Генетическое консультирование. При изолированных лимфатических мальформациях и синдромных формах иногда выявляются соматические (мозаичные) мутации, влияющие на ген PIK3CA. Это говорит о том, что вероятность наследования данной патологии детьми пациента очень мала.
Описание клинического случая
Ребенок 2 лет с диагнозом лимфатическая мальформация в области правой половины шеи. Представлена МРТ картина в режиме Т2 (в середине). После 1 этапа склерозирования препаратом «Гемоблок» отмечается выраженное клиническое улучшение. Патент №2804229
Список литературы
– Sjogren PP, Arnold RW, Skirko JR, Grimmer JF. Anatomic distribution of cervicofacial lymphatic malformations based on lymph node groups. Int J Pediatr Otorhinolaryngol. 2017;97:72—5.
– Wiegand S, Eivazi B, Barth PJ, Von Rautenfeld DB, Folz BJ, Mandic R, et al. Pathogenesis of lymphangiomas. Virchows Arch. 2008;453:1—8.
– Hogeling M, Adams S, Law J, Wargon O. Lymphatic malformations: clinical course and management in 64 cases. Australas J Dermatol. 2011;52:186—90.
– Stone OA, Stainier DYR. Paraxial mesoderm is the major source of lymphatic endothelium. Dev Cell. 2019;50:247—255.e3.
– Zenner K, Cheng CV, Jensen DM, Timms AE, Shivaram G, Bly R, et al. Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations. JCI insight. 2019;4: e129884.
– Martinez-Corral I, Zhang Y, Petkova M, Ortsäter H, Sjöberg S, Castillo SD, et al. Blockade of VEGF-C signaling inhibits lymphatic malformations driven by oncogenic PIK3CA mutation. Nat Commun. 2020;11:1—14.
– Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, et al. Vascular anomalies classification: recommendations from the international society for the study of vascular anomalies. Pediatrics. 2015;136:e203—14.
– Keppler-Noreuil KM, Rios JJ, Parker VER, Semple RK, Lindhurst MJ, Sapp JC, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet Part A. 2015;167:287—95.
– Olive A, Moldenhauer JS, Laje P, Johnson MP, Coleman BG, Victoria T, et al. Axillary lymphatic malformations: prenatal evaluation and postnatal outcomes. J Pediatr Surg. 2015;50:1711—5.
– Dompmartin A, Ballieux F, Thibon P, Lequerrec A, Hermans C, Clapuyt P, et al. Elevated D-dimer level in the differential diagnosis of venous malformations. Arch Dermatol. 2009;145:1239—44.
– Perkins JA. New Frontiers in our understanding of lymphatic malformations of the head and neck: natural history and basic research. Otolaryngol Clin North Am. 2018;51:147—58.
– Iacobas I, Adams DM, Pimpalwar S, Phung T, Blei F, Burrows P, et al. Multidisciplinary guidelines for initial evaluation of complicated lymphatic anomalies – expert opinion consensus. Pediatr Blood Cancer. 2020;67:e28036.
– Phang MJ, Courtemanche DJ, Bucevska M, Malic C, Arneja JS. Spontaneously resolved macrocystic lymphatic malformations: predictive variables and outcomes. Plast Surg. 2017;25:27—31.
– Perkins JA, Maniglia C, Magit A, Sidhu M, Manning SC, Chen EY. Clinical and radiographic findings in children with spontaneous lymphatic malformation regression. Otolaryngol Head Neck Surg. 2008;138:772—7.
– Horbach SER, Lokhorst MM, Saeed P, De Goüyon Matignon De Pontouraude CMF, Rothová A, Van Der Horst CMAM. Sclerotherapy for low-flow vascular malformations of the head and neck: A systematic review of sclerosing agents. J Plast Reconstr Aesthetic Surg. 2016;69:295—304.
– Tu JH, Do HM, Patel V, Yeom KW, Teng JMC. Sclerotherapy for lymphatic malformations of the head and neck in the pediatric population. J Neurointerv Surg. 2017;9:1022—5.