Angiosarcoma arising from congenital primary lymphedema

Janssens, P.; Dekeuleneer, Valérie; Damme, An Van; Brouillard, Pascal; Revençu, Nicole; Clapuyt, Philippe; Ferreira, Ingrid; Ballieux, Fanny; Vikkula, Miikka; Baeck, Marie; Boon, Laurence M.

doi:10.1111/pde.13664

Cited by 7 publications

(2 citation statements)

References 11 publications

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“…This has also been confirmed in other studies. 6 No patient had angiosarcoma in our cohort, which has been described in 5 young girls, and 19 adults overall in congenital primary lymphedema 42 ; angiosarcoma remains an unusual but aggressive complication affecting adults with secondary lymphedema. 43 Functional impairment and pain in pediatric lymphedema have been underestimated.…”

Section: Discussionmentioning

confidence: 69%

Pediatric Lymphedema: Study of 180 Patients Referred to a Tertiary Lymphedema Clinic

et al. 2022

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Background Lymphedema is due to dysfunction of the lymphatic system. It can be primary or secondary. Pediatric lymphedema is more often primary and is a chronic disease with a heavy burden on quality of life. Methods Medical records of patients under 18 years of age referred between 1996 and 2021 to the specialized lymphedema clinic at the Sainte-Justine University Hospital Center were reviewed. Demographic data, sex, age at presentation, location of the lymphedema, clinical features, genetic testing, symptoms, complications, investigations, and treatment were collected. Results Of 180 referred patients, lymphedema was confirmed in 151, and 137 were primary lymphedema. Median age of apparition of primary lymphedema was 7.00 years and was significantly lower in boys than in girls. Primary congenital lymphedema was more frequent in boys (51.0%, 27.3% in girls, P = .007), and onset of primary lymphedema during adolescence was more frequent in girls (53.4%, 25.0% in boys, P = .001). Lower limbs were the most impacted (88.3%). Sixty patients had genetic testing, and 38 (63.3%) of them were discovered to have a pertinent genetic mutation. The most common mutated gene was the FLT4 gene (in 9 patients). Seven patients (5.1%) had associated extensive/central lymphatic malformation and 24 (17.6%) had a polymalformative syndrome/syndromic lymphedema. Conclusions Pediatric lymphedema is more frequent in girls, usually involves lower limb, and is most often sporadic, but often associated with a genetic mutation, and genetic testing should be performed.

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Section: Discussionmentioning

confidence: 69%

Pediatric Lymphedema: Study of 180 Patients Referred to a Tertiary Lymphedema Clinic

et al. 2022

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“…This lymphoma was noneEpstein-Barr virus-related (Hammer et al, 2018). Another girl aged 4 years with an unusual primary upper extremity lymphedema with severe pleural effusion developed a lymphangiosarcoma 3 months after the initiation of rapamycin (Janssens et al, 2018). In all these cases, a causal relationship with rapamycin treatment could not be established.…”

Section: Slow-flow Malformationsmentioning

confidence: 96%

Theranostic Advances in Vascular Malformations

Dekeuleneer

Seront

Damme

et al. 2020

Journal of Investigative Dermatology

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Vascular malformations are subdivided into capillary, lymphatic, venous, arteriovenous, and mixed malformations, according to the type of affected vessels. Until a few years ago, treatment options were limited to sclerotherapy and/or surgery. Since, it has been demonstrated that the majority of vascular malformations are caused by inherited or somatic mutations in various genes. These mutations lead to hyperactivity of two major signaling pathways: the RAS/ mitogen-activated protein kinase and the phosphatidylinositol 3-kinase/protein kinase B/mammalian target of rapamycin pathways. These discoveries paved the way for the development and testing of targeted molecular inhibitors as therapies for vascular anomalies via repurposing of anticancer drugs.

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