Congenital Cervical Rhabdomyosarcoma Arising in One Fetus of a Twin Pregnancy

Yoshino, Kiyoshi; Takeuchi, Makoto; Nakayama, Masahiro; Suehara, Noriyuki

doi:10.1159/000085088

Cited by 20 publications

(8 citation statements)

References 19 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%

“…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%

Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma

Mosquera

Sboner

Zhang

et al. 2013

Genes Chromosomes & Cancer

203

174

View full text Add to dashboard Cite

show abstract

“…There are two main subtypes, alveolar and embryonic, with the more common embryonic type exhibiting no diagnostic genetic changes, but often showing loss of heterozygosity of the short arm of chromosome 11, while alveolar rhabdomyosarcoma is associated with specific PAX‐FKHR translocations30. It is very rare for these tumors to occur before 1 month of age and only a few cases have been described occurring antenatally31–35. In these cases the tumor appeared as rapidly growing masses of irregular contour and solid ‘fibroid‐like’ sonographic appearance.…”

Section: Fetal Malignanciesmentioning

confidence: 99%

Metal Ion Coordination to Azole Nucleosides

Müller

Böhme

Lax

et al. 2005

Chemistry A European J

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To evaluate the possibility of introducing azole nucleosides as building blocks for metal-mediated base pairs in artificial oligonucleotides, imidazole nucleoside, 1,2,4-triazole nucleoside and tetrazole nucleoside have been synthesized and characterized. The X-ray crystal structures of p-toluoyl-protected 1,2,4-triazole and tetrazole nucleosides are reported. Contrary to the situation primarily found for deoxyribonucleosides, the sugar moieties adopt C3'-endo conformations. The acidity of the beta nucleosides increases with increasing number of nitrogen ring atoms, giving pKa values of 6.01 +/- 0.05, 1.32+/-0.05 and <-3, respectively. This decrease in basicity results in a decreasing ability to form 2:1 complexes with linearly coordinating metal ions such as Ag+ and Hg2+. In all cases, the Ag+ complexes are of higher stability than the corresponding Hg2+ complexes. Whereas imidazole nucleoside forms highly stable 2:1 complexes with both metal ions (estimated log beta2 values of >10), only Ag+ is able to reach this coordination pattern in the case of triazole nucleoside (log beta2 = 4.3 +/- 0.1). Tetrazole nucleoside does not form 2:1 complexes at all under the experimental conditions used. These data suggest that imidazole nucleoside, and to a lesser extent 1,2,4-triazole nucleoside, are likely candidates for successful incorporation as ligands in oligonucleotides based on metal-mediated base pairs. DFT calculations further corroborate this idea, providing model complexes for such base pairs with glycosidic bond distances (10.8-11.0 Angstroms) resembling those in idealized B-DNA (10.85 Angstroms).

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“…Other tumors occurring with NIHF include neuroblastomas, hemangiomas, fibrosarcomas, and rhabdomyosarcomas . Examples of chromosome imbalances reported in association with fetal tumors and NIHF include a translocation between chromosomes 2q35 and 8q21.2 in a fetus with a cervical rhabdomyosarcoma, a mosaic ring X chromosome in a fetus with an epignathus teratoma, and a 22q11.2 deletion in a fetus with a rhabdoid tumor…”

Section: Genetic Causes Of Nihf By Organ Systemmentioning

confidence: 99%

A system‐based approach to the genetic etiologies of non‐immune hydrops fetalis

et al. 2019

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A wide spectrum of genetic causes may lead to nonimmune hydrops fetalis (NIHF), and a thorough phenotypic and genetic evaluation are essential to determine the underlying etiology, optimally manage these pregnancies, and inform discussions about anticipated prognosis. In this review, we outline the known genetic etiologies of NIHF by fetal organ system affected, and provide a systematic approach to the evaluation of NIHF. Some of the underlying genetic disorders are associated with characteristic phenotypic features that may be seen on prenatal ultrasound, such as hepatomegaly with lysosomal storage disorders, hyperechoic kidneys with congenital nephrosis, or pulmonary valve stenosis with RASopathies. However, this is not always the case, and the approach to evaluation must include prenatal ultrasound findings as well as genetic testing and many other factors. Genetic testing that has been utilized for NIHF ranges from standard chromosomal microarray or karyotype to gene panels and broad approaches such as whole exome sequencing. Family and obstetric history, as well as pathology examination, can yield additional clues that are helpful in establishing a diagnosis. A systematic approach to evaluation can guide a more targeted approach to genetic evaluation, diagnosis, and management of NIHF.

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Congenital Cervical Rhabdomyosarcoma Arising in One Fetus of a Twin Pregnancy

Cited by 20 publications

References 19 publications

Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma

Recurrent NCOA2 gene rearrangements in congenital/infantile spindle cell rhabdomyosarcoma

Metal Ion Coordination to Azole Nucleosides

A system‐based approach to the genetic etiologies of non‐immune hydrops fetalis

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