Pure Alveolar Rhabdomyosarcoma of the Corpus Uteri: Description of a Case with Increased Serum Level of CA-125

Chiarle, Roberto; Godio, Laura; Fusi, Donatella; Soldati, T; Palestro, Giorgio

doi:10.1006/gyno.1997.4742

Cited by 26 publications

(15 citation statements)

References 19 publications

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“…[48–53]), suggesting that they can arise in multiple cell types or in a single cell type found throughout the body, with certain locations such as the extremities being more susceptible than others. ARMS tumours are characterised by the expression of muscle-specific markers (reviewed in [54]), suggesting a possible myogenic origin, although their molecular characteristics are more related to cells that have been committed to the myogenic lineage but are unable to complete terminal differentiation to become skeletal muscle.…”

Section: Discussionmentioning

confidence: 99%

Regulatory landscape fusion in rhabdomyosarcoma through interactions between the PAX3 promoter and FOXO1 regulatory elements

et al. 2017

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BackgroundThe organisation of vertebrate genomes into topologically associating domains (TADs) is believed to facilitate the regulation of the genes located within them. A remaining question is whether TAD organisation is achieved through the interactions of the regulatory elements within them or if these interactions are favoured by the pre-existence of TADs. If the latter is true, the fusion of two independent TADs should result in the rewiring of the transcriptional landscape and the generation of ectopic contacts.ResultsWe show that interactions within the PAX3 and FOXO1 domains are restricted to their respective TADs in normal conditions, while in a patient-derived alveolar rhabdomyosarcoma cell line, harbouring the diagnostic t(2;13)(q35;q14) translocation that brings together the PAX3 and FOXO1 genes, the PAX3 promoter interacts ectopically with FOXO1 sequences. Using a combination of 4C-seq datasets, we have modelled the three-dimensional organisation of the fused landscape in alveolar rhabdomyosarcoma.ConclusionsThe chromosomal translocation that leads to alveolar rhabdomyosarcoma development generates a novel TAD that is likely to favour ectopic PAX3:FOXO1 oncogene activation in non-PAX3 territories. Rhabdomyosarcomas may therefore arise from cells which do not normally express PAX3. The borders of this novel TAD correspond to the original 5'- and 3'- borders of the PAX3 and FOXO1 TADs, respectively, suggesting that TAD organisation precedes the formation of regulatory long-range interactions. Our results demonstrate that, upon translocation, novel regulatory landscapes are formed allowing new intra-TAD interactions between the original loci involved.Electronic supplementary materialThe online version of this article (doi:10.1186/s13059-017-1225-z) contains supplementary material, which is available to authorized users.

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Section: Discussionmentioning

confidence: 99%

Regulatory landscape fusion in rhabdomyosarcoma through interactions between the PAX3 promoter and FOXO1 regulatory elements

et al. 2017

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“…To the best of my knowledge, only two cases of alveolar rhabdomyosarcoma arising in the uterine corpus have been reported 3,10 . One patient died 5 months after surgery because of disease progression 3 . The other patient remained in good health with no evidence of disease after 20 months 10 .…”

Section: Discussionmentioning

confidence: 95%

“…Rhabdomyosarcoma arising in the uterus has been reported, but pure rhabdomyosarcoma of the alveolar type is very rare. To the best of my knowledge, only two cases of alveolar rhabdomyosarcoma arising in the uterine corpus have been reported 3,10 . One patient died 5 months after surgery because of disease progression 3 .…”

Section: Discussionmentioning

confidence: 97%

“…Patients are usually postmenopausal or middle aged. Alveolar rhabdomyosarcoma is extremely rare and to the best of my knowledge, only two convincing cases of the uterine corpus 3,9 and three of the uterine cervix 4,7,10 have been described. Many of the older reported cases of rhabdomyosarcoma did not have confirmatory immunohistochemistry and may not have been adequately sampled.…”

Section: Discussionmentioning

confidence: 98%

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Pure alveolar rhabdomyosarcoma of the uterine corpus

Fukunaga¹

2011

Pathology International

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Herein is presented a very rare case of alveolar rhabdomyosarcoma in the uterine corpus of a 72-year-old woman. The wall of the uterine corpus was replaced by multiple whitish-yellow, friable nodules, measuring up to 6 cm. Microscopically, the tumor was predominantly composed of round to polygonal cells arranged in an alveolar, papillary or nest pattern intermingled with multinuclear giant cells with abundant eosinophilic cytoplasm. Extensive sampling failed to show epithelial elements. Immunohistochemically, the tumor was positive for striated muscle markers such as myoglobin, myoD1 and myogenin. Metastatic lesions were found in the retroperitoneum and pelvic lymph nodes. The patient was treated by postoperative chemotherapy, but she died of systemic metastases 12 months after surgery.

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“…Alveolar rhabdomyosarcomas are extraordinarily rare, [74][75][76][77] and probably display the same morphologic and cytogenetic attributes as alveolar rhabdomyosarcomas at other locations.…”

Section: Alveolar Rhabdomyosarcomasmentioning

confidence: 99%

Heterologous and Rare Homologous Sarcomas of the Uterine Corpus

Fadare¹

2011

Advances in Anatomic Pathology

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Pure sarcomas of the uterine corpus are uncommon, constituting less than 3% of all malignancies at this site, and most of them are leiomyosarcomas and endometrial stromal sarcomas. Rare histotypes of homologous sarcomas and heterologous sarcomas are occasionally encountered, and the absence of significant accumulated experience with these histotypes at this location may potentially raise diagnostic and patient management difficulties. In this article, the clinicopathologic attributes of all earlier reported sarcomas of the uterine corpus other than leiomyosarcomas and endometrial stromal sarcomas are summarized. Included are embryonal rhabdomyosarcoma, pleomorphic rhabdomyosarcoma, angiosarcoma, alveolar soft part sarcoma, malignant perivascular epithelioid cell tumors (PEComas), osteosarcoma, chondrosarcoma, liposarcomatous tumors, malignant extrarenal rhabdoid tumors, Ewing sarcoma/primitive neuroectodermal tumor, and other rare histotypes. Embryonal rhabdomyosarcoma (20%), Ewing sarcoma/primitive neuroectodermal tumor (17%), angiosarcoma (14%), and pleomorphic rhabdomyosarcoma (13%) appeared to be more common than the others, although there was no single overwhelmingly prevalent histotype in the group. A subset, including embryonal rhabdomyosarcoma, alveolar soft part sarcoma, and PEComas, peak in the premenopausal years, but most of the others were observed in postmenopausal women. Favorable outcomes have been reported for the patients diagnosed with alveolar soft part sarcoma, and the prognosis for their counterparts with PEComa remains a matter of debate. Multimodal therapeutic approaches to contemporary patients with embryonal rhabdomyosarcomas have resulted in significantly improved outcomes. Unfortunately, most of the other sarcomas have been associated with rapid tumor progression and unfavorable patient outcomes. The differential diagnosis for these sarcomas is often extensive and varies by histotype, but their accurate diagnosis fundamentally requires the careful exclusion of biphasic malignancies.

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Pure Alveolar Rhabdomyosarcoma of the Corpus Uteri: Description of a Case with Increased Serum Level of CA-125

Cited by 26 publications

References 19 publications

Regulatory landscape fusion in rhabdomyosarcoma through interactions between the PAX3 promoter and FOXO1 regulatory elements

Regulatory landscape fusion in rhabdomyosarcoma through interactions between the PAX3 promoter and FOXO1 regulatory elements

Pure alveolar rhabdomyosarcoma of the uterine corpus

Heterologous and Rare Homologous Sarcomas of the Uterine Corpus

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