Metastatic Alveolar Rhabdomyosarcoma with Occult Primary Tumor in an Adult: A Case Revealed by Trephine Biopsy


Authors : Dr. Thounaojam Joytamala Devi; Dr. Rajeshwari.S. Handigund; Dr. Rohan Bhise

Volume/Issue : Volume 10 - 2025, Issue 3 - March


Google Scholar : https://tinyurl.com/5n8r32fs

Scribd : https://tinyurl.com/395da7t4

DOI : https://doi.org/10.38124/ijisrt/25mar1530

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Abstract : Introduction: Rhabdomyosarcoma (RMS) is a malignant tumor, commonly seen in children and adolescents but rare in adults. In children, RMS present in the head and neck, genitourinary tract, or extremities, while in adults, it mostly occurs in the extremities, rarely in head and neck region.  Case Details: A 60-year-old man, with Type2 diabetes mellitus and Alveolar rhabdomyosarcoma (ARMS) with unknown primary under chemotherapy since1 year, came with the complaints of fever, generalised weakness since 1 month. Complete blood count showed Pancytopenia with Haemoglobin - 6.9 g/dl, Total leucocyte count - 2.4x106 /μL, Platelet count - 53x103 /μL. PET- SCAN revealed increase FDG uptake in axial and appendicular skeletal marrow. Bone marrow study showed suppression of trilineage haematopoiesis with 80% atypical elongated cells with hyperchromatic nuclei and abundant eosinophilic cytoplasm, favouring rhabdomyosarcoma cells with focal areas of necrosis. Patient continued chemotherapy with blood transfusions and on regular follow-up.  Conclusion: ARMS is characterized by aggressiveness and metastatic tendencies. It spreads to lungs, bone marrow, liver and brain. This case highlights a rare case of ARMS with occult primary metastasis in the lymph node and bone marrow, making hematopathological analysis essential for diagnosis and understanding disease progression.

Keywords : Bone Marrow Metastasis, Rhabdomyosarcoma, Alveolar Rhabdomyosarcoma, Haematopathology.

References :

  1. Meza JL, Anderson J, Pappo AS, Meyer WH. Analysis of prognostic factors in patients with nonmetastatic rhabdomyosarcoma treated on intergroup rhabdomyosarcoma studies III and IV: The Children’s Oncology Group. J Clin Oncol. 2006;24(24):3844–51
  2. Meyer WH, Spunt SL. Soft tissue sarcomas of childhood. Cancer Treat Rev. 2004; 30(3): 269–80.
  3. Yassir H, Ngham H, Lyoubi M, Abada RA, Oukessou Y, Roubal M, et al. Alveolar rhabdomyosarcoma of the mandible in an adult invading the parotid gland: a rare case report. Int J Surg Case Rep. 2020; 77: 848–52.
  4. Stepan K, Konuthula N, Khan M, Parasher A, Del Signore A, Govindaraj S, et al. Outcomes in adult sinonasal rhabdomyosarcoma. Otolaryngol Head Neck Surg. 2017; 157(1): 135–41.
  5. Sorensen PH, Lynch JC, Qualman SJ, Tirabosco R, Lim JF, Maurer HM, et al. PAX3-FKHR and PAX7-FKHR gene fusions are prognostic indicators in alveolar rhabdomyosarcoma: a report from The Children’s Oncology Group. J Clin Oncol. 2002;20(11):2672–9
  6. Weiss AR, Lyden ER, Anderson JR, et al.: Histologic and clinical characteristics can guide staging evaluations for children and adolescents with rhabdomyosarcoma: a report from the Children's Oncology Group Soft Tissue Sarcoma Committee. J Clin Oncol. 2013, 31:3226-32. 10.1200/JCO.2012.44.6476)
  7. Raney RB, Maurer HM, Anderson JR, Andrassy RJ, Donaldson SS, Qualman SJ, et al. The Intergroup Rhabdomyosarcoma Study Group (IRSG): major lessons from the IRS-I through IRS-IV Studies as background for the current IRS-V treatment protocols. Sarcoma. 2001; 5(1): 9–15.
  8. Manasa Dondapati, Vincent J, Ahmad S, Stern AS, Lieber JJ. Rare Adult Subtype of Rhabdomyosarcoma, a Common Childhood Soft Tissue Carcinoma. Journal of Investigative Medicine High Impact Case Reports. 2021 Jan 1;9:232470962110422-232470962110422.
  9. Karagiannis P, Guth N, Thoennissen GB, Bern C, Sperveslage J, Ilske Oschlies, et al. Alveolar rhabdomyosarcoma confined to the bone marrow with no identifiable primary tumour using FDG-PET/CT. Clinical Sarcoma Research. 2015 Nov 18;5(1).
  10. Cheng JJ, Mott RT, Savage PD, Paluri RK. Metastatic Alveolar Rhabdomyosarcoma with Extensive Bone Marrow Replacement in an Older Adult. Case Reports in Oncology. 2021 Oct 21;14(3):1505–10.

Introduction: Rhabdomyosarcoma (RMS) is a malignant tumor, commonly seen in children and adolescents but rare in adults. In children, RMS present in the head and neck, genitourinary tract, or extremities, while in adults, it mostly occurs in the extremities, rarely in head and neck region.  Case Details: A 60-year-old man, with Type2 diabetes mellitus and Alveolar rhabdomyosarcoma (ARMS) with unknown primary under chemotherapy since1 year, came with the complaints of fever, generalised weakness since 1 month. Complete blood count showed Pancytopenia with Haemoglobin - 6.9 g/dl, Total leucocyte count - 2.4x106 /μL, Platelet count - 53x103 /μL. PET- SCAN revealed increase FDG uptake in axial and appendicular skeletal marrow. Bone marrow study showed suppression of trilineage haematopoiesis with 80% atypical elongated cells with hyperchromatic nuclei and abundant eosinophilic cytoplasm, favouring rhabdomyosarcoma cells with focal areas of necrosis. Patient continued chemotherapy with blood transfusions and on regular follow-up.  Conclusion: ARMS is characterized by aggressiveness and metastatic tendencies. It spreads to lungs, bone marrow, liver and brain. This case highlights a rare case of ARMS with occult primary metastasis in the lymph node and bone marrow, making hematopathological analysis essential for diagnosis and understanding disease progression.

Keywords : Bone Marrow Metastasis, Rhabdomyosarcoma, Alveolar Rhabdomyosarcoma, Haematopathology.

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