (100%), functional restriction (81%) and swelling (62%) [ 2 ]. FAVA affects females more frequently than males in a ratio of 3:1 [ 3 , 4 ]. Histologically, FAVA is a complex mesenchymal malformation characterized by venous malformation (VM) surrounded by focal or diffuse fibro-adipose tissue within the skeletal muscle [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

“…In vitro study demonstrated that PIK3CA mutation excessively promoted activation of mTOR pathway [ 7 , 13 ]. Moreover, sirolimus known as a mTOR inhibitor has an antiproliferative effect on various vascular anomalies including FAVA [ 3 , 14 , 15 ]. Considering these findings, activated PI3K/AKT/mTOR signaling pathway plays a key role in pathogenesis of vascular anomaly in FAVA.…”

Section: Introductionmentioning

confidence: 99%

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Fibro-adipose vascular anomaly (FAVA): three case reports with an emphasis on the mammalian target of rapamycin (mTOR) pathway

et al. 2020

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Background Fibro-adipose vascular anomaly (FAVA) is a new entity of vascular anomalies with somatic and mosaic gain-of-function mutations of the phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha ( PIK3CA ). PIK3CA mutation excessively activates mammalian target of rapamycin (mTOR) pathway, which promotes angiogenesis and lymphangiogenesis. Histologically, FAVA is composed of intramuscular fibrous and adipose tissues with venous malformation (VM). Although sirolimus known as a mTOR inhibitor has good response to FAVA, expression pattern of the mTOR pathway was still unclear. Herein, we immunohistochemically investigated three novel FAVA patients with an emphasis on the mTOR pathway (p-S6K1, p-4EBP1 and p-AKT). Case presentation Case 1: A 10-year-old female had complained of pain in the left thigh since she was 6-year-old. Under the clinical diagnosis of VM, she underwent surgical resection for the lesion. Case 2: A 29-year-old female patient had complained of discomfort and mild pain in the left shoulder since she was 18-year-old. After childbirth, she had severe ongoing pain and contracture of the shoulder. Under clinical diagnosis of VM, surgical resection was performed. Case 3: A 53-year-old female had complained of pain and knee restriction after surgical treatment of a knee tumor at the age of 31. Under the clinical diagnosis of atypical lipomatous tumor or high grade liposarcoma, surgical resection was performed. Histologically, all three patients presented with characteristic features of fibrous and adipose tissues with abnormal vessels within the skeletal muscle, leading to diagnosis of FAVA. Although VM has been reported as an important finding in FAVA, immunohistological findings demonstrated that abnormal vessels comprised complex of VM and lymphatic malformation (LM) in all cases. Furthermore, besides vascular malformation, abnormal fibrous and adipose tissues of FAVA expressed mTOR pathway components. Conclusions We presented three new cases of FAVA. Histological and immunohistochemical analyses revealed that VM and LM complex was an important finding in FAVA, and that the mTOR pathway components were expressed in abnormal fibrous tissue, adipose tissue and vascular malformation. These findings suggested that FAVA might be a mesenchymal malformation caused by PI3K/AKT/mTOR pathway.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Fibro-adipose vascular anomaly (FAVA): three case reports with an emphasis on the mammalian target of rapamycin (mTOR) pathway

et al. 2020

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“…The intramuscular nature of the lesion conforms the mass to a longitudinal orientation that runs in the direction of the muscle and neuronal fascicles. Characterized by a solid fibrofatty intramuscular lesion with low-flow vascular malformation, and normal overlying skin Sporadic somatic mutation in PIK3CA with variable time of manifestation, which is often during adolescence; females more commonly affected than males Pain is the most common finding at presentation and is disproportionally severe compared with the other clinical findings in the patient Calf contractures and limited ankle dorsiflexion are common Venous thromboembolism, with ectatic veins, is likely Differs from other PROS disorders in that no skin findings are present The calf (gastrocnemius) muscle is most commonly affected agent, with rapid resolution of the lesion (66). Alcohol embolization is a viable first-line option for the control of FAVA lesions; however, recurrence of these lesions is common (Fig 6l, 6m).…”

Section: Fibroadipose Vascular Anomalymentioning

confidence: 99%

Congenital Limb Overgrowth Syndromes Associated with Vascular Anomalies

et al. 2019

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Congenital limb length discrepancy disorders are frequently associated with a variety of vascular anomalies and have unique genetic and phenotypic features. Many of these syndromes have been linked to sporadic somatic mosaicism involving mutations of the phosphoinositide 3-kinase (PI3K)/protein kinase B (AKT)/ mammalian target of rapamycin (mTOR) pathway, which has an important role in tissue growth and angiogenesis. Radiologists who are aware of congenital limb length discrepancies can make specific diagnoses based on imaging findings. Although genetic confirmation is necessary for a definitive diagnosis, the radiologist serves as a central figure in the identification and treatment of these disorders. The clinical presentations, diagnostic and imaging workups, and treatment options available for patients with Klippel-Trenaunay syndrome, CLOVES (congenital lipomatous overgrowth, vascular anomalies, epidermal nevi, and scoliosis/spinal deformities) syndrome, fibroadipose vascular anomaly, phosphatase and tensin homolog mutation spectrum, Parkes-Weber syndrome, and Proteus syndrome are reviewed. ©

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“…Medical management of FAVA is in its infancy. Because the effects of PIK3CA mutations are at least partly mediated by mTOR, sirolimus therapy has been tried with some success (Erickson et al 2017). It is generally agreed that sclerotherapy is ineffective in managing the pain associated with FAVA; closure of the dysplastic veins does little to alleviate the pain, swelling or contractures.…”

Section: Fibroadipose Vascular Anomaly Favamentioning

confidence: 99%

Vascular anomalies: special considerations in children

Gibson

Barnacle

2020

CVIR Endovasc

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The diagnosis and treatment of vascular anomalies are a large part of the caseload for paediatric interventional radiologists. Although many of the principles of sclerotherapy and embolisation are the same in adult and paediatric practice, there are some key differences in the approach for children, including some longer term thinking about managing these chronic diseases and their impact on a growing child. Vascular tumours are not often seen in adult IR practice and the rarest can be life threatening; knowledge of the commonest types and the role IR can play in their management can be instrumental in ensuring that children get appropriate treatment in a timely manner. Vascular anomalies also encompass some conditions associated with complex overgrowth, a subject that often causes confusion and uncertainty for interventional radiologists. This paper presents a simplified and practical approach to this spectrum of disease.

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Fibroadipose vascular anomaly treated with sirolimus: Successful outcome in two patients

Cited by 31 publications

References 10 publications

Fibro-adipose vascular anomaly (FAVA): three case reports with an emphasis on the mammalian target of rapamycin (mTOR) pathway

Fibro-adipose vascular anomaly (FAVA): three case reports with an emphasis on the mammalian target of rapamycin (mTOR) pathway

Congenital Limb Overgrowth Syndromes Associated with Vascular Anomalies

Vascular anomalies: special considerations in children

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