Solid variant of alveolar rhabdomyosarcoma with unbalanced t(2;13) and hypotetraploidy, without MYCN amplification

Smith, Arabella; Sharma, Praveen; Tomlinson, Jeanne; Robson, Lisa; Goldrick, Amanda

doi:10.1080/00313020123030

Cited by 7 publications

(4 citation statements)

References 9 publications

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“…Unbalanced t(2;13) has been reported once before in a solid variant of ARMS. [16] Identifying an unbalanced der(13) t(2;13)(q36;q14) and its corresponding PAX3-FOXO1 fusion (a well-known feature of a particularly aggressive type of ARMS) classified the disease properly as "high-risk" despite its controversial histology. In fact, other reports of rare RMS cases with mixed histology and PAX3-FOXO1 or PAX7-FOXO1 suggest that despite the mixed morphology, these tumors should be considered highly aggressive and treated accordingly.…”

Section: Discussionmentioning

confidence: 99%

Molecular Cytogenetics Detect an Unbalanced t(2;13)(q36;q14) and PAX3 -FOXO1 Fusion in Rhabdomyosarcoma With Mixed Embryonal/Alveolar Features

Starza

Nofrini

Pierini

et al. 2015

Pediatr Blood Cancer

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Distinguishing between alveolar rhabdomyosarcoma (ARMS) and embryonal rhabdomyosarcoma (ERMS) is crucial because treatment and prognosis are different. We describe a case of paratesticular rhabdomyosarcoma (RMS), which was classified as mixed ERMS/ARMS. Fluorescence in situ hybridization (FISH) detected losses of 3'PAX3 and 5'FOXO1, suggesting they had undergone an unbalanced rearrangement that probably produced the PAX3-FOXO1 fusion. Double-color FISH and reverse transcription-polymerase chain reaction (RT-PCR) revealed PAX3-FOXO1, which is characteristic of high-risk RMS. This finding highlights the importance of supplementing histology with genetics so that atypical RMS is appropriately classified and patients are correctly stratified and treated.

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Section: Discussionmentioning

confidence: 99%

Molecular Cytogenetics Detect an Unbalanced t(2;13)(q36;q14) and PAX3 -FOXO1 Fusion in Rhabdomyosarcoma With Mixed Embryonal/Alveolar Features

Starza

Nofrini

Pierini

et al. 2015

Pediatr Blood Cancer

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“…Myogenin, desmin, vimentin, and actin were all positive for most of the cases. [39][40][41][42][43][44][45][46] Genetic events in rhabdomyosarcoma detected by conventional cytogenetics, FISH, or whole-genome microarray studies affect multiple genes. Manifestation of rhabdomyosarcoma have also been described in several single gene disorders.…”

Section: Discussionmentioning

confidence: 99%

FOXO1–FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma

et al. 2011

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Rhabdomyosarcoma is the most common pediatric soft tissue malignancy. Two major subtypes, alveolar rhabdomyosarcoma and embryonal rhabdomyosarcoma, constitute 20 and 60% of all cases, respectively. Approximately 80% of alveolar rhabdomyosarcoma carry two signature chromosomal translocations, t(2;13)(q35;q14) resulting in PAX3-FOXO1 fusion, and t(1;13)(p36;q14) resulting in PAX7-FOXO1 fusion. Whether the remaining cases are truly negative for gene fusion has been questioned. We are reporting the case of a 9-month-old girl with a metastatic neck mass diagnosed histologically as solid variant alveolar rhabdomyosarcoma. Chromosome analysis showed a t(8;13;9)(p11.2;q14;9q32) three-way translocation as the sole clonal aberration. Fluorescent in situ hybridization (FISH) demonstrated a rearrangement at the FOXO1 locus and an amplification of its centromeric region. Single-nucleotide polymorphism-based microarray analysis illustrated a co-amplification of the FOXO1 gene at 13q14 and the FGFR1 gene at 8p12p11.2, suggesting formation and amplification of a chimerical FOXO1-FGFR1 gene. This is the first report to identify a novel fusion partner FGFR1 for the known anchor gene FOXO1 in alveolar rhabdomyosarcoma. Rhabdomyosarcoma accounts for 4-10% of pediatric malignancies. Four pathological subtypes have been traditionally defined: alveolar rhabdomyosarcoma, embryonal rhabdomyosarcoma, botyroid rhabdomyosarcoma, and pleiomorphic rhabdomyosarcoma. 1,2 Alveolar rhabdomyosarcoma and embryonal rhabdomyosarcoma have distinct clinical manifestations, biological behavior, genetic alterations, and account for B20 and B60% of all cases, respectively. 1 Alveolar rhabdomyosarcoma is most often seen in older children and is associated with a poor outcome, while embryonal rhabdomyosarcoma primarily occurs in children younger than 4 years of age and is usually associated with a better prognosis. 2 A rare solid variant of alveolar rhabdomyosarcoma has been described that is often morphologically indistinguishable from poorly differentiated embryonal rhabdomyosarcoma and may be confused with other 'small, round, blue cell tumors'. 3 A study of a large pediatric cohort of 171 patients with rhabdomyosarcoma by the children's oncology group (COG) has demonstrated the role of genetics in the development of rhabdomyosarcoma. 4 In the subtype of alveolar rhabdomyosarcoma, approximately 80% of cases harbored two signature chromosomal translocations, t(2;13)(q35;q14) in 60%, and t(1;13) (p36;q14) in 20% of cases. These translocations resulted in the formation and overexpression of chimerical genes PAX3-FOXO1

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“…FISH, performed by standard techniques [4], using the chromosome 4 library probe (wcp4) (CAMBIO) showed two fully painted chromosomes and a band signal within the derivative chromosome 11 (Fig. 2).…”

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confidence: 99%

“…Cytogenetic analysis we performed on GTG banded metaphase spreads following solid tissue culture of resected tumour [4]. The karyotype was abnormal (total 16 cells), with four related cell lines (two diploid and two tetraploid)-46, XX, ins (11;4) (q13; q21q25) t (1;11) (p22;q13) [8]…”

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confidence: 99%

Mucoepidermoid carcinoma of the bronchus in a 15‐year‐old girl with complex cytogenetic rearrangement involving 11q and over‐expression of cyclin D1

Barrett

Heaps

Díaz

et al. 2002

Med. Pediatr. Oncol.

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Solid variant of alveolar rhabdomyosarcoma with unbalanced t(2;13) and hypotetraploidy, without MYCN amplification

Cited by 7 publications

References 9 publications

Molecular Cytogenetics Detect an Unbalanced t(2;13)(q36;q14) and PAX3 -FOXO1 Fusion in Rhabdomyosarcoma With Mixed Embryonal/Alveolar Features

Molecular Cytogenetics Detect an Unbalanced t(2;13)(q36;q14) and PAX3 -FOXO1 Fusion in Rhabdomyosarcoma With Mixed Embryonal/Alveolar Features

FOXO1–FGFR1 fusion and amplification in a solid variant of alveolar rhabdomyosarcoma

Mucoepidermoid carcinoma of the bronchus in a 15‐year‐old girl with complex cytogenetic rearrangement involving 11q and over‐expression of cyclin D1

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