Rhabdomyosarcoma (RMS) is a rare type of cancer that originates in the skeletal muscle cells. It's most commonly found in children but can occur at any age. The cancer is characterized by the presence of cells that resemble immature muscle cells, and it can grow and spread rapidly.

Rhabdomyosarcoma (RMS) is a rare cancer that originates in skeletal muscle cells and can be found in various parts of the body, including the head and neck, genitourinary tract, extremities, and other less common areas such as the trunk and retroperitoneum. Bone marrow infiltration in Rhabdomyosarcoma (RMS) is a relatively rare occurrence. We are presenting a case Rhabdomyosarcoma with Bone Marrow Involvement and cervical Mass.

A 17-year-old female patient with no known previous illnesses presented to an external center with complaints of coughing, difficulty swallowing, weight loss, and fatigue that had begun a month prior. During a physical examination, a 2 cm mass was observed in the left cervical region, along with an enlarged appearance of the thyroid gland. Complete blood count revealed hemoglobin at 10.6 g/dL, leukocytes at 1000 mm3, neutrophils at 200 mm3, and platelets at 70000 mm3, leading to a referral to a hematology clinic. Upon repeated observation of pancytopenia, early myeloid precursors were seen in a peripheral smear. Due to a high suspicion of lymphoma, a bone marrow biopsy was performed, revealing widespread mononuclear cell infiltration. Immunohistochemical analysis showed desmin(+), myogenin(+), and Ki67 80% positivity, leading to a diagnosis of rhabdomyosarcoma. A PET-CT scan to determine the extent of the disease revealed multiple involvements in the bone and lungs. Treatment with Vincristine, doxorubicin, cyclophosphamide, and dexamethasone was initiated, resulting in a significant regression of the masses and an improvement in the cytopenia picture.

The presence of RMS in the bone marrow can complicate both the diagnosis and treatment of the disease. It may require additional diagnostic procedures, such as bone marrow biopsy, to confirm the presence of RMS cells. Treatment may also need to be more aggressive, approaches. Bone marrow involvement in RMS is considered a more advanced stage of the disease and may be associated with a more challenging prognosis. Early detection and tailored treatment are crucial for managing RMS with bone marrow infiltration.