Preview

Russian Pediatric Journal

Advanced search

Diagnosis and treatment of lymphatic malformations: experience of the surgical department for newborns and infants

https://doi.org/10.46563/1560-9561-2023-26-4-242-251

EDN: ivbhwh

Abstract

Introduction. Lymphatic malformations (LM) are a congenital pathology of lymphatic vessels that arose during embryogenesis. The relevance of the research topic is due to the rarity, variety of clinical manifestations, and the lack of clinical recommendations for treatment. Aim. To evaluate our experience of surgical and conservative treatment of LM in the surgical department for newborns and infants.

Materials and methods. We performed a retrospective analysis of infants with various forms of LM treated at our department from 2017 to 2022. The study protocol was approved by the local ethics committee. The patients’ parents gave written voluntary informed consent to participate in the study.

Results. Depending on the form of a LM, the infants underwent conservative therapy, sclerotherapy or surgical resection of the LM.

Conclusions. Genetic tests for the spectrum of overgrowth syndromes are necessary for all LM patients to clarify the etiology of the process, prevent recurrence and complications.

Contribution:
Gurskaya A.S. — concept and design of the study;
Sulavko M.A., Nakovkin O.N., Karnuta I.V., Bayazitov R.R., Ekimovskaya E.V., Khagurov R.A., Sagoyan G.B. — collection and processing of material;
Gurskaya A.S., Sulavko M.A., Ekimovskaya E.V., Fisenko A.P. — writing and editing the text.
All co-authors — approval of the final version of the article, responsibility for the integrity of all parts of the article.

Acknowledgment. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: May 19, 2023
Accepted: June 20, 2023
Published: August 31, 2023

About the Authors

Aleksandra S. Gurskaya
National Medical Research Center for Children’s Health
Russian Federation


Mariya A. Sulavko
National Medical Research Center for Children’s Health
Russian Federation

Pediatric surgeon, Department of neonatal and pediatric surgery, National Medical Research Center for Children’s Health, Moscow, 119991, Russian Federation.

e-mail: sulavko.ma@nczd.ru



Rimir R. Bayazitov
National Medical Research Center for Children’s Health
Russian Federation


Ekaterina V. Ekimovskaya
National Medical Research Center for Children’s Health
Russian Federation


Oleg N. Nakovkin
National Medical Research Center for Children’s Health
Russian Federation


Inna V. Karnuta
National Medical Research Center for Children’s Health
Russian Federation


Anna A. Klepikova
National Medical Research Center for Children’s Health
Russian Federation


Garik B. Sagoyan
N.N. Blokhin National Medical Research Center of Oncology
Russian Federation


Ruslan A. Hagurov
N.F. Filatov Children’s City Hospital
Russian Federation


Andrey P. Fisenko
National Medical Research Center for Children’s Health
Russian Federation


References

1. Kulungowski A.M., Patel M. Lymphatic malformations. Semin. Pediatr. Surg. 2020; 29(5): 150971. https://doi.org/10.1016/j.sempedsurg.2020.150971

2. Poget M., Fresa M., El Ezzi O., Saliou G., Doan M.T., de Buys Roessingh A. Lymphatic malformations in children: retrospective review of surgical and interventional management. Pediatr. Surg. Int. 2022; 39(1): 36. https://doi.org/10.1007/s00383-022-05320-x

3. Olive G., Kipnis J., Randolph G.J., Harvey N.L. The lymphatic vasculature in the 21st century: novel functional roles in homeostasis and disease. Cell. 2020; 182(2): 270–96. https://doi.org/10.1016/j.cell.2020.06.039

4. Sadick M., Müller-Wille R., Wildgruber M., Wohlgemuth W.A. Vascular anomalies (Part I): classification and diagnostics of vascular anomalies. Rofo. 2018; 190(9): 825–35. https://doi.org/10.1055/a-0620-8925

5. Kunimoto K., Yamamoto Y., Jinnin M. ISSVA classification of vascular anomalies and molecular biology. Int. J. Mol. Sci. 2022; 23(4): 2358. https://doi.org/10.3390/ijms23042358

6. Das A., Goyal A., Sangwan A., Bhalla A.S., Kumar A., Kandasamy D., et al. Vascular anomalies: nomenclature, classification, and imaging algorithms. Acta Radiol. 2023; 64(2): 837–49. https://doi.org/10.1177/02841851221082241

7. Byrne A.B., Brouillard P., Sutton D.L., Kazenwadel J., Montazaribarforoushi S., Secker G.A., et al. Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Sci. Transl. Med. 2022; 14(634): eabm4869. https://doi.org/10.1126/scitranslmed.abm4869

8. Shaheen M.F., Tse J.Y., Sokol E.S., Masterson M., Bansal P., Rabinowitz I., et al. Genomic landscape of lymphatic malformations: a case series and response to the PI3Kα inhibitor alpelisib in an N-of-1 clinical trial. Elife. 2022; 11: e74510. https://doi.org/10.7554/eLife.74510

9. Snyder E.J., Sarma A., Borst A.J., Tekes A. Lymphatic anomalies in children: update on imaging diagnosis, genetics, and treatment. AJR Am. J. Roentgenol. 2022; 218(6): 1089–101. https://doi.org/10.2214/AJR.21.27200

10. Queisser A., Seront E., Boon L.M., Vikkula M. Genetic basis and therapies for vascular anomalies. Circ. Res. 2021; 129(1): 155–73. https://doi.org/10.1161/CIRCRESAHA.121.318145

11. Hughes M., Hao M., Luu M. PIK3CA vascular overgrowth syndromes: an update. Curr. Opin. Pediatr. 2020; 32(4): 539–46. https://doi.org/10.1097/MOP.0000000000000923

12. Sagoyan G.B., Kletskaya I.S., Imyanitov E.N., Mareeva Yu.M., Zhukov N.V., Khagurov R.A., et al. A spectrum of overgrowth syndromes associated with the PIK3CA mutation. Literature review. Rossiyskiy zhurnal detskoy gematologii i onkologii. 2022; 9(1): 29–44. https://doi.org/10.21682/2311-1267-2022-9-1-29-44 https://elibrary.ru/gayqoy (in Russian)

13. Akgumus G., Chang F., Li M.M. Overgrowth syndromes caused by somatic variants in the phosphatidylinositol 3-Kinase/AKT/mammalian target of rapamycin pathway. J. Mol. Diagn. 2017; 19(4): 487–97. https://doi.org/10.1016/j.jmoldx.2017.04.001

14. Chen H., Gao W., Liu H., Sun B., Hua C., Lin X. Updates on diagnosis and treatment of PIK3CA-related overgrowth spectrum. Ann. Plast. Surg. 2023; 90(5S Suppl. 2): 209–15. https://doi.org/10.1097/SAP.0000000000003389

15. Reynolds G., Cardaropoli S., Carli D., Luca M., Gazzin A., Coppo P., et al. Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros). Eur. J. Hum. Genet. 2023. https://doi.org/10.1038/s41431-023-01414-9

16. Dasgupta R., Fishman S.J. ISSVA classification. Semin. Pediatr. Surg. 2014; 23(4): 158–61. https://doi.org/10.1053/j.sempedsurg.2014.06.016

17. Andrews L., Shope C., Lee L.W., Hochman M. Vascular anomalies: nomenclature and diagnosis. Dermatol. Clin. 2022; 40(4): 339–43. http://doi.org/10.1016/j.det.2022.06.007

18. Utami A.M., Lokhorst M.M., Meijer-Jorna L.B., Kruijt M.A., Horbach S.E.R., de Boer O.J., et al. Lymphatic differentiation and microvascular proliferation in benign vascular lesions of skin and soft tissue: Diagnostic features following the International Society for The Study of Vascular Anomalies Classification-A retrospective study. JAAD Int. 2023; 12: 15–23. https://doi.org/10.1016/j.jdin.2023.03.009

19. Bellini C., Ergaz Z., Radicioni M., Forner-Cordero I., Witte M., Perotti G., et al. Congenital fetal and neonatal visceral chylous effusions: neonatal chylothorax and chylous ascites revisited. A multicenter retrospective study. Lymphology. 2012; 45(3): 91–102.

20. Aboudara M., Maldonado F. Update in the management of pleural effusions. Med. Clin. North Am. 2019; 103(3): 475–85. https://doi.org/10.1016/j.mcna.2018.12.007

21. Miranda W.R., Oh J.K. Effusive-constrictive pericarditis. Cardiol. Clin. 2017; 35(4): 551–8. https://doi.org/10.1016/j.ccl.2017.07.008

22. Harnarayan P., Harnanan D. The Klippel-Trénaunay syndrome in 2022: Unravelling its genetic and molecular profile and its link to the limb overgrowth syndromes. Vasc. Health Risk Manag. 2022; 18: 201–9. https://doi.org/10.2147/VHRM.S358849

23. Lui J.C., Baron J. Epigenetic causes of overgrowth syndromes. J. Clin. Endocrinol. Metab. 2023; dgad420. https://doi.org/10.1210/clinem/dgad420

24. Kucherov Yu.I., Kholodnova N.V., Adleyba S.R., Belaya A.L., Makarova L.M., Ovsyannikova M.A., et al. Chyloperitoneum in newborns: etiology, pathogenesis, diagnostics and treatment. Detskaya khirurgiya. 2019; 23(3): 139–42. http://doi.org/10.18821/1560-9510-2019-23-3-139-142 https://elibrary.ru/tgzpra (in Russian)

25. Ayman A., El-Asmar Khaled M., Mohamed M., Sameh A. Surgical management of congenital chylous ascites. Ann. Pediatr. Surg. 2018; 14(2): 56–9. https://doi.org/10.1097/01.XPS.0000525972.33509.0

26. Barrera C.A., Victoria T., Escobar F.A., Krishnamurthy G., Smith C.L., Moldenhauer J.S., et al. Imaging of fetal lymphangiectasias: prenatal and postnatal imaging findings. Pediatr. Radiol. 2020; 50(13): 1872–80. https://doi.org/10.1007/s00247-020-04673-6

27. Johnson A.B., Richter G.T. Surgical considerations in vascular malformations. Tech. Vasc. Interv. Radiol. 2019; 22(4): 100635. https://doi.org/10.1016/j.tvir.2019.100635

28. Pessanha I., Bravo M., Piedade C., Lopes M.F. Complex lymphatic malformations in pediatrics: a review of treatment options. Minerva Pediatr. (Torino). 2022; 74(1): 70–80. https://doi.org/10.23736/S2724-5276.20.06037-5

29. Gurskaya A.S., Nakovkin O.N., Fisenko A.P., Bayazitov R.R., Akhmedova D.M., Karnuta I.V., et al. Successful immunosuppressive treatment of chyloperitoneum in the newborn infant with multiple congenital anomalies. Rossiyskiy pediatricheskiy zhurnal. 2022; 25(5): 321–5. https://doi.org/10.46563/1560-9561-2022-25-5-321-325 https://elibrary.ru/mkcslh (in Russian)

30. Shchukina A.A., Mokrushina O.G., Gurskaya A.S., D’yakonova E.Yu. Current issues of diagnosis and treatment of neonatal omphalocele. Rossiyskiy pediatricheskiy zhurnal. 2020; 23(2): 126–31. https://doi.org/10.18821/1560-9561-2020-23-2-126-131 https://elibrary.ru/hrmzbe (in Russian)

31. Poddubnyy I.V., Syt’kov V.V., Yatsyk S.P., Smirnov I.E., Kucherov Yu.I., Rekhviashvili M.G., et al. Multidisciplinary approach in the treatment of a newborn child with chylotorax. Rossiyskiy pediatricheskiy zhurnal. 2020; 23(3): 208–12. https://doi.org/10.18821/1560-9561-2020-23-3-208-212 https://elibrary.ru/qzugnw (in Russian)

32. Donyush E.K., Kondrashova Z.A., Polyaev Yu.A., Garbuzov R.V. Sirolimus for the treatment of vascular anomalies in children. Rossiyskiy zhurnal detskoy gematologii i onkologii. 2020; 7(3): 22–31. https://doi.org/10.21682/2311-1267-2020-7-3-22-31 https://elibrary.ru/wkdtjc (in Russian)

33. Roehr Ch.C., Jung A., Proquitté H., Blankenstein O., Hammer H., Lakhoo K., et al. Somatostatin or octreotide as treatment options for chylothorax in young children: a systematic review. Intensive Care Med. 2006; 32(5): 650–7. https://doi.org/10.1007/s00134-006-0114-9

34. Saibene A.M., Rosso C., Felisati G., Pignataro L., Schindler A., Ghilardi G., et al. Sirolimus treatment for paediatric head and neck lymphatic malformations: a systematic review. Eur. Arch. Otorhinolaryngol. 2023; 280(8): 3529–40. https://doi.org/10.1007/s00405-023-07991-1

35. Lau A.C.W., Hsu P.Y.H., Ng D., Luecke K., Nayar S. Management of malignant chylothorax with subcutaneous octreotide treatment. J. Pain Palliat. Care Pharmacother. 2021; 35(1): 48–51. https://doi.org/10.1080/15360288.2021.1883180

36. Jenkinson A.C., McGuinness J., Prendiville T. Octreotide for acquired chylothorax in pediatric patients post-cardiothoracic surgery for congenital heart disease: a systematic review. Pediatr. Cardiol. 2023; 44(2): 297–305. https://doi.org/10.1007/s00246-022-03024-6

37. Scuglia M., Conforti A., Valfrè L., Totonelli G., Iacusso C., Iacobelli B.D., et al. Operative management of neonatal lymphatic malformations: lesson learned from 57 consecutive cases. Front. Pediatr. 2021; 9: 709223. https://doi.org/10.3389/fped.2021.709223

38. Markovic J.N., Nag U., Shortell C.K. Safety and efficacy of foam sclerotherapy for treatment of low-flow vascular malformations in children. J. Vasc. Surg. Venous Lymphat. Disord. 2020; 8(6): 1074–82. https://doi.org/10.1016/j.jvsv.2019.11.023

39. Gasparella P., Beqo B.P., Haxhija E.Q., Castellani C., Arneitz C., Sorantin E., et al. Chylous content might determine the optimal surgical approach for mesenteric lymphatic malformations in childhood. J. Vasc. Surg. Venous Lymphat. Disord. 2022; 10(2): 430–5. https://doi.org/10.1016/j.jvsv.2021.06.008

40. Hori Y., Ozeki M., Hirose K., Matsuoka K., Matsui T., Kohara M., et al. Analysis of mTOR pathway expression in lymphatic malformation and related diseases. Pathol. Int. 2020; 70(6): 323–9. https://doi.org/10.1111/pin.12913

41. Alhasoon M.A. The use of high dose octreotide in management of neonatal chylothorax: Review. J. Neonatal. Perinatal. Med. 2021; 14(4): 457–61. https://doi.org/10.3233/NPM-200644

42. Teng J.M.C., Hammill A., Martini J., Treat J. Sirolimus in the treatment of microcystic lymphatic malformations: a systematic review. Lymphat. Res. Biol. 2023; 21(2): 101–10. https://doi.org/10.1089/lrb.2021.0103

43. Aboudara M., Maldonado F. Update in the management of pleural effusions. Med. Clin. North Am. 2019; 103(3): 475–85. https://doi.org/10.1016/j.mcna.2018.12.007

44. Geeurickx M., Labarque V. A narrative review of the role of sirolimus in the treatment of congenital vascular malformations. J. Vasc. Surg. Venous. Lymphat. Disord. 2021; 9(5): 1321–33. https://doi.org/10.1016/j.jvsv.2021.03.001.4

45. Van Damme A., Seront E., Dekeuleneer V., Boon L.M., Vikkula M. New and emerging targeted therapies for vascular malformations. Am. J. Clin. Dermatol. 2020; 21(5): 657–68. https://doi.org/10.1007/s40257-020-00528-w

46. Engel E.R., Hammill A., Adams D., Phillips R.J., Jeng M., Tollefson M.M., et al. Response to sirolimus in capillary lymphatic venous malformations and associated syndromes: Impact on symptomatology, quality of life, and radiographic response. Pediatr. Blood Cancer. 2023; 70(4): e30215. https://doi.org/10.1002/pbc.30215

47. Chang F., Liu L., Fang E., Zhang G., Chen T., Cao K., et al. Molecular diagnosis of mosaic overgrowth syndromes using a custom-designed next-generation sequencing panel. J. Mol. Diagn. 2017; 19(4): 613–24. https://doi.org/10.1016/j.jmoldx.2017.04.006

48. Rogerson D., Alkelai A., Giordano J., Pantrangi M., Hsiao M.C., Nhan-Chang C.L., et al. Investigation into the genetics of fetal congenital lymphatic anomalies. Prenat. Diagn. 2023; 43(6): 703–16. https://doi.org/10.1002/pd.6345


Review

For citations:


Gurskaya A.S., Sulavko M.A., Bayazitov R.R., Ekimovskaya E.V., Nakovkin O.N., Karnuta I.V., Klepikova A.A., Sagoyan G.B., Hagurov R.A., Fisenko A.P. Diagnosis and treatment of lymphatic malformations: experience of the surgical department for newborns and infants. Russian Pediatric Journal. 2023;26(4):242-251. (In Russ.) https://doi.org/10.46563/1560-9561-2023-26-4-242-251. EDN: ivbhwh

Views: 207


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1560-9561 (Print)
ISSN 2413-2918 (Online)