Rhabdomyosarcoma presenting with diffuse bone marrow involvement, hypercalcemia and renal failure

Abstract

Rhabdomyosarcoma and other small round-cell neoplasms of infancy and childhood frequently involve the bone marrow. An unusual clinical presentation of diffuse bone marrow involvement as the sole manifestation of the disease represents a difficult diagnostic challenge. We report the case of an 18-year-old boy presenting with lower back pain, sternum tenderness, anemia, thrombocytopenia, leukoerythroblastic blood film, hypercalcemia, and renal failure. No solid tumor was found. A diagnosis of rhabdomyoblastic bone marrow metastatic involvement was initially suggested by the morphological picture, and later confirmed by the ultrastructural findings. Hypercalcemia and renal failure were controlled, initially, with furosemide and calcitonin. The patient was treated with intensive chemotherapy, including vincristine, actinomycin D, cyclophosphamide, and doxorubicin. A remission was achieved, lasting 5 months until relapse.

Rhabdomyosarcoma with unknown primary tumor site: A report from European pediatric Soft tissue sarcoma Study Group (EpSSG)

“…The poor prognosis of this group of patients is confirmed by a review of the medical literature. We found 16 publications (from 1976 to the present) describing 22 cases of children with RMS and an unknown primary tumor site 3–18 . The characteristics of these patients are summarized in Table 2.…”

“…We found 16 publications (from 1976 to the present) describing 22 cases of children with RMS and an unknown primary tumor site. [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18] The characteristics of these patients are summarized in Table 2. As in our series, this condition seemed to be more typical of the fusion-positive alveolar subtype of RMS, and occurred mainly in adolescents.…”

“…In a few cases, patients present with disseminated disease, but no evidence of a primary tumor mass, sometimes mimicking other cancers such as acute lymphoblastic leukemia. These cases of RMS with unknown primary tumor site have rarely been investigated, and only a few series and case reports are available in the literature 3–18 . A pooled North American–European analysis on metastatic RMS patients included 12 patients with no evident primary tumor site, whose 3‐year event‐free survival (EFS) was reportedly 8% 2 …”

“…These cases of RMS with unknown primary tumor site have rarely been investigated, and only a few series and case reports are available in the literature. [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18] A pooled North American-European analysis on metastatic RMS patients included 12 patients with no evident primary tumor site, whose 3-year event-free survival (EFS) was reportedly 8%. 2 To contribute further information on this rare condition, we report a series of patients with metastatic RMS with unknown primary tumor site registered in the Metastatic (MTS) 2008 protocol coordinated by the European pediatric Soft tissue sarcoma Study Group (EpSSG).…”