Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2025; 24: 175-180
CIC-перестроенная саркома, мимикрирующая под псевдоопухоль, у пациента с гемофилией А
https://doi.org/10.24287/1726-1708-2025-24-1-175-180Аннотация
Развитие псевдоопухоли является редким осложнением у пациентов с гемофилией, которое встречается в 1–2% случаев и является следствием хронической мышечной гематомы. Мы представляем описание клинического случая ребенка, страдающего гемофилией А, поступившего с образованием предплечья, трактуемым как псевдоопухоль. Однако при гистологическом исследовании образования выявлена высокозлокачественная редкая опухоль – СIC-перестроенная саркома. Родители пациента дали согласие на использование информации, в том числе фотографий ребенка, в научных исследованиях и публикациях.
Список литературы
1. Ahlberg A.K. On the natural history of hemophilic pseudotumor. J Bone Joint Surg 1975; 57 (8): 1133–6.
2. De la Corte-Rodriguez H., Rodriguez-Merchan EC. Treatment of muscle haematomas in haemophiliacs with special emphasis on percutaneous drainage. Blood Coagul Fibrinolysis 2014; 25 (8): 787–94. DOI: 10.1097/MBC.0000000000000159
3. He Y., Zhou X., Cui H., Qiu G., Weng X., Zhang B., et al. Surgical Management of Haemophilic Pseudotumors: Experience in a Developing Country. J Investigative Surg 2019; 32 (2): 127–36. DOI: 10.1080/08941939.2017.1386737
4. Allen S., Reeder C.B., Kransdorf M.J., Beauchamp C.P., Zarka M.A., Mookadam F. Hemophilic pseudotumor in a non-hemophilic patient treated with a hybrid procedure of preoperative embolization of the feeding arteries followed by surgical resection-A case report. Int J Surg Case Rep 2016; 27:165–8. DOI: 10.1016/j.ijscr.2016.08.032
5. Thomas B.P., Fouzia N.A., Raveendran S., Pallapati S.R., Abraham A., Srivastava A. Management of Hemophilic Cysts and Pseudotumors of the Hand in Bleeding Disorders: A Case Series. J Hand Surg Am 2018; 43 (5): 486.e1–9. DOI: 10.1016/j.jhsa.2017.10.035
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7. Allen D.J., Goddard N.J., Mann H.A., Rodriguez-Merchan E.C. Primary malignancies mistaken for pseudotumours in haemophilic patients. Haemophilia 2007; 13 (4): 383–6.
8. Naito N., Ozaki T., Kunisada T., Kawai A., Danúra T. Morimoto Y. Synovial sarcoma with a large hematoma in the inguinal region. Arch Orthop Trauma Surg 2000; 120 (9): 533–4. DOI: 10.1007/s004029900109
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10. Imaizumi S., Morita T., Ogose A., Hotta T., Kobayashi H., Ito T., Hirata Y., et al. Soft tissue sarcoma mimicking chronic hematoma: value of magnetic resonance imaging in differential diagnosis. J Orthop Sci 2002; 7 (1): 33–7. DOI: 10.1007/s776-002-8410-5
11. Феоктистова Е.В., Ускова Н.Г., Варфоломеева С.Р., Терещенко Г.В., Качанов Д.Ю., Шаманская Т.В. и др. Дифференциальная диагностика кистозной формы нейробластомы и кровоизлияния в надпочечник у детей первых месяцев жизни. Вопросы гематологии/онкологии и иммунопатологии в педиатрии 2017; 16 (1): 62–8. DOI: 10.24287/1726-1708-2017-16-1-62-68
12. Kamal A.F., Waryudi A., Kurniawan A., Lubis A.M., Gatot D. Various Surgical Treatment of Hemophilic Pseudotumor: A Case Series. Arch Bone Jt Surg 2019; 7 (6): 514–22.
13. Rodriguez-Merchan E.C., Goddard N.J. Muscular bleeding, haematomas, and pseudotumours. In: Rodriguez-Merchan E.C., Goddard N.J., Lee C.A. (eds.). Musculoskeletal aspects of hemophilia. Oxford: Blackwell Science; 2000. Pp. 85–90.
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15. Magallon M., Monteagudo J., Altisent C., Ibanez A., RodriguezPerez A., Riba J., et al. Hemophilic pseudotumor: multicenter experience over a 25-year period. Am J Hematol 1994; 45 (2): 103–8. DOI: 10.1177/230949901402200232
16. Franchini M. Haemophilia and Cancer: A Personal Perspective. Blood Transfus 2013; 11: 26. DOI: 10.2450/2012.0149-11
17. Darby S.C., Kan S.W., Spooner R.J., Giangrande P.L.F., Hill F.G.H., Hay C.R.M., et al. Haemophilia Centre Doctors’ Organisation Mortality Rates, Life Expectancy, and Causes of Death in People with Hemophilia A or B in the United Kingdom Who Were Not Infected with HIV. Blood 2007; 110: 815–25. DOI: 10.1182/blood-2006-10-050435
18. Tagliaferri A., Di Perna C., Santoro C., Schinco P., Santoro R., Rossetti G., et al. Cancers in Patients with Hemophilia: A Retrospective Study from the Italian Association of Hemophilia Centers. J Thromb Haemost 2012; 10: 90–5. DOI: 10.1111/j.1538-7836.2011.04566.x
19. Malempati S., Hawkins D.S. Rhabdomyosarcoma: review of the Children's Oncology Group (COG) Soft-Tissue Sarcoma Committee experience and rationale for current COG studies. Pediatr Blood Cancer 2012; 59 (1): 5–10. DOI: 10.1002/pbc.24118
20. Connolly E.A., Bhadri V.A., Wake J., Ingley K.M., Lewin J., Bae S., et al. Systemic treatments and outcomes in CIC-rearranged Sarcoma: A national multi-centre clinicopathological series and literature review. Cancer Med 2022; 11 (8): 1805–16. DOI: 10.1002/cam4.4580
21. Antonescu C.R., Owosho A.A., Zhang L., Chen S., Daniz K., Huryn J.M., et al. Sarcomas with CIC-rearrangements are a Distinct Pathologic Entity with Aggressive Outcome: A Clinicopathologic and Molecular Study of 115 Cases. Am J Surg Pathol 2017; 41 (7): 941–9. DOI: 10.1097/PAS.0000000000000846
22. Renzi S., Anderson N., Light N., Gupta A. Ewing‐like sarcoma: An emerging family of round cell Sarcomas. J Cell Physiol 2019; 234 (6): 7999–8007. DOI: 10.1002/jcp.27558
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24. Kerr R. Imaging of musculoskeletal complications of hemophilia. Semin Musculoskelet Radiol 2003; 7 (2): 127–36. DOI: 10.1055/s-2003-41346
25. Maclachlan J., Gough-Palmer A., Hargunani R., Farrant J., Holloway B. Haemophilia imaging: a review. Skelet Radiol 2009; 38 (10): 949–57. DOI: 10.1007/s00256-008-0586-5
26. Espandar R., Heidari P., Rodriguez-Merchan E.C. Management of haemophilic pseudotumours with special emphasis on radiotherapy and arterial embolization. Haemophilia 2009; 15 (2): 448–57. DOI: 10.1111/j.1365-2516.2008.01942.x
27. Keller A., Terrier F., Schneider P.A., Bianchi S., Howarth N., De Moerloose P. Pelvic hemophilic pseudotumor: management of a patient with high level of inhibitors. Skeletal Radiol 2002; 31 (5): 550–3. DOI: 10.1007/s00256-002-0518-8
28. Rodriguez-Merchan E.C. What´s new in orthopedic surgery for people with hemophilia. Arch Bone J Surg 2018; 6 (3): 157–60.
Pediatric Hematology/Oncology and Immunopathology. 2025; 24: 175-180
CIC-rearranged sarcoma mimicking pseudotumor in a patient with hemophilia A
https://doi.org/10.24287/1726-1708-2025-24-1-175-180Abstract
Hemophilic pseudotumor is a rare complication occurring in 1–2% of cases and resulting from a recurrent chronic muscle hematoma. We describe a clinical case of a child suffering from hemophilia type A who was admitted with a forearm mass, interpreted as a pseudotumor. However, histological examination of the mass revealed a rare aggressive CIC-rearranged sarcoma. The patient's parents gave consent to the use of their child's data, including photographs, for research purposes and in publications.
References
1. Ahlberg A.K. On the natural history of hemophilic pseudotumor. J Bone Joint Surg 1975; 57 (8): 1133–6.
2. De la Corte-Rodriguez H., Rodriguez-Merchan EC. Treatment of muscle haematomas in haemophiliacs with special emphasis on percutaneous drainage. Blood Coagul Fibrinolysis 2014; 25 (8): 787–94. DOI: 10.1097/MBC.0000000000000159
3. He Y., Zhou X., Cui H., Qiu G., Weng X., Zhang B., et al. Surgical Management of Haemophilic Pseudotumors: Experience in a Developing Country. J Investigative Surg 2019; 32 (2): 127–36. DOI: 10.1080/08941939.2017.1386737
4. Allen S., Reeder C.B., Kransdorf M.J., Beauchamp C.P., Zarka M.A., Mookadam F. Hemophilic pseudotumor in a non-hemophilic patient treated with a hybrid procedure of preoperative embolization of the feeding arteries followed by surgical resection-A case report. Int J Surg Case Rep 2016; 27:165–8. DOI: 10.1016/j.ijscr.2016.08.032
5. Thomas B.P., Fouzia N.A., Raveendran S., Pallapati S.R., Abraham A., Srivastava A. Management of Hemophilic Cysts and Pseudotumors of the Hand in Bleeding Disorders: A Case Series. J Hand Surg Am 2018; 43 (5): 486.e1–9. DOI: 10.1016/j.jhsa.2017.10.035
6. Mann H.A., Hilton A., Goddard N.J., Smith M.A., Holloway B., Lee C.A. Synovial sarcoma mimicking haemophilic pseudotumour. Sarcoma 2006; 2006: 27212. DOI: 10.1155/sRCM/2006/27212
7. Allen D.J., Goddard N.J., Mann H.A., Rodriguez-Merchan E.C. Primary malignancies mistaken for pseudotumours in haemophilic patients. Haemophilia 2007; 13 (4): 383–6.
8. Naito N., Ozaki T., Kunisada T., Kawai A., Danúra T. Morimoto Y. Synovial sarcoma with a large hematoma in the inguinal region. Arch Orthop Trauma Surg 2000; 120 (9): 533–4. DOI: 10.1007/s004029900109
9. Ogose A., Hotta T., Yamamura S., Shioya Y., Yazawa T. Extraskeletal Ewing's sarcoma mimicking traumatic hematoma. Arch Orthop Trauma Surg 1998; 118 (3): 172–3. DOI: 10.1007/s004020050341
10. Imaizumi S., Morita T., Ogose A., Hotta T., Kobayashi H., Ito T., Hirata Y., et al. Soft tissue sarcoma mimicking chronic hematoma: value of magnetic resonance imaging in differential diagnosis. J Orthop Sci 2002; 7 (1): 33–7. DOI: 10.1007/s776-002-8410-5
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15. Magallon M., Monteagudo J., Altisent C., Ibanez A., RodriguezPerez A., Riba J., et al. Hemophilic pseudotumor: multicenter experience over a 25-year period. Am J Hematol 1994; 45 (2): 103–8. DOI: 10.1177/230949901402200232
16. Franchini M. Haemophilia and Cancer: A Personal Perspective. Blood Transfus 2013; 11: 26. DOI: 10.2450/2012.0149-11
17. Darby S.C., Kan S.W., Spooner R.J., Giangrande P.L.F., Hill F.G.H., Hay C.R.M., et al. Haemophilia Centre Doctors’ Organisation Mortality Rates, Life Expectancy, and Causes of Death in People with Hemophilia A or B in the United Kingdom Who Were Not Infected with HIV. Blood 2007; 110: 815–25. DOI: 10.1182/blood-2006-10-050435
18. Tagliaferri A., Di Perna C., Santoro C., Schinco P., Santoro R., Rossetti G., et al. Cancers in Patients with Hemophilia: A Retrospective Study from the Italian Association of Hemophilia Centers. J Thromb Haemost 2012; 10: 90–5. DOI: 10.1111/j.1538-7836.2011.04566.x
19. Malempati S., Hawkins D.S. Rhabdomyosarcoma: review of the Children's Oncology Group (COG) Soft-Tissue Sarcoma Committee experience and rationale for current COG studies. Pediatr Blood Cancer 2012; 59 (1): 5–10. DOI: 10.1002/pbc.24118
20. Connolly E.A., Bhadri V.A., Wake J., Ingley K.M., Lewin J., Bae S., et al. Systemic treatments and outcomes in CIC-rearranged Sarcoma: A national multi-centre clinicopathological series and literature review. Cancer Med 2022; 11 (8): 1805–16. DOI: 10.1002/cam4.4580
21. Antonescu C.R., Owosho A.A., Zhang L., Chen S., Daniz K., Huryn J.M., et al. Sarcomas with CIC-rearrangements are a Distinct Pathologic Entity with Aggressive Outcome: A Clinicopathologic and Molecular Study of 115 Cases. Am J Surg Pathol 2017; 41 (7): 941–9. DOI: 10.1097/PAS.0000000000000846
22. Renzi S., Anderson N., Light N., Gupta A. Ewing‐like sarcoma: An emerging family of round cell Sarcomas. J Cell Physiol 2019; 234 (6): 7999–8007. DOI: 10.1002/jcp.27558
23. Rumyantsev A.G., Varfolomeeva S.R., Grachev N.S., Karachunskii A.I., Novichkova G.A. Printsipy i instrumenty dokazatel'noi meditsiny v detskoi gematologii/ onkologii. Doktor.Ru 2015; 10 (111): 6–13.
24. Kerr R. Imaging of musculoskeletal complications of hemophilia. Semin Musculoskelet Radiol 2003; 7 (2): 127–36. DOI: 10.1055/s-2003-41346
25. Maclachlan J., Gough-Palmer A., Hargunani R., Farrant J., Holloway B. Haemophilia imaging: a review. Skelet Radiol 2009; 38 (10): 949–57. DOI: 10.1007/s00256-008-0586-5
26. Espandar R., Heidari P., Rodriguez-Merchan E.C. Management of haemophilic pseudotumours with special emphasis on radiotherapy and arterial embolization. Haemophilia 2009; 15 (2): 448–57. DOI: 10.1111/j.1365-2516.2008.01942.x
27. Keller A., Terrier F., Schneider P.A., Bianchi S., Howarth N., De Moerloose P. Pelvic hemophilic pseudotumor: management of a patient with high level of inhibitors. Skeletal Radiol 2002; 31 (5): 550–3. DOI: 10.1007/s00256-002-0518-8
28. Rodriguez-Merchan E.C. What´s new in orthopedic surgery for people with hemophilia. Arch Bone J Surg 2018; 6 (3): 157–60.
