Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2023; 22: 142-151
Капошиформный лимфангиоматоз с феноменом Казабаха–Мерритт
https://doi.org/10.24287/1726-1708-2023-22-2-142-151Аннотация
Капошиформный лимфангиоматоз (kaposiform lymphangiomatosis, KLA) – это агрессивная лимфатическая аномалия, сочетающаяся с поражением костей, серозитами различной локализации, развитием феномена Казабаха–Мерритт, а также высоким уровнем инфекционных осложнений. В настоящее время Международным обществом по изучению сосудистых аномалий (International Society for the Study of Vascular Anomalies) KLA рассматривается как подтип генерализованной лимфатической аномалии. В качестве специфической терапии чаще всего применяется mTOR-ингибитор рапамицин в комбинации с симптоматическим лечением. Однако единых стандартов ведения пациентов нет. Даже при современной диагностике и комплексной терапии 5-летняя выживаемость составляет 51 %, а средняя продолжительность жизни – 2,75 года. В данной статье представлен классический случай KLA, протекавший в сочетании с феноменом Казабаха–Мерритт, с успешным применением в качестве специфической терапии рапамицина и липосомальной формы доксорубицина. Родители пациента дали согласие на использование информации, в том числе фотографий ребенка, в научных исследованиях и публикациях.
Список литературы
1. Croteau S. E., Kozakewich H. P. W., Perez-Atayde A. R., Fishman S. J., Alomari A. I., Gulraiz C., et al. Kaposiform lymphangiomatosis: A distinct aggressive lymphatic anomaly. J Pediatr 2014; 164 (2): 383–8.
2. Ozeki M., Asada R., Saito A. M., Hashimoto H., Fujimura T., Kuroda T., et al. Efficacy and safety of sirolimus treatment for intractable lymphatic anomalies: A study protocol for an open-label, single-arm, multicenter, prospective study (SILA). Regen Ther 2019; 10: 84–91.
3. Crane J., Mantredo J., Boscolo E., Coyan M., Takemoto C., Itkin M., et al. Kaposiform lymphangiomatosis treated with multimodal therapy improves coagulopathy and reduces blood angiopoietin-2 levels. Pediatr Blood Cancer 2020; 67 (9): e28529.
4. Ji Y., Chen S., Peng S., Xia C., Li L. Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: Similarities and differences. Orphanet J Rare Dis 2019; 14 (1): 165.
5. Satria M. N., Pacheco-Rodriguez G., Moss J. Pulmonary lymphangiomatosis Lymphat Res Biol 2011; 9 (4): 191–3.
6. Alvarez O. A., Kjellin I., Zuppan C. W. Thoracic Lymphangiomatosis in a Child. J Pediatr Hematol Oncol 2004; 26 (2): 136–41.
7. Mulliken J. B., Glowacki J. Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plast Reconstr Surg 1982; 69 (3): 412–22.
8. Ozeki M., Fujino A., Matsuoka K., Nosaka S., Kuroda T., Fukao T. Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease. Pediatr Blood Cancer 2016; 63 (5): 832–38.
9. Ozeki M., Fukao T. Generalized Lymphatic Anomaly and Gorham-Stout Disease: Overview and Recent Insights. Adv Wound Care (New Rochelle) 2019; 8 (6): 230–45.
10. Fernandes V. M., Fargo J., Saini S., Guerrera M. F., Marcus L., Luchtman-Jones L., et al. Kaposiform lymphangiomatosis: Unifying features of a heterogeneous disorder. Pediatr Blood Cancer 2015; 62 (5): 901–4.
11. Adams D. M., Ricci K. W. Vascular Anomalies: Diagnosis of Complicated Anomalies and New Medical Treatment Options. Hematol Oncol Clin North Am 2019; 33 (3): 455–70.
12. Enjolras О., Wassef M., Mazoyer E., Taïeb A., Stalder J.-F., Escande J.-P., et al. Infants with Kasabach–Merritt syndrome do not have “true” hemangiomas. Pediatr 1997; 130 (4): 631–40.
13. Mahajan P., Margolin J., Iacobas I. Kasabach–Merritt Phenomenon: Classic Presentation and Management Options. Clin Med Insights Blood Disorders 2017; 10: 1–5.
14. Sarkar M., Mulliken J. B., Kozakewich H. P. W., Robertson R. L., Burrows P. E. Thrombocytopenic coagulopathy (Kasabach-Merritt phenomenon) is associated with Kaposiform hemangioendothelioma and not with common infantile hemangioma. Plast Reconstr Surg 1997; 100 (6): 1377–86.
15. Downward J. Targeting RAS signalling pathways in cancer therapy. Nat Rev Cancer 2003; 3 (1): 11–22.
16. Shaw R. J., Cantley L. C. Ras, PI(3) K and mTOR signalling controls tumour cell growth. Nature 2006; 441 (7092): 424–30.
17. Barclay S. F., Inman K. W., Luks V., Mclntyre J. B., Al-Ibraheemi A., Church A. J., et al. A somatic activating NRAS variant associated with kaposiform lymphangiomatosis. Genet Med 2019; 21 (7): 1517–24.
18. Ozeki M., Aoki Y., Nozawa A., Yasue S., Endo S., Hori Y., Matsuoka K., et al. Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis. Orphanet J Rare Dis 2019; 14 (1): 215.
19. Hammill A. M., Wentzel M., Gupta A., Nelson S., Lucky A., Elluru R., et al. Sirolimus for the treatment of complicated vascular anomalies in children. Pediatr Blood Cancer 2011; 57 (6): 1018–24.
20. Adams D. M., Trenor C. C., Hammill A. M., Vinks A. A., Patel M. N., Chaudry G., et al. Efficacy and Safety of Sirolimus in the Treatment of Complicated Vascular Anomalies. Pediatrics 2016; 137 (2): e20153257.
21. Хачатрян Л. А. Терапия детей с синдромом Казабаха–Мерритт / Л. А. Хачатрян [и др.] // Педиатрия. Журнал им. Г. Н. Сперанского. – 2018. – 97 (4): 125–34. DOI: 10.24110/0031-403X-2018-97-4-125-134
Pediatric Hematology/Oncology and Immunopathology. 2023; 22: 142-151
Kaposiform lymphangiomatosis with Kasabach–Merritt phenomenon
https://doi.org/10.24287/1726-1708-2023-22-2-142-151Abstract
Kaposiform lymphangiomatosis (KLA) is an aggressive lymphatic anomaly associated with bone involvement, serositis occurring at various sites, the development of Kasabach–Merritt phenomenon, and frequent infectious complications. The International Society for the Study of Vascular Anomalies classifies KLA as a subtype of generalized lymphatic anomaly. The mTOR-inhibitor rapamycin in combination with symptomatic treatment is the most common specific treatment. However, there are no standard approaches to the management of KLA. Even with modern diagnostic tools and combination therapy, the 5-year survival rate is 51 %, and the average life expectancy is 2.75 years. This article presents a classic case of KLA associated with Kasabach–Merritt phenomenon that was successfully managed with rapamycin and a liposomal form of doxorubicin as specific therapy. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.
References
1. Croteau S. E., Kozakewich H. P. W., Perez-Atayde A. R., Fishman S. J., Alomari A. I., Gulraiz C., et al. Kaposiform lymphangiomatosis: A distinct aggressive lymphatic anomaly. J Pediatr 2014; 164 (2): 383–8.
2. Ozeki M., Asada R., Saito A. M., Hashimoto H., Fujimura T., Kuroda T., et al. Efficacy and safety of sirolimus treatment for intractable lymphatic anomalies: A study protocol for an open-label, single-arm, multicenter, prospective study (SILA). Regen Ther 2019; 10: 84–91.
3. Crane J., Mantredo J., Boscolo E., Coyan M., Takemoto C., Itkin M., et al. Kaposiform lymphangiomatosis treated with multimodal therapy improves coagulopathy and reduces blood angiopoietin-2 levels. Pediatr Blood Cancer 2020; 67 (9): e28529.
4. Ji Y., Chen S., Peng S., Xia C., Li L. Kaposiform lymphangiomatosis and kaposiform hemangioendothelioma: Similarities and differences. Orphanet J Rare Dis 2019; 14 (1): 165.
5. Satria M. N., Pacheco-Rodriguez G., Moss J. Pulmonary lymphangiomatosis Lymphat Res Biol 2011; 9 (4): 191–3.
6. Alvarez O. A., Kjellin I., Zuppan C. W. Thoracic Lymphangiomatosis in a Child. J Pediatr Hematol Oncol 2004; 26 (2): 136–41.
7. Mulliken J. B., Glowacki J. Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plast Reconstr Surg 1982; 69 (3): 412–22.
8. Ozeki M., Fujino A., Matsuoka K., Nosaka S., Kuroda T., Fukao T. Clinical Features and Prognosis of Generalized Lymphatic Anomaly, Kaposiform Lymphangiomatosis, and Gorham-Stout Disease. Pediatr Blood Cancer 2016; 63 (5): 832–38.
9. Ozeki M., Fukao T. Generalized Lymphatic Anomaly and Gorham-Stout Disease: Overview and Recent Insights. Adv Wound Care (New Rochelle) 2019; 8 (6): 230–45.
10. Fernandes V. M., Fargo J., Saini S., Guerrera M. F., Marcus L., Luchtman-Jones L., et al. Kaposiform lymphangiomatosis: Unifying features of a heterogeneous disorder. Pediatr Blood Cancer 2015; 62 (5): 901–4.
11. Adams D. M., Ricci K. W. Vascular Anomalies: Diagnosis of Complicated Anomalies and New Medical Treatment Options. Hematol Oncol Clin North Am 2019; 33 (3): 455–70.
12. Enjolras O., Wassef M., Mazoyer E., Taïeb A., Stalder J.-F., Escande J.-P., et al. Infants with Kasabach–Merritt syndrome do not have “true” hemangiomas. Pediatr 1997; 130 (4): 631–40.
13. Mahajan P., Margolin J., Iacobas I. Kasabach–Merritt Phenomenon: Classic Presentation and Management Options. Clin Med Insights Blood Disorders 2017; 10: 1–5.
14. Sarkar M., Mulliken J. B., Kozakewich H. P. W., Robertson R. L., Burrows P. E. Thrombocytopenic coagulopathy (Kasabach-Merritt phenomenon) is associated with Kaposiform hemangioendothelioma and not with common infantile hemangioma. Plast Reconstr Surg 1997; 100 (6): 1377–86.
15. Downward J. Targeting RAS signalling pathways in cancer therapy. Nat Rev Cancer 2003; 3 (1): 11–22.
16. Shaw R. J., Cantley L. C. Ras, PI(3) K and mTOR signalling controls tumour cell growth. Nature 2006; 441 (7092): 424–30.
17. Barclay S. F., Inman K. W., Luks V., Mclntyre J. B., Al-Ibraheemi A., Church A. J., et al. A somatic activating NRAS variant associated with kaposiform lymphangiomatosis. Genet Med 2019; 21 (7): 1517–24.
18. Ozeki M., Aoki Y., Nozawa A., Yasue S., Endo S., Hori Y., Matsuoka K., et al. Detection of NRAS mutation in cell-free DNA biological fluids from patients with kaposiform lymphangiomatosis. Orphanet J Rare Dis 2019; 14 (1): 215.
19. Hammill A. M., Wentzel M., Gupta A., Nelson S., Lucky A., Elluru R., et al. Sirolimus for the treatment of complicated vascular anomalies in children. Pediatr Blood Cancer 2011; 57 (6): 1018–24.
20. Adams D. M., Trenor C. C., Hammill A. M., Vinks A. A., Patel M. N., Chaudry G., et al. Efficacy and Safety of Sirolimus in the Treatment of Complicated Vascular Anomalies. Pediatrics 2016; 137 (2): e20153257.
21. Khachatryan L. A. Terapiya detei s sindromom Kazabakha–Merritt / L. A. Khachatryan [i dr.] // Pediatriya. Zhurnal im. G. N. Speranskogo. – 2018. – 97 (4): 125–34. DOI: 10.24110/0031-403X-2018-97-4-125-134
