Alveolar Rhabdomyosarcoma With Concurrent Metastases to Bone Marrow and Lymph Nodes Simulating Acute Hematologic Malignancy

Chen, Lugen; Shah, Harshad O; Lin, Jen H.

doi:10.1097/01.mph.0000140654.50344.92

Cited by 16 publications

(15 citation statements)

References 3 publications

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“…4,6 Studies have shown that alveolar RMS tends to involves BM more frequently than embryonal RMS and that frequency of metastatic BM disease is significantly higher in cases of RMS with t(2;13) than in those with t(1;13). 11,14 The chromosomal translocations t(2;13)(q35;q14) and variant t(1;13) )(p36;q14), both hallmarks for alveolar RMS, are found in 55% and 22% of cases, respectively. 15 It is now recognized that t(2;13) generates a chimeric fusion gene PAX3-FKHR while t(1;13) results in another fusion gene termed PAX7-FKHR.…”

Section: Discussionmentioning

confidence: 99%

“…12 Alveolar RMS is associated with a poorer prognosis and cytogenetically identified by either of two chromosomal translocations t(2;13) or t(1;13). 1,13,14 Primary alveolar RMS is often recapitulated histologically by its metastases, including those in BM. 3,10,11 The authors report a case of massive BM involvement by clear cell variant of alveolar RMS, in which the primary tumor was not found.…”

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Massive bone marrow involvement by clear cell variant of rhabdomyosarcoma

Jani

Charles

2009

Indian J Pediatr

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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.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Massive bone marrow involvement by clear cell variant of rhabdomyosarcoma

Jani

Charles

2009

Indian J Pediatr

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“…Bone marrow metastasis of rhabdomyosarcoma has been reported to be difficult to distinguish from acute leukemia, as both conditions exhibit diffuse involvement of blast-like cells (6,(8)(9)(10)(22)(23)(24)(25)(26)(27)(28)(29)(30)(31)(32)(33)(34). In general, bone marrow metastasis of carcinoma can be distinguished from hematologic malignancies according to the presence of mass formation.…”

Section: Discussionmentioning

confidence: 99%

Bone Marrow Metastasis of Rhabdomyosarcoma Mimicking Acute Leukemia: A Case Report and Review of the Literature

et al. 2015

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Bone marrow metastasis of rhabdomyosarcoma has been reported to be difficult to distinguish from acute leukemia. We herein describe a case of rhabdomyosarcoma with bone marrow metastasis mimicking acute lymphoblastic leukemia. A 29-year-old woman was admitted with thrombocytopenia, blast-like cells in the peripheral blood and a coagulation disorder. Bone marrow aspirates showed 94.8% blast-like cell infiltration (CD45 -, myeloperoxidase -, and CD56 + ), and CT scan revealed the presence of an infiltrating mass in the nasal cavity. Based on a biopsy of the nasal cavity, the patient was diagnosed with rhabdomyosarcoma exhibiting bone marrow metastasis. She received chemotherapy, followed by radiation therapy, and has since remained alive for 26 months, as of the last follow-up.

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“…Embryonal subtype accounts for nearly 70 % with better prognosis, and alveolar subtype accounts for more than 20 % with a relatively poor prognosis. In recent years, the survival rate of RMS has greatly improved with the multimodal therapy proposed by the Intergroup Rhabdomyosarcoma Study Group (IRSG); in nonmetastatic RMS, the estimated 5-year overall survival rate was 88 % in the embryonal type and 72 % in the alveolar type [5,6,8]. Similar results were reported in Turkey [2].…”

Section: Introductionmentioning

confidence: 68%

“…The annual incidence is approximately 4.5 cases per million in children under the age of 20 [27]. Among all areas in the body, the head and neck region is the most frequent site, accounting for 35-40 % of the cases [5,6].…”

Section: Introductionmentioning

confidence: 99%

Cranial metastatic alveolar rhabdomyosarcoma mimicking hematological malignancy in an adolescent boy

et al. 2014

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Background Widespread alveolar rhabdomyosarcoma (ARMS) with bone marrow involvement and with an unknown primary tumor, especially presenting with acute tumor lysis syndrome can be easily misdiagnosed as a hematological malignancy. Furthermore, brain metastasis of ARMS is rare seen in children. Case report Herein, we report a 14-year-old boy presenting with acute tumor lysis syndrome due to bone marrow invasion of ARMS, who was diagnosed after abdominal paraaortic lymph node biopsy. Despite radiological and nuclear medicine imaging, the primary tumor site could not be found. He was treated with vincristine, topotecan, and cyclophosphamide for 42 weeks. Six months after the completion of treatment, he suffered from severe headache, blurred vision, right hemiplegia, and severe bone pain. Cranial magnetic resonance imaging showed multiple hemorrhagic infarctions. Brain biopsy showed brain metastasis with PAX3-FKHR fusion transcript. Conclusion The clinicians must be vigilant about solely brain metastasis in ARMS without additional metastasis.

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Alveolar Rhabdomyosarcoma With Concurrent Metastases to Bone Marrow and Lymph Nodes Simulating Acute Hematologic Malignancy

Cited by 16 publications

References 3 publications

Massive bone marrow involvement by clear cell variant of rhabdomyosarcoma

Massive bone marrow involvement by clear cell variant of rhabdomyosarcoma

Bone Marrow Metastasis of Rhabdomyosarcoma Mimicking Acute Leukemia: A Case Report and Review of the Literature

Cranial metastatic alveolar rhabdomyosarcoma mimicking hematological malignancy in an adolescent boy

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