Pelvic Alveolar Rhabdomyosarcoma with Bone Marrow Involvement Misdiagnosed as Acute Myeloid Leukemia (original) (raw)
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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
Romanian Journal of Pediatrics, 2019
Rhabdomyosarcoma is the most common type of soft-tissue sarcoma, who invade and destroy nearby tissues. Rhabdomyosarcoma has defective myogenic differentiation and the alveolar subtype is the most aggressive, with hithgrade malignancy. We present the case of a 13-years-old girl, with a history of pain, functional impairment, red skin colour and swollen of the left thigh. The investigations have shown thrombosis on the left femoral and iliac vein, thrombosis that resulted from genetic predisposition together with the mechanisme of paraneoplastic thrombosis. The imagistic investigation documented retroperitoneal adenopathic masses encompassing the large vesels, gluteal and perianal mases, solid mass in the pancreatic head and multiple bone nodular lesions. The nonhematopoietic malignancies has masquerading acute leukemia on the bone marrow aspirate with atypical blasts (80% from cells population). The histological examination of the biopsy sample following excision of the left inguinal lymphadenopaty have revealed the final diagnosis: Stage IV alveolar rhabdomyosarcoma, with bone marrow infiltration and multiple metastases (inguinal, pelvic, periaortic, perihepatic), pancreatic and orbital metastases.
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.
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
An Atypical Presentation of Rhabdomyosarcoma
Portuguese journal of pediatrics, 2020
Thromboembolism is infrequent in children, nonetheless, whenever malignancy is present, there is an increased risk, around 7% to 25%. Rhabdomyosarcomas are typically asymptomatic masses, but patients can become symptomatic due to mass overgrowth and compression of surrounding structures, therefore presentation might be as a thromboembolic event. Sarcomas have recognized risk factors including large tumour masses, intensive chemotherapy, radiation therapy, extensive surgery and associated limited mobility. Whenever a thromboembolic event presents without a reliable aetiology and with no response to conventional treatment, an underlying malignancy should be excluded. In this context, we present a six-year-old boy who presented with a persistent symptomatic deep venous thrombosis of the inferior limb, despite anticoagulation and, in the subsequent investigation, a retroperitoneal rhabdomyosarcoma was diagnosed. In the light of this case, a brief review of the literature review is prese...
Clinical Sarcoma Research, 2015
Background: Rhabdomyosarcoma (RMS), a malignant tumour of mesenchymal origin which can occur at various sites in the body, is one of the most common soft tissue sarcomas in both children and adolescents, but is rare in adults with a prevalence of less than 1 %. The alveolar subtype of rhabdomyosarcoma (ARMS) is typically characterized by a specific reciprocal chromosomal translocation involving the PAX3 and FKHR or PAX7 and FKHR genes, respectively. ARMS is most frequently seen in childhood, and typically affects the sinuses and soft tissue of the extremities, with approximately 23 % exhibiting metastasis to the marrow. Non-invasive F-18-fluorodeoxyglucose positron-emission tomography (FDG-PET) scans have a high ability to detect lymph nodes, bone, and bone marrow involvement in patients with metastatic RMS, often with higher sensitivity and specificity compared with conventional modalities. Case presentation: Here, we report an unusual case of ARMS confined to the bone marrow in an older adult that lacked an identifiable primary tumour using FDG-PET/CT and mimicked a haematological disease with pancytopenia but without abnormal findings by FDG-PET/CT. The patient was initially treated with topotecan/cyclophosphamide and subsequently switched to vinorelbine. Due to severe toxicity the treatment was discontinued, however after 7-months follow-up, the patient is still alive with an improved general state of health and only a mild pancytopenia with no need for blood transfusions. Conclusion: Rhabdomyosarcoma can be limited to the bone marrow with no identifiable primary tumour. This case shows that the use of a bone marrow biopsy in suspected malignancies affecting the bone marrow is irreplaceable.
American Journal of Surgical Pathology, 2009
Adult-type rhabdomyosarcoma (RMS) has been classically defined as a pleomorphic sarcoma with desmin expression occurring in adult patients. To reevaluate this entity, we analyzed a series of 57 cases using immunohistochemistry for desmin, myogenin, alpha smooth muscle actin, h-caldesmon, pankeratin AE1/AE3, epithelial membrane antigen (EMA), S100 protein, CD34, MDM2, and CDK4. In this series, there were 36 men and 21 women aged from 22 to 87 years (median: 59). Tumors were mainly located in the lower limbs (27 cases), trunk wall (15 cases), and upper limbs (10 cases). Most tumors were deeply located (51/54) with a size from 1 to 30 cm (median: 8 cm). Cases were classified in 3 histologic categories: spindle cell RMS (25 cases), pleomorphic RMS (16 cases), and mixed type (16 cases). Forty-one tumors were grade 3 and 16 grade 2. Immunohistochemistry showed that every case was positive for desmin and myogenin. Alpha smooth muscle actin was positive in 21%, pankeratin AE1/AE3 in 20%, and CD34 in 13.2%. Treatment modalities and follow-up were available in 46 cases. Median follow-up was 60.9 months. Eight patients developed a local recurrence and 16 a distant metastasis with a 5-year overall survival rate of 52.6% and a 5-year metastasis-free survival of 62.9%. The only predictive factor for metastasis was histologic grade. In conclusion, adult-type RMS is a rare sarcoma occurring mainly in the extremities and trunk wall with 2 main histologic patterns, spindle cell, and pleomorphic patterns, which represent the end of the spectrum of a single entity.
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
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.
Pediatric and Developmental Pathology, 2004
In recent reports, investigators have described a variant of adult sclerosing rhabdomyosarcoma (RMS) that is characterized by a hyalinizing, matrix-rich stroma. To determine whether this variant occurs in children, we investigated this phenomenon in a recent series of 1207 pediatric patients who had RMS accessioned by the Intergroup Rhabdomyosarcoma Study Group, now part of Children's Oncology Group. Thirteen patients had features of sclerosing RMS; 9 had been diagnosed with alveolar RMS (ARMS), 3 with embryonal RMS (ERMS), and 1 with a spindle cell RMS. Primary sites included head and neck (6 patients), extremities (5 patients), scrotum (1 patient), and retroperitoneum (1 patient). Patients' ages ranged from 0.3 to 16 years. All tumors showed positivity for myogenin, MyoD, and desmin, but only 2 patients demonstrated the strong myogenin staining typically seen in ARMS. Three patients diagnosed with ARMS demonstrated embryonal-appearing foci, and 3 of 4 patients who had nona...