Translocation (2;8)(q35;q13): a recurrent abnormality in congenital embryonal rhabdomyosarcoma

Meloni‐Ehrig, Aurelia; Smith, Bridget; Zgoda, JoAnna; Greenberg, Jay; Perdahl-Wallace, Eva; Zaman, Syed M A; Mowrey, Philip N.

doi:10.1016/j.cancergencyto.2009.01.010

Cited by 14 publications

(11 citation statements)

References 5 publications

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“…Moreover, detailed molecular analysis using RT-PCR and FISH was unable to detect the presence of either t(2;13) or t(1;13) translocation in these three cases tested (Grundy et al, 2001), suggesting that the pathogenesis of this highly malignant and aggressive congenital tumor may be different than most ARMS in older children. In contrast, a similar pattern of molecular/genetic abnormalities is emerging in congenital/neonatal ERMS, with three cases reported so far showing a recurrent t(2;8) translocation (Hayashi et al, 1988; Yoshino et al, 2005; Meloni-Ehrig et al, 2009), and an additional case showing an identical translocation in an 8 month-old boy (Hosoi et al, 2009) (Table 2). In the case reported by Meloni et al .…”

Section: Discussionmentioning

confidence: 77%

“…In the case reported by Meloni et al . (Meloni-Ehrig et al, 2009), the t(2;8)(q35;q13) translocation was subsequently cloned as resulting in PAX3-NCOA2 fusion (Sumegi et al, 2010). Unfortunately, the histopathology of these congenital ERMS harboring a t(2;8)(q35;q13) is not well documented in these publications, with limited microscopic description provided and in some instances without accompanying illustrations (Hayashi et al, 1988).…”

Section: Discussionmentioning

confidence: 99%

“…Unfortunately, the histopathology of these congenital ERMS harboring a t(2;8)(q35;q13) is not well documented in these publications, with limited microscopic description provided and in some instances without accompanying illustrations (Hayashi et al, 1988). From the review of the provided microscopic images, the lesions show a rather primitive morphology with undifferentiated small rounded cells, with possible transition to oval/fusiform cells, separated by a thick fibrous stroma (Table 2)(Yoshino et al, 2005; Hosoi et al, 2009; Meloni-Ehrig et al, 2009). Thus, the exact subclassification of these cases into ARMS vs. ERMS vs. other categories remains far from straightforward.…”

Section: Discussionmentioning

confidence: 99%

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Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma

Mosquera

Sboner

Zhang

et al. 2013

Genes Chromosomes & Cancer

203

174

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Spindle cell rhabdomyosarcoma (RMS) is a rare form of RMS with different clinical characteristics and behavior between children and adult patients. Its genetic hallmark remains unknown and it remains debatable if there is pathogenetic relationship between the spindle cell and the so-called sclerosing RMS. We studied two pediatric and one adult spindle cell RMS by next generation RNA sequencing and used FusionSeq for data analysis to detect novel fusions. An SRF-NCOA2 gene fusion was detected in a spindle cell RMS from the posterior neck in a 7 month-old child. The fusion matched the tumor karyotype and was further confirmed by fluorescence in situ hybridization (FISH) and by RT-PCR, which showed fusion of SRF exon 6 to NCOA2 exon 12. Additional 14 spindle cell (from 8 children and 6 adults) and 4 sclerosing (from 2 children and 2 adults) RMS were tested by FISH for the presence of abnormalities in NCOA2, SRF, as well as for PAX3 and NCOA1, identifying NCOA2 rearrangements in two additional spindle cell RMS from a 3 month-old and a 4 week-old child, both arising in the chest wall. In the latter tumor, TEAD1 was identified by rapid amplification of cDNA ends (RACE) to be the NCOA2 gene fusion partner. None of the adult tumors were positive for NCOA2 rearrangement. Despite similar histomorphology in adults and young children, these results suggest that spindle cell RMS is a heterogeneous disease genetically as well as clinically. Our findings also support a relationship between NCOA2-rearranged spindle cell RMS occurring in young childhood and the so-called congenital RMS, which often displays rearrangements at 8q13 locus (NCOA2).

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Section: Discussionmentioning

confidence: 77%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma

Mosquera

Sboner

Zhang

et al. 2013

Genes Chromosomes & Cancer

203

174

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“…RMS tumors can occur at any age, but are most common in children under the age of 15 (3,4). According to their clinical pathological morphology and genetic variation, RMS tumors can be divided into five subtypes (5,6): Botryoid RMS (BRMS), spindle cell RMS (SRMS), embryonal RMS (ERMS), alveolar RMS (ARMS), pleomorphic RMS (PRMS) and undifferentiated sarcoma (7,8). RMS tumor prognosis and outcome is highly correlated to these subtypes, suggesting that they exhibit different biological characteristics (9,10).…”

Section: Introductionmentioning

confidence: 99%

c-Myc promotes tumor proliferation and anti-apoptosis by repressing p21 in rhabdomyosarcomas

Zhang

Song

Zang

et al. 2017

Molecular Medicine Reports

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v-myc avian myelocytomatosis viral oncogene homolog (c-Myc) is an important member protein of the Myc family that is important in cell cycle progression, apoptosis and tumorigenesis. In the present study, the role of c‑Myc in rhabdomyosarcoma (RMS) was assessed. Firstly, expression of endogenous c‑Myc and cyclin dependent kinase inhibitor 1A (p21) was examined in normal skeletal muscle, RMS specimens and TE671 RMS cells by immunohistochemistry, reverse transcription‑quantitative polymerase chain reaction and western blotting. Furthermore, cell cycle progression and apoptosis were assessed in TE671 RMS cells following treatment with a c‑Myc inhibitor, 10058‑F4. The results demonstrated that c‑Myc was overexpressed in clinical RMS tissues and TE671 cells, with the highest expression observed in the most RMS samples. Expression of p21 protein and apoptosis function were increased following treatment with 10058‑F4, but no difference was observed in cell cycle progression. In conclusion, the present study indicated that c‑Myc promotes RMS development by inhibiting apoptosis through repression of p21 transcription. Further studies will be required to evaluate c‑Myc as a target for RMS clinical treatment.

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“…Recently, a novel PAX3 rearrange ment was identified by FISH ana lysis in a histo logically classified ERMS [26]. The involvement of a new PAX3 rearrangement was also hypoth esized on a cytogenetical basis for congenital ERMS [27].…”

Section: Molecular Classification Chromosomal Translocationsmentioning

confidence: 98%

Molecular and Cellular Biology of Rhabdomyosarcoma

et al. 2009

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Translocation (2;8)(q35;q13): a recurrent abnormality in congenital embryonal rhabdomyosarcoma

Cited by 14 publications

References 5 publications

Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma

Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma

c-Myc promotes tumor proliferation and anti-apoptosis by repressing p21 in rhabdomyosarcomas

Molecular and Cellular Biology of Rhabdomyosarcoma

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