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Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2023; 22: 134-143

Врожденная веретеноклеточная рабдомиосаркома грудной стенки у пациента 1 месяца

Ускова Н. Г., Выставкина Н. А., Талыпов С. Р., Ахаладзе Д. Г., Страдомская Т. В., Рощин В. Ю., Качанов Д. Ю., Грачев Н. С.

https://doi.org/10.24287/1726-1708-2023-22-4-134-143

Аннотация

В настоящей статье представлен редкий клинический случай пациента грудного возраста с врожденной веретеноклеточной рабдомиосаркомой, продемонстрирован комбинированный подход в терапии, описано выполненное реконструктивно-пластическое оперативное вмешательство, проанализированы ближайшие и отдаленные результаты проведенного лечения с акцентом на поздних ортопедических осложнениях, приведена подробная литературная справка по теме публикации. Родители пациента дали согласие на использование информации, в том числе фотографий ребенка, в научных исследованиях и публикациях.

Список литературы

1. Mulita F., Parchas N., Germanos S., Papadoulas S., Maroulis I. Case report of a local recurrence of spindle cell embryonal rhabdomyosarcoma. Med Arch 2020; 74 (3): 240–2. DOI: 10.5455/medarh.2020.74.240-242

2. Saltsman J.A., Danzer E., Hammond W.J., Rhee D., Berhe S., Monteagudo J., et al. Survival and scoliosis following resection of chest wall tumors in children and adolescents: a single-center retrospective analysis. Ann Surg 2021; 274 (2): e167–73. DOI: 10.1097/SLA.0000000000003495

3. Soyer T., Karnak I., Ciftci A.O., Senocak M.E., Tanyel F.C., Büyükpamukcu N. The results of surgical treatment of chest wall tumors in childhood. Pediatr Surg Int 2006; 22 (2): 135–9. DOI: 10.1007/s00383-005-1537-z

4. Hayes-Jordan A., Stoner J.A., Anderson J.R., Rodeberg D., Weiner G., Meyer W.H., et al. The impact of surgical excision in chest wall rhabdomyosarcoma: a report from the Children’s Oncology Group. J Pediatr Surg 2008; 43 (5): 831–6. DOI: 10.1016/j.jpedsurg.2007.12.021

5. La Quaglia M.P. Chest wall tumors in childhood and adolescence. Semin Pediatr Surg 2008; 17 (3): 173–80. DOI: 10.1053/j.sempedsurg.2008.03.007

6. Lopez C., Correa A., Vaporciyan A., Austin M., Rice D., Hayes-Jordan A. Outcomes of chest wall resections in pediatric sarcoma patients. J Pediatr Surg 2017; 52 (1): 109–14. DOI: 10.1016/j.jpedsurg.2016.10.035

7. Gangopadhyay A., Nandy K., Puj K., Sharma M., Jayaprakash D., Salunke A., et al. Primary chest wall sarcoma; a single institution experience of 3 years. Cancer Treat Res Commun 2021; 27: 100326. DOI: 10.1016/j.ctarc.2021.100326

8. [Electronic resource] CWS-guidance. URL: https://fnkc.ru/fnkc/docs/CWS-2009.pdf. (accessed 22.01.2023).

9. Colletti M., Galardi A., Miele E., Di Paolo V., Russo I., De Stefanis C., et al. Establishment and characterization of a cell line (S-RMS1) derived from an infantile spindle cell rhabdomyosarcoma with SRF-NCOA2 fusion transcript. Int J Mol Sci 2021; 22 (11): 5484. DOI: 10.3390/ijms22115484

10. Russo I., Di Paolo V., Gurnari C., Mastronuzzi A., Del Bufalo F., Di Paolo P.L., et al. Congenital rhabdomyosarcoma: a different clinical presentation in two cases. BMC Pediatr 2018; 18: 166. DOI: 10.1186/s12887-018-1128-5

11. Siegel R.L., Miller K.D., Fuchs H.E., Jemal A. Cancer statistics, 2021. CA Cancer J Clin 2021; 71 (1): 7–33. DOI: 10.3322/caac.21654

12. Mentzel T., Kuhnen C. Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new cases. Virchows Arch 2006; 449 (5): 554–60. DOI: 10.1007/s00428-006-0284-4

13. Nascimento A.F., Fletcher C.D.M. Spindle cell rhabdomyosarcoma in adults. Am J Surg Pathol 2005; 29 (8): 1106–13.

14. Fletcher C.D.M., Bridge J.A., Hogendoorn P.C.W., Mertens F. (eds.). WHO classification of tumours of soft tissue and bone. 4th ed., vol. 5. IARC; Lyon, France; 2013.

15. Dagher R., Helman L. Rhabdomyosarcoma: an overview. Oncologist 1999; 4 (1): 34–44.

16. Zhang J., Walsh M.F., Wu G., Edmonson M.N., Gruber T.A., Easton J., et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med 2015; 373 (24): 2336–46. DOI: 10.1056/NEJMoa1508054

17. Lundgren L., Angervall L., Stenman G., Kindblom L.G. Infantile rhabdomyofibrosarcoma: a high-grade sarcoma distinguishable from infantile fibrosarcoma and rhabdomyosarcoma. Hum Pathol 1993; 24 (7): 785–95. DOI: 10.1016/0046-8177(93)90017-b

18. Mosquera J.M., Sboner A., Zhang L., Kitabayashi N., Chen C.-L., Sung Y.-S., et al. Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma. Genes Chromosomes Cancer 2013; 52 (6): 538–50. DOI: 10.1002/gcc.22050

19. Alaggio R., Zhang L., Sung Y.-S., Huang S.-C., Chen C.-L., Bisogno G., et al. A Molecular study of pediatric spindle and sclerosing rhabdomyosarcoma: identification of novel and recurrent VGLL2-related fusions in infantile cases. Am J Surg Pathol 2016; 40 (2): 224–35. DOI: 10.1097/PAS.0000000000000538

20. Singh A.P., Gupta A.K., Jindal A., Mangal K. Retroperitoneal spindle cell variant of embryonal rhabdomyosarcoma in a child. Med J DY Patil Vidyapeeth 2019; 12 (2): 177–9. DOI: 10.4103/mjdrdypu.mjdrdypu_61_18

21. Incarbone M., Pastorino U. Surgical treatment of chest wall tumors. World J Surg 2001; 25 (2): 218–30. DOI: 10.1007/s002680020022

22. Crist W.M., Anderson J.R., Meza J.L., Fryer C., Raney R.B., Ruymann F.B., et al. Intergroup rhabdomyosarcoma study-IV: results for patients with nonmetastatic disease. J Clin Oncol 2001; 19 (12): 3091–102. DOI: 10.1200/JCO.2001.19.12.3091

23. Stevens M.C.G., Rey A., Bouvet N., Ellershaw C., Flamant F., Habrand J.L., et al. Treatment of nonmetastatic rhabdomyosarcoma in childhood and adolescence: third study of the International Society of Paediatric Oncology--SIOP Malignant Mesenchymal Tumor 89. J Clin Oncol 2005; 23 (12): 2618–28. DOI: 10.1200/JCO.2005.08.130

24. Pappo A.S., Anderson J.R., Crist W.M., Wharam M.D., Breitfeld P.P., Hawkins D., et al. Survival after relapse in children and adolescents with rhabdomyosarcoma: a report from the Intergroup Rhabdomyosarcoma Study Group. J Clin Oncol 1999; 17 (11): 3487–93. DOI: 10.1200/JCO.1999.17.11.3487

25. Wald O., Islam I., Amit K., Ehud R., Eldad E., Omer O., et al. 11-year experience with Chest Wall resection and reconstruction for primary Chest Wall sarcomas. J Cardiothorac Surg 2020; 15 (1): 29. DOI: 10.1186/s13019-020-1064-y

26. Sandler G., Hayes-Jordan A. Chest wall reconstruction after tumor resection. Semin Pediatr Surg 2018; 27 (3): 200–6. DOI: 10.1053/j.sempedsurg.2018.05.008

27. DeRosa G.P. Progressive scoliosis following chest wall resection in children. Spine (Phila Pa 1976) 1985; 10 (7): 618–22. DOI: 10.1097/00007632-198509000-00005

28. Kawakami N., Winter R.B., Lonstein J.E., Denis F. Scoliosis secondary to rib resection. J Spinal Disord 1994; 7 (6): 522–7.

29. Scalabre A., Parot R., Hameury F., Cunin V., Jouve J.-L., Chotel F. Prognostic risk factors for the development of scoliosis after chest wall resection for malignant tumors in children. J Bone Joint Surg Am 2014; 96 (2): e10. DOI: 10.2106/JBJS.L.01535

30. Chui C.H., Billups C.A., Pappo A.S., Rao B.N., Spunt S.L. Predictors of outcome in children and adolescents with rhabdomyosarcoma of the trunk the St Jude Children’s Research Hospital experience. J Pediatr Surg 2005; 40 (11): 1691–5. DOI: 10.1016/j.jpedsurg.2005.07.042

31. Guillén G., García L., Marhuenda C., Pellisé F., Molino J.A., Fontecha C.G., et al. Thoracic wall reconstruction with bioabsorbable plates in pediatric malignant thoracic wall tumors. J Pediatr Surg 2017; 52 (3): 377–81. DOI: 10.1016/j.jpedsurg.2016.08.018

32. Lin S.R., Kastenberg Z.J., Bruzoni M., Albanese C.T., Dutta S. Chest wall reconstruction using implantable cross-linked porcine dermal collagen matrix (Permacol). J Pediatr Surg 2012; 47 (7): 1472–5. DOI: 10.1016/j.jpedsurg.2012.05.002

33. Glotzbecker M.P., Gold M., Puder M., Hresko M.T. Scoliosis after chest wall resection. J Child Orthop 2013; 7 (4): 301–7. DOI: 10.1007/s11832-013-0519-2

Pediatric Hematology/Oncology and Immunopathology. 2023; 22: 134-143

Congenital chest wall spindle cell rhabdomyosarcoma in a one-month-old patient

Uskova N. G., Vystavkina N. A., Talypov S. R., Akhaladze D. G., Stradomskaya T. V., Roshchin V. Yu., Kachanov D. Yu., Grachev N. S.

https://doi.org/10.24287/1726-1708-2023-22-4-134-143

Abstract

This article presents a rare clinical case of an infant with congenital spindle-cell rhabdomyosarcoma, demonstrates a combined approach to the patient's therapy, describes in detail the performed reconstructive plastic surgery, analyzes the short-term and long-term results of the treatment with an emphasis on late orthopedic complications, provides a detailed literary review on the topic of the publication. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.

References

1. Mulita F., Parchas N., Germanos S., Papadoulas S., Maroulis I. Case report of a local recurrence of spindle cell embryonal rhabdomyosarcoma. Med Arch 2020; 74 (3): 240–2. DOI: 10.5455/medarh.2020.74.240-242

2. Saltsman J.A., Danzer E., Hammond W.J., Rhee D., Berhe S., Monteagudo J., et al. Survival and scoliosis following resection of chest wall tumors in children and adolescents: a single-center retrospective analysis. Ann Surg 2021; 274 (2): e167–73. DOI: 10.1097/SLA.0000000000003495

3. Soyer T., Karnak I., Ciftci A.O., Senocak M.E., Tanyel F.C., Büyükpamukcu N. The results of surgical treatment of chest wall tumors in childhood. Pediatr Surg Int 2006; 22 (2): 135–9. DOI: 10.1007/s00383-005-1537-z

4. Hayes-Jordan A., Stoner J.A., Anderson J.R., Rodeberg D., Weiner G., Meyer W.H., et al. The impact of surgical excision in chest wall rhabdomyosarcoma: a report from the Children’s Oncology Group. J Pediatr Surg 2008; 43 (5): 831–6. DOI: 10.1016/j.jpedsurg.2007.12.021

5. La Quaglia M.P. Chest wall tumors in childhood and adolescence. Semin Pediatr Surg 2008; 17 (3): 173–80. DOI: 10.1053/j.sempedsurg.2008.03.007

6. Lopez C., Correa A., Vaporciyan A., Austin M., Rice D., Hayes-Jordan A. Outcomes of chest wall resections in pediatric sarcoma patients. J Pediatr Surg 2017; 52 (1): 109–14. DOI: 10.1016/j.jpedsurg.2016.10.035

7. Gangopadhyay A., Nandy K., Puj K., Sharma M., Jayaprakash D., Salunke A., et al. Primary chest wall sarcoma; a single institution experience of 3 years. Cancer Treat Res Commun 2021; 27: 100326. DOI: 10.1016/j.ctarc.2021.100326

8. [Electronic resource] CWS-guidance. URL: https://fnkc.ru/fnkc/docs/CWS-2009.pdf. (accessed 22.01.2023).

9. Colletti M., Galardi A., Miele E., Di Paolo V., Russo I., De Stefanis C., et al. Establishment and characterization of a cell line (S-RMS1) derived from an infantile spindle cell rhabdomyosarcoma with SRF-NCOA2 fusion transcript. Int J Mol Sci 2021; 22 (11): 5484. DOI: 10.3390/ijms22115484

10. Russo I., Di Paolo V., Gurnari C., Mastronuzzi A., Del Bufalo F., Di Paolo P.L., et al. Congenital rhabdomyosarcoma: a different clinical presentation in two cases. BMC Pediatr 2018; 18: 166. DOI: 10.1186/s12887-018-1128-5

11. Siegel R.L., Miller K.D., Fuchs H.E., Jemal A. Cancer statistics, 2021. CA Cancer J Clin 2021; 71 (1): 7–33. DOI: 10.3322/caac.21654

12. Mentzel T., Kuhnen C. Spindle cell rhabdomyosarcoma in adults: clinicopathological and immunohistochemical analysis of seven new cases. Virchows Arch 2006; 449 (5): 554–60. DOI: 10.1007/s00428-006-0284-4

13. Nascimento A.F., Fletcher C.D.M. Spindle cell rhabdomyosarcoma in adults. Am J Surg Pathol 2005; 29 (8): 1106–13.

14. Fletcher C.D.M., Bridge J.A., Hogendoorn P.C.W., Mertens F. (eds.). WHO classification of tumours of soft tissue and bone. 4th ed., vol. 5. IARC; Lyon, France; 2013.

15. Dagher R., Helman L. Rhabdomyosarcoma: an overview. Oncologist 1999; 4 (1): 34–44.

16. Zhang J., Walsh M.F., Wu G., Edmonson M.N., Gruber T.A., Easton J., et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med 2015; 373 (24): 2336–46. DOI: 10.1056/NEJMoa1508054

17. Lundgren L., Angervall L., Stenman G., Kindblom L.G. Infantile rhabdomyofibrosarcoma: a high-grade sarcoma distinguishable from infantile fibrosarcoma and rhabdomyosarcoma. Hum Pathol 1993; 24 (7): 785–95. DOI: 10.1016/0046-8177(93)90017-b

18. Mosquera J.M., Sboner A., Zhang L., Kitabayashi N., Chen C.-L., Sung Y.-S., et al. Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma. Genes Chromosomes Cancer 2013; 52 (6): 538–50. DOI: 10.1002/gcc.22050

19. Alaggio R., Zhang L., Sung Y.-S., Huang S.-C., Chen C.-L., Bisogno G., et al. A Molecular study of pediatric spindle and sclerosing rhabdomyosarcoma: identification of novel and recurrent VGLL2-related fusions in infantile cases. Am J Surg Pathol 2016; 40 (2): 224–35. DOI: 10.1097/PAS.0000000000000538

20. Singh A.P., Gupta A.K., Jindal A., Mangal K. Retroperitoneal spindle cell variant of embryonal rhabdomyosarcoma in a child. Med J DY Patil Vidyapeeth 2019; 12 (2): 177–9. DOI: 10.4103/mjdrdypu.mjdrdypu_61_18

21. Incarbone M., Pastorino U. Surgical treatment of chest wall tumors. World J Surg 2001; 25 (2): 218–30. DOI: 10.1007/s002680020022

22. Crist W.M., Anderson J.R., Meza J.L., Fryer C., Raney R.B., Ruymann F.B., et al. Intergroup rhabdomyosarcoma study-IV: results for patients with nonmetastatic disease. J Clin Oncol 2001; 19 (12): 3091–102. DOI: 10.1200/JCO.2001.19.12.3091

23. Stevens M.C.G., Rey A., Bouvet N., Ellershaw C., Flamant F., Habrand J.L., et al. Treatment of nonmetastatic rhabdomyosarcoma in childhood and adolescence: third study of the International Society of Paediatric Oncology--SIOP Malignant Mesenchymal Tumor 89. J Clin Oncol 2005; 23 (12): 2618–28. DOI: 10.1200/JCO.2005.08.130

24. Pappo A.S., Anderson J.R., Crist W.M., Wharam M.D., Breitfeld P.P., Hawkins D., et al. Survival after relapse in children and adolescents with rhabdomyosarcoma: a report from the Intergroup Rhabdomyosarcoma Study Group. J Clin Oncol 1999; 17 (11): 3487–93. DOI: 10.1200/JCO.1999.17.11.3487

25. Wald O., Islam I., Amit K., Ehud R., Eldad E., Omer O., et al. 11-year experience with Chest Wall resection and reconstruction for primary Chest Wall sarcomas. J Cardiothorac Surg 2020; 15 (1): 29. DOI: 10.1186/s13019-020-1064-y

26. Sandler G., Hayes-Jordan A. Chest wall reconstruction after tumor resection. Semin Pediatr Surg 2018; 27 (3): 200–6. DOI: 10.1053/j.sempedsurg.2018.05.008

27. DeRosa G.P. Progressive scoliosis following chest wall resection in children. Spine (Phila Pa 1976) 1985; 10 (7): 618–22. DOI: 10.1097/00007632-198509000-00005

28. Kawakami N., Winter R.B., Lonstein J.E., Denis F. Scoliosis secondary to rib resection. J Spinal Disord 1994; 7 (6): 522–7.

29. Scalabre A., Parot R., Hameury F., Cunin V., Jouve J.-L., Chotel F. Prognostic risk factors for the development of scoliosis after chest wall resection for malignant tumors in children. J Bone Joint Surg Am 2014; 96 (2): e10. DOI: 10.2106/JBJS.L.01535

30. Chui C.H., Billups C.A., Pappo A.S., Rao B.N., Spunt S.L. Predictors of outcome in children and adolescents with rhabdomyosarcoma of the trunk the St Jude Children’s Research Hospital experience. J Pediatr Surg 2005; 40 (11): 1691–5. DOI: 10.1016/j.jpedsurg.2005.07.042

31. Guillén G., García L., Marhuenda C., Pellisé F., Molino J.A., Fontecha C.G., et al. Thoracic wall reconstruction with bioabsorbable plates in pediatric malignant thoracic wall tumors. J Pediatr Surg 2017; 52 (3): 377–81. DOI: 10.1016/j.jpedsurg.2016.08.018

32. Lin S.R., Kastenberg Z.J., Bruzoni M., Albanese C.T., Dutta S. Chest wall reconstruction using implantable cross-linked porcine dermal collagen matrix (Permacol). J Pediatr Surg 2012; 47 (7): 1472–5. DOI: 10.1016/j.jpedsurg.2012.05.002

33. Glotzbecker M.P., Gold M., Puder M., Hresko M.T. Scoliosis after chest wall resection. J Child Orthop 2013; 7 (4): 301–7. DOI: 10.1007/s11832-013-0519-2