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. 2022 Jul;100(7):1087-1090.
doi: 10.1007/s00109-022-02214-2. Epub 2022 Jun 3.

Somatic non-cancerous overgrowth syndrome of obscure molecular etiology: what are the causes and options?

Alexandre P Garneau  1   2 , Ludwig Haydock  1 , Laurence E Tremblay  1 , Pierre-Luc Harvey-Michaud  1 , Yun-Hua Esther Hsiao  3 , Samuel P Strom  3 , Guillaume Canaud  2 , Paul Isenring  4
Affiliations

Somatic non-cancerous overgrowth syndrome of obscure molecular etiology: what are the causes and options?

Alexandre P Garneau et al. J Mol Med (Berl). 2022 Jul.
No abstract available

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Clinical manifestations at baseline (A to F and G to J in red) and after 2 months on alpelisib (A to F and J in blue). A–F in red, external appearance before treatment. Right distal arm is seen to be severely enlarged (panels A to D) with an epidermal nevus near the elbow (red arrows in panels D), right distal leg to be moderately enlarged (panel E) with a large venous ectasia (blue arrows in the same panels), and upper outer lip of vagina to harbor a large venous mass (panels F). Mild hypertrichosis was also present in the distal hypertrophied extremities (barely visible on the pictures shown). A–F in blue, external appearance during treatment. Areas of overgrowth and epidermal nevus have decreased by more than 50% (panels A to E) and so has hypertrichosis (barely visible on the pictures shown), while the venous ectasia and perineal mass have almost completely disappeared (panels E and F). G to J in red internal vascular malformations before treatment. Appearance of sigmoid (panel G) and colon at the splenic angle (panel H) based on endoscopic images. The mucosae are seen to harbor multiple vascular ectasias (black arrows in panels G and H) and vascular tortuosities (white arrows in panel H). Appearance of lower body based on MRI STIR- or T1-weighted images (panels I and J). Right leg, uterus and bladder are all seen to harbor multiple venous malformations. Note that the right hand and right foot were both affected by moderate adipose overgrowth (not shown). J in blue internal vascular malformations during treatment. Vascular malformations have decreased by more than 60% based on MRI T1-weighted images. A control colonoscopy has still to be conducted
See this image and copyright information in PMC

References

    1. Venot Q, Canaud G. Les syndromes de surcroissance segmentaire et les stratégies thérapeutiques [Segmental overgrowth syndromes and therapeutic strategies] Med Sci (Paris) 2020;36:235–242. doi: 10.1051/medsci/2020023. - DOI - PubMed
    1. Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, et al. Targeted therapy in patients with PIK3CA-related overgrowth syndrome. Nature. 2018;558:540–546. doi: 10.1038/s41586-018-0217-9. - DOI - PMC - PubMed
    1. Garneau AP, Haydock L, Tremblay LE, Isenring P. Somatic non-cancerous PIK3CA-related overgrowth syndrome treated with alpelisib in North America. J Mol Med (Berl) 2021;99:311–313. doi: 10.1007/s00109-020-02030-6. - DOI - PMC - PubMed
    1. Venot Q, Canaud G. PIK3CA-related overgrowth syndrome (PROS) Nephrol Ther. 2017;13:S155–S156. doi: 10.1016/j.nephro.2017.02.004. - DOI - PubMed
    1. Mussa A, Resta N. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. J Med Genet. 2022 doi: 10.1136/jmedgenet-2021-108093. - DOI - PubMed

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