Clinical and imaging features in fibro-adipose vascular anomaly (FAVA)

Amarneh, Mohammad; Shaikh, Raja

doi:10.1007/s00247-019-04571-6

Cited by 28 publications

(32 citation statements)

References 6 publications

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“…Common symptoms include pain (100%), functional restriction (81%-100%), and swelling (36.5%) [1,2]. The most common location of the lesion is the lower extremities (94.7%) [2]. Our current study determined that the median age of PIK3CA-mutation patients was 9 years and that of PIK3CA-wt patients was 13 years.…”

Section: Discussionmentioning

confidence: 65%

“…Fibro-adipose vascular anomaly (FAVA) is a new entity of vascular anomaly [1]. FAVA is extremely rare and occurs most commonly in the muscles of the lower extremities of young patients [1,2]. Histologically, FAVA is composed of venous malformation (VM), lymphatic malformation (LM), and the presence of bro-adipose tissues with the atrophic skeletal muscle [1,3].…”

Section: Introductionmentioning

confidence: 99%

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PIK3CA Mutation Correlates With mTOR Pathway Expression But Not Clinical and Pathological Features in Fibro-Adipose Vascular Anomaly (FAVA)

Hori

Hirose

Ozeki

et al. 2021

Preprint

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BackgroundFibro-adipose vascular anomaly (FAVA) is a rare and new entity of vascular anomaly. Activating mutations in the phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) gene were identified at a frequency of 62.5% in FAVA cases. The PIK3CA mutations excessively activate mammalian target of rapamycin (mTOR) pathway, which promotes angiogenesis and lymphangiogenesis, implying that PIK3CA mutations may act as drivers of FAVAs. This study investigated the correlations between PIK3CA mutational status, clinicopathological features and immunohistochemical expression of the mTOR pathway in a series of FAVA.MethodsWe retrospectively evaluated the clinical and pathological findings of five FAVA cases. We performed next-generation sequencing (NGS) with a custom panel of genes associated with the mTOR pathway and genes responsible for other vascular anomalies, direct sequencing and immunohistochemical analysis of the mTOR pathway.ResultsTwo PIK3CA-mutation cases and three PIK3CA-wild-type (wt) cases exhibited similar typical clinical features of FAVA. Histological analysis revealed venous malformation, lymphatic malformation, nerves containing enlarged abnormal vessels and fibrofatty tissue were observed regardless of PIK3CA mutational status. In contrast to clinical and histological findings, the immunohistochemical expression of activated AKT and mTOR that are upstream of the mTOR pathway was detected in abnormal vessels of PIK3CA-mutation cases but not in those of PIK3CA-wt cases. However, activated eukaryotic translation initiation factor 4E-binding protein 1 (4EBP1) and ribosomal protein S6 kinase 1 (S6K1), both of which are downstream effectors of the mTOR pathway, were expressed in abnormal vessels of both PIK3CA-mutation and PIK3CA-wt cases. Furthermore, targeting NGS did not find any common genetic mutations involved in the mTOR pathway among PIK3CA-wt cases.ConclusionThere was no significant association between the presence of PIK3CA mutations and the clinicopathological features of FAVA, suggesting that the PIK3CA gene is not necessarily involved in the onset of FAVA. FAVAs lacking PIK3CA mutations would be caused by other gene mutations that activate 4EBP1 and S6K1.

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Section: Discussionmentioning

confidence: 65%

Section: Introductionmentioning

confidence: 99%

PIK3CA Mutation Correlates With mTOR Pathway Expression But Not Clinical and Pathological Features in Fibro-Adipose Vascular Anomaly (FAVA)

Hori

Hirose

Ozeki

et al. 2021

Preprint

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“…Clinical presentation and typical grayscale and Doppler US features may confirm the diagnosis of superficial soft-tissue hemangioma, thereby avoiding biopsies [221,[285][286][287][288][289][290]. Conversely, atypical and deep-seated hemangiomas show no specific US findings [287][288][289][290][291][292][293][294][295][296][297][298][299].…”

Section: Clinical Applicationsmentioning

confidence: 99%

The EFSUMB Guidelines and Recommendations for Musculoskeletal Ultrasound – Part II: Joint Pathologies, Pediatric Applications, and Guided Procedures

et al. 2021

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The second part of the Guidelines and Recommendations for Musculoskeletal Ultrasound (MSUS), produced under the auspices of EFSUMB, following the same methodology as for Part 1, provides information and recommendations on the use of this imaging modality for joint pathology, pediatric applications, and musculoskeletal ultrasound-guided procedures. Clinical application, practical points, limitations, and artifacts are described and discussed for every joint or procedure. The document is intended to guide clinical users in their daily practice.

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“…FAVA is a recently described, complex vascular malformation that has certain typical clinical and imaging findings. 39 Adolescent females are most often affected and present with constant pain. FAVA lesions occur within the muscle, most often of the lower limb (gastrocnemius, soleus).…”

Section: Provisionally Unclassified Vascular Anomalies: Fibroadipose Vascular Anomalymentioning

confidence: 99%

“…FAVA is a recently described, complex vascular malformation that has certain typical clinical and imaging findings. 39 …”

Section: Provisionally Unclassified Vascular Anomalies: Fibroadipose Vascular Anomalymentioning

confidence: 99%

A Step-by-step Sonographic Approach to Vascular Anomalies in the Pediatric Population: A Pictorial Essay

Mittal

Anand

gauba

et al. 2021

Indian Journal of Radiology and Imaging

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Vascular anomalies are a common cause of soft-tissue masses in children and often referred for ultrasonographic (USG) evaluation. They are broadly classified as vascular tumors (hemangiomas, hemangioendotheliomas, and angiosarcomas) or vascular malformations (venous malformations, lymphatic malformations, and arteriovenous malformations). Findings on USG and Doppler imaging can be used to categorize vascular anomalies into high- or low-flow lesions, which forms the basis for further workup, diagnosis, and management. On careful evaluation of various sonographic features, in conjunction with clinical findings, an accurate clinicoradiological diagnosis can be made in most cases. Further imaging with magnetic resonance (MR) imaging or computed tomography (CT) helps in delineation of lesion extent, whereas MR or CT angiography is useful to map the vascular supply of high-flow lesions. We have illustrated and discussed a step-by-step approach to diagnose vascular anomalies using ultrasound and Doppler imaging.

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Clinical and imaging features in fibro-adipose vascular anomaly (FAVA)

Cited by 28 publications

References 6 publications

PIK3CA Mutation Correlates With mTOR Pathway Expression But Not Clinical and Pathological Features in Fibro-Adipose Vascular Anomaly (FAVA)

PIK3CA Mutation Correlates With mTOR Pathway Expression But Not Clinical and Pathological Features in Fibro-Adipose Vascular Anomaly (FAVA)

The EFSUMB Guidelines and Recommendations for Musculoskeletal Ultrasound – Part II: Joint Pathologies, Pediatric Applications, and Guided Procedures

A Step-by-step Sonographic Approach to Vascular Anomalies in the Pediatric Population: A Pictorial Essay

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