Detection and clinical significance of bone marrow involvement in patients with rhabdomyosarcoma

Krsková, Lenka; Mrhalová, Marcela; Hilská, I; Sumerauer, David; Drahokoupilová, Eva; Múdrý, Peter; Kodet, Roman

doi:10.1007/s00428-010-0913-9

Cited by 16 publications

(15 citation statements)

References 17 publications

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“…Detection of the fusion transcripts BCOR-CCNB3 in the bone marrow suggests that patients with positive findings are at high risk of the tumor progression. The frequency of BM RT-PCR positive cases in clinically non-metastatic patients was similar to that described in patients with Ewing sarcomas [16,17,18], in rhabdomyosarcomas [19,20,21], or in neuroblastoma [22].…”

Section: Discussionsupporting

confidence: 70%

An undifferentiated sarcoma with BCOR-CCNB3 fusion transcript - pathological and clinical retrospective study

Krsková

Kabíčková

Drahokoupilová

et al. 2018

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The BCOR-CCNB3 positive sarcoma is a recently identified sarcoma morphologically and clinically similar to Ewing sarcoma in adolescents and young adults. The BCOR-CCNB3 fusion transcript originates from a paracentric inversion on the X chromosome with an in-frame fusion between the last codon of BCOR and the exon 5 of CCNB3 gene. We report morphological and molecular genetic analysis of 8 undifferentiated sarcomas positive for the BCOR-CCNB3 fusion. Six of the eight BCOR-CCNB3 positive sarcoma patients were male. Five of the eight patients were in their second decade of life (median of all patients 14 years at diagnosis). The bone marrow involvement was demonstrated in 2 of 4 patients tested. Detection of the fusion transcripts BCOR-CCNB3 in the bone marrow suggests that patients with positive findings are at high risk of the tumor progression.

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Section: Discussionsupporting

confidence: 70%

An undifferentiated sarcoma with BCOR-CCNB3 fusion transcript - pathological and clinical retrospective study

Krsková

Kabíčková

Drahokoupilová

et al. 2018

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“…Studies have shown that alveolar RMS tends to involve BM more frequently than ERMS. BM metastases at diagnosis signifies worse prognosis than with metastases to other organs 5 6. Inclusion of BM trephine biopsy as a routine part of the investigation of patients with features of BM failure is essential and clinicians should be aware of the fact that ARMS frequently masquerade as haematological malignancies 7.…”

Section: Discussionmentioning

confidence: 99%

Alveolar rhabdomyosarcoma with multiple distal metastases. A case report and review of literature

et al. 2012

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SummaryAn 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. BACKGROUND

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“…Complementary DNA was prepared from 1 µl of RNA in 20 µl of reaction volume. The protocol was described by Krsková et al [21].…”

Section: Methodsmentioning

confidence: 99%

Rhabdomyosarcoma: Molecular analysis of Igf2, MyoD1 and Myogenin expression.

Krsková¹,

Augustinakova²,

Drahokoupilová³

et al. 2011

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Rhabdomyosarcoma is the most common soft tissue sarcoma of childhood. There are two major histopathological types of RMS – embryonal (eRMS) and alveolar (aRMS). A molecular study of Igf2, MyoD1 and Myogenin was performed to determine the expression profiles and to assess the possible utility of these genes as potential treatment targets. Patients with RMS showed up to 100-fold increase of Igf2 transcription in comparison with normal skeletal muscle. Our data suggest that overexpression of Igf2 occurs in RMS of both histological subtypes. No correlation between the results of Igf2 mRNA expression and LOH at the 11p15 region (p= 0.12) was observed, but there was a trend of a higher expression of Igf2 mRNA in RMS samples with LOH. We observed a high level of MyoD1 mRNA in both aRMS and eRMS, and we detected a similar level of MyoD1 mRNA in RMS and normal skeletal muscles. There was a correlation between the results of MyoD1 mRNA expression and LOH at the 11p15 region.We did not observe any statistical difference in the level of Myogenin mRNA in the subgroups of RMS. Analogous to MyoD1, we observed a similar level of Myogenin mRNA in RMS and normal skeletal muscles.

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Detection and clinical significance of bone marrow involvement in patients with rhabdomyosarcoma

Cited by 16 publications

References 17 publications

An undifferentiated sarcoma with BCOR-CCNB3 fusion transcript - pathological and clinical retrospective study

An undifferentiated sarcoma with BCOR-CCNB3 fusion transcript - pathological and clinical retrospective study

Alveolar rhabdomyosarcoma with multiple distal metastases. A case report and review of literature

Rhabdomyosarcoma: Molecular analysis of Igf2, MyoD1 and Myogenin expression.

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