Alveolar rhabdomyosarcoma confined to the bone marrow with no identifiable primary tumour using FDG-PET/CT (original) (raw)
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Journal of Clinical Pathology, 1992
Aims: To describe the histological appearances of bone marrow infiltrated with rhabdomyosarcoma at presentation and to determine their value in establishing the diagnosis. Methods: Patients presenting over seven years in the northern health region of England with rhabdomysarcoma were studied. Bone marrow aspirates and trephine biopsy specimens taken at presentation were examined. Results: Seven of 32 patients with rhabdomyosarcoma had bone marrow infiltration, resulting in marrow failure in all cases, at diagnosis. The diagnosis was established in these seven by the typical cytological appearances and immunophenotype of the infiltrating cells (all seven patients) and cytogenetic abnormalities (three patients). Histological examination ofthe bone marrow showed a pseudoalveolar pattern with fibrous septal bands, enlarged vascular channels, and lack of cohesion of the tumour cells within the subdivided aggregates in all seven. In four cases multinucleate giant cells, often with peripherally sited nuclei, were found. Conclusions: These histological features
Massive bone marrow involvement by clear cell variant of rhabdomyosarcoma
Indian Journal of Pediatrics, 2009
A 16-year-old boy with generalized myalgia and petechial hemorrhage was found to have a diffuse infiltrative disease in his bone marrow (BM). The BM aspirate contained a dense population of vacuolated blast-like cells. The BM biopsy displayed compact sheets of small round cells with clear cytoplasm, reminiscent of Ewing sarcoma. Immunostains were not diagnostically conclusive while transmission electron microscopy on the BM cells demonstrated a clear skeletal muscle differentiation. The morphologic findings led to a tentative designation of metastatic embryonal rhabdomyosarcoma (RMS). It was not until cytogenetic analysis revealed the specific translocation t(2;13)(q35;q14) did the alveolar RMS finally get confirmed. Despite an exhaustive search by imaging studies, a primary tumor was not detected. This case illustrates that the massive BM involvement by atypical alveolar RMS of unknown origin may pose serious diagnostic challenges. Multidisciplinary studies are required to reach a definitive diagnosis
European Journal of Cancer, 2005
Identification of patients with a poor prognosis for non-metastatic rhabdomyosarcoma (RMS) remains a clinical challenge. Prospective analysis for the presence of disseminated RMS cells in bone marrow at diagnosis, using immunocytochemistry, with MyoD1 and myogenin as markers, was carried out. Thirty-seven patients treated on RMS88 and RMS96 Italian protocols underwent staging investigations, and in addition marrow examination for occult tumour cells. All patients had negative marrow involvement using cytomorphology, but 10/37 were positive with immunostaining. With a median follow-up of 46 months (range, 12-115), 7 patients had died and 30 were disease-free. Overall survival probability was 92% in patients with no occult marrow infiltration, 47% with occult marrow infiltration (P = 0.001); event-free survival probability was 89% in the former and 50% in the latter (P = 0.01). Disseminated tumour cells are indicative of disease spread and are significantly linked to recurrence at distant sites and poorer outcome. Marrow examination at diagnosis using immunocytochemistry may be an additional tool to modulate treatment.
Alveolar Rhabdomyosarcoma in a 68-Year-Old Patient Identified by Cytogenetic Analysis of Bone Marrow
Cancer Genetics and Cytogenetics, 1998
Pancytopenia and fulminant disseminated intravascular coagulation in a 68-year-old woman suggested an acute hematologic malignancy. However, cytogenetic analysis on a bone marrow sample revealed a near-tetraploid karyotype with an isochromosome 1q and a translocation (2;13) (q35;q14), which was suggestive of an alveolar rhabdomyosarcoma (ARMS). This diagnosis was subsequently confirmed by indirect immunohistochemistry. ARMS has not yet been observed in a patient of this age. Thus, our case underlines the importance of cytogenetics, to establish an a priori unexpected tumor diagnosis. © Elsevier Science Inc.
Pediatric Hematology-Oncology, 1992
(RMS) is a highly malignant soft tissue sarcoma that occurs primarily in childhood, with a high incidence in children under 10 years of age. Approximately 6% to 16% of patients with RMS have bone marrow involvement at presentation.'" There are only a few published descriptions of karyotypes from human RMS; most concern alveolar RMS.3-7 We report a child diagnosed as alveolar RMS, demonstrating pseudorosette formation and erythrophagocytosis in bone marrow aspiration, with chromosomal aberration (such as translocation [2; 131) plus double minute chromosomes in chromosomal analysis. CASE REPORT A 3-year-old white girl was admitted to our hospital with difficulty in closing the right eye, a shift to the left of her lips, and gait disturbance. She had a mass in the right auditory canal and a solitary mass of 4 X 4 cm in diameter at the postero-lateral side of the left foot. She was also found to have
High-Dose Chemotherapy with Blood or Bone Marrow Transplants for Rhabdomyosarcoma
Biology of Blood and Marrow Transplantation, 2010
Rhabdomyosarcoma (RMS), the most common soft-tissue sarcoma in children, is cured with conventional therapy in 70%. However, the 5-year survival for those who relapse is about 30%, and drops to about 15% for those with unfavorable histologies (alveolar/undifferentiated subtypes). We describe outcomes of 62 subjects receiving autologous blood/bone marrow (BM) transplants for RMS between 1989 and 2003, and reported to the Center for International Blood and Marrow Transplantation Research (CIBMTR). Histologic subtype was confirmed by reviewing pathology reports. Treatment-related mortality (TRM), progression-free survival (PFS), and overall survival (OS) were evaluated. Overall, 73% of subjects were \20 years; 39% had cancer bulk .5 cm, 63% had metastasis at diagnosis, 55% had unfavorable histologies, 92% had cancer responsive to chemotherapy pretransplant, and 67% were in first remission. The 1-year TRM was 5% (95% confidence interval [CI], 1%-12%) and the 5-year PFS and OS were 29% (95% CI, 18%-41%) and 32% (95% CI, 21%-44%), respectively. There was only a 4% relapse rate after the first year. There were no differences in 5-year PFS or survival based on histological subtype, transplant in first remission versus relapse (36% versus 29%; P 5.5), or transplantation for poor-risk histologies in first remission versus relapse (34% versus 33%; P 5.9). Our data indicate that autotransplants for RMS disease are typically done in patients with disease responsive to chemotherapy pretransplant, with approximately one-third long-term survivors. Despite high-risk factors, we also found a low TRM, perhaps reflecting the migration from marrow to blood stem cells as the graft source. Even when performed after relapse for alveolar/undifferentiated histologies, long-term survivals were seen seemingly better than results with conventional therapies.
Imaging Features of Primary and Secondary Adult Rhabdomyosarcoma
American Journal of Roentgenology, 2012
habdomyosarcoma is a malignant neoplasm of striated muscle or its precursor mesenchymal cells [1] that occurs rarely in adults, constituting only 3% of all soft-tissue sarcomas in adults [2-4]. However, rhabdomyosarcoma is the most common soft-tissue sarcoma in children, representing more than 50% of childhood soft-tissue sarcomas, with 72-81% of patients younger than 10 years [2-5]. The aim of this article is to show the multimodality imaging appearance of primary and metastatic adult rhabdomyosarcoma in our experience at a tertiary cancer center. Pathology, Clinical Features, and Prognosis of Adult Rhabdomyosarcoma Histologically, rhabdomyosarcoma is overall subclassified into embryonal (with uncommon variants such as botryoid and spindle cell), alveolar, and pleomorphic types, whereas occasional cases cannot be subclassified (not otherwise specified [NOS]) [6]. In the entire population, embryonal rhabdomyosarcoma is the most common subtype (49%), followed by alveolar rhabdomyosarcoma (30%). Embryonal and alveolar subtypes are predominantly seen in childhood [5], whereas typical adult subtypes include pleomorphic, spindle cell, and sclerosing variants, although embryonal and alveolar rhabdomyosarcoma can also be seen [7] (Table 1). One series reported that embryonal, alveolar, pleomorphic, and NOS subtypes of adult rhabdomyosarcoma represent 32%, 32%, 23%,
Primary alveolar rhabdomyosarcoma of the bone: two cases and review of the literature
Diagnostic Pathology, 2016
Background: Rhabdomyosarcoma (RMS) is a malignant tumor of mesenchymal origin and comprises the largest category of soft-tissue sarcomas both in children and adolescents. From a pediatric oncology point of view, RMS has traditionally been classified into alveolar (ARMS) and embryonal (ERMS) subtypes. The anatomical localization of the tumor may vary, but commonly involve the head/neck regions, male and female urogenital tract or the trunk and extremities. Case presentation: Here, we report two challenging cases involving 17-and 9-years-olds males where diffuse and multiplex bone lesions suggested either a hematological disease or a primary bone tumor (mesenchymal chondrosarcoma). Biopsies, proved a massive infiltration of the bone marrow cavity with rhabdomyosarcoma. In both cases, the ARMS subtype was confirmed using FOXO1 break-apart probes (FISH). Radiological examination could not identify primary soft tissue component in any localization at the time of diagnosis in either cases. Conclusions: Primary alveolar rhabdomyosarcoma of the bone as a subtype of ARMS, seems to be a distinct clinicopathological entity with challenging diagnostic difficulties and different, yet better, biological behavior in comparison to soft tissue ARMS. However, it is difficult to be characterized or predict its prognosis and long-term survival as only sporadic cases (four) were reported so far.
Alveolar rhabdomyosarcoma with multiple distal metastases. A case report and review of literature
BMJ case reports, 2012
An 18-year-old boy, presented with a history of right hip pain with movement restriction and proptosis of right eye. There was severe anaemia, febrile neutropaenia and bleeding manifestations. CT scan of right orbit documented a retro orbital mass. MRI revealed a mass on right side of the pelvis with metastatic deposits in spine. Biopsy from that mass revealed alveolar rhabdomyosarcoma. Bone marrow biopsy showed sarcomatous involvement with decrease in all three cell lineages. Chemotherapy was started according to standard protocol. We lost the patient after 3 weeks of initiation of chemotherapy. In our case, the unusual primary site and presentation with multiple distal metastases makes this case stand apart and therefore worth reporting.