References
1. Kamil D, Tepelmann J, Berg C, et al. Spectrum and outcome of prenatally diagnosed fetal tumors. Ultrasound Obstet Gynecol . 2008;31(3):296-302. doi:10.1002/uog.5260
2. Mikovic Z, Simic R, Egic A, et al. Intrauterine treatment of large fetal neck lymphangioma with OK-432. Fetal Diagn Ther . 2009;26(2):102-106. doi:10.1159/000238111
3. Amodeo I, Colnaghi M, Raffaeli G, et al. The use of sirolimus in the treatment of giant cystic lymphangioma: Four case reports and update of medical therapy. Medicine (Baltimore) . 2017;96(51):e8871. doi:10.1097/MD.0000000000008871
4. Knipping S, Bau V. Lymphatische Malformationen im Kopf-Hals-Bereich: Erfahrungen mit Sklerosierungstherapie. HNO . 2011;59(7):683-688. doi:10.1007/s00106-011-2284-1
5. Grasso D, Pelizzo G, Zocconi E, Schleef J. Lymphangiomas of the head and neck in children. Acta Otorhinolaryngol Ital . 2008;28(1):17-20.
6. Madsen RR, Vanhaesebroeck B, Semple RK. Cancer-Associated PIK3CA Mutations in Overgrowth Disorders. Trends Mol Med . 2018;24(10):856-870. doi:10.1016/j.molmed.2018.08.003
7. Cho JY, Lee YH. Fetal tumors: prenatal ultrasonographic findings and clinical characteristics. Ultrasonography . 2014;33(4):240-251. doi:10.14366/usg.14019
8. Axt-Fliedner R, Hendrik HJ, Schwaiger C, Ertan AK, Friedrich M, Schmidt W. Prenatal and perinatal aspects of a giant fetal cervicothoracal lymphangioma. Fetal Diagn Ther . 2002;17(1):3-7. doi:10.1159/000047996
9. De Graer C, Marangoni M, Romnée S, et al. Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation. Eur J Med Genet . 2020;63(4):103775. doi:10.1016/j.ejmg.2019.103775
10. Eivazi B, Werner JA. Lymphatische Malformationen im Kopf-Hals-Bereich. HNO . 2014;62(1):6-11. doi:10.1007/s00106-013-2803-3
11. Luks VL, N K, Mp V, et al. Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA. J Pediatr . 2015;166(4):1048-54.e1. doi:10.1016/j.jpeds.2014.12.069
12. Rodriguez-Laguna L, Agra N, Ibañez K, et al. Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly. J Exp Med . 2019;216(2):407-418. doi:10.1084/jem.20181353
13. Le Cras TD, Goines J, Lakes N, et al. Constitutively active PIK3CA mutations are expressed by lymphatic and vascular endothelial cells in capillary lymphatic venous malformation. Angiogenesis . 2020;23(3):425-442. doi:10.1007/s10456-020-09722-0
14. Keppler-Noreuil KM, Rios JJ, Parker VER, et al. PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation. Am J Med Genet A . 2015;0(2):287-295. doi:10.1002/ajmg.a.36836
15. McNulty SN, Evenson MJ, Corliss MM, et al. Diagnostic Utility of Next-Generation Sequencing for Disorders of Somatic Mosaicism: A Five-Year Cumulative Cohort. Am J Hum Genet . 2019;105(4):734-746. doi:10.1016/j.ajhg.2019.09.002
16. Spier I, Aretz S. Überwuchssyndrome durch Mutationsmosaike im PI3K-AKT-Signalweg. medgen . 2017;29(3):306-313. doi:10.1007/s11825-017-0153-3
17. Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, et al. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A . 2014;164A(7):1713-1733. doi:10.1002/ajmg.a.36552
18. Emrick LT, Murphy L, Shamshirsaz AA, et al. Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes. Am J Med Genet A . 2014;164A(10):2633-2637. doi:10.1002/ajmg.a.36672
19. Tseng J-J, Chou M-M, Chen W-H. Prenatal 3- and 4-dimensional Ultrasonographic Findings of Giant Fetal Nuchal Hemangioma.Journal of the Chinese Medical Association . 2007;70(10):460-463. doi:10.1016/S1726-4901(08)70040-6
20. Knox EM, Muamar B, Thompson PJ, Lander A, Chapman S, Kilby MD. The use of high resolution magnetic resonance imaging in the prenatal diagnosis of fetal nuchal tumors. Ultrasound in Obstetrics & Gynecology . 2005;26(6):672-675. doi:https://doi.org/10.1002/uog.2601
21. North PE. Classification and Pathology of Congenital and Perinatal Vascular Anomalies of the Head and Neck. Otolaryngol Clin North Am . 2018;51(1):1-39. doi:10.1016/j.otc.2017.09.020
22. Keppler-Noreuil KM, Parker VER, Darling TN, Martinez-Agosto JA. Somatic Overgrowth Disorders of the PI3K/AKT/mTOR Pathway & Therapeutic Strategies. Am J Med Genet C Semin Med Genet . 2016;172(4):402-421. doi:10.1002/ajmg.c.31531