Ectomesenchymoma:A malignant tumor of migratory neural crest (ectomesenchyme) remnants showing ganglionic, schwannian, melanocytic and rhabdomyoblastic differentiation

Karcioglu, Zeynel A.; Someren, Ayten; Mathes, Stephen J.

doi:10.1002/1097-0142(197706)39:6<2486::aid-cncr2820390627>3.0.co;2-e

Cited by 115 publications

(41 citation statements)

References 28 publications

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“…Malignant ectomesenchymoma (MEM) is an exceedingly rare multiphenotypic sarcoma consisting of both mesenchymal and neuroectodermal lines of differentiation 1,2 . The mesenchymal component is represented by rhabdomyosarcoma (RMS), frequently of embryonal phenotype and less commonly resembling other variants 3,4 .…”

Section: Introductionmentioning

confidence: 99%

“…The admixed neuroectodermal component displays elements of (ganglio)neuroblastoma spectrum, varying from primitive neuroblastic cells to mature ganglion cells, with rare cases being reported with malignant peripheral nerve sheath tumor (MPNST), peripheral primitive neuroectodermal tumor, or glioma morphology 5–8 . The MEM nomenclature derives from its possible tumorigenesis from the pluripotential neural crest remnants, the so-called ectomesenchyme 1,2 .…”

Section: Introductionmentioning

confidence: 99%

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Frequent HRAS Mutations in Malignant Ectomesenchymoma

Huang

Alaggio

Sung³

et al. 2016

American Journal of Surgical Pathology

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Malignant ectomesenchymoma (MEM) is an exceedingly rare pediatric sarcoma, with predilection for infants and young children, composed of dual malignant mesenchymal and neuroectodermal components. Microscopically, MEM displays areas of rhabdomyosarcoma (RMS) with intermixed neuronal/neuroblastic foci. The molecular alterations MEM and its relationship with embryonal RMS (ERMS) and malignant peripheral nerve sheath tumor (MPNST) have not yet been elucidated. In this study we use whole transcriptome sequencing in 2 MEM index cases with available frozen tissue, followed by screening the identified genetic abnormalities in 5 additional cases. No candidate fusion genes were detected by FusionSeq analysis, however, the mutation detection algorithms revealed HRAS and PTPRD hot-spot mutations in both index cases, with one case harbouring an additional FBXW7 mutation. As these mutation profiles have been previously described in ERMS we have tested their incidence in a control group of 7 age-matched ERMS. Additionally, the gene signature of MEM was compared to that of RMS, MPNST and neuronal lineage. All 7 MEM patients were male, with a mean age of 7.5 months (range 0.6–17 mo). All except one occurred in the pelvis/urogenital region. Most cases showed ERMS elements, with occasional spindle or undifferentiated/round cell areas. The intermixed neuroectodermal components were mostly scattered ganglion cells, ganglioneuroma, or ganglioneuroblastoma. By Sanger sequencing, 6 of 7 (86%) MEMs had HRAS mutations, with no additional case harboring PTPRD or FBXW7 mutations. The only case lacking HRAS mutation showed neuroblastic micronodules without ganglion cells. The trimethylation at lysine 27 of histone H3 (H3K27me3) expression, typically lost in MPNST, was retained in all cases. In the control ERMS group, 5 of 7 (71%) showed RAS mutations, equally distributed among NRAS, KRAS, and HRAS genes. The expression profiling of MEM showed upregulation of skeletal muscle and neuronal genes, with no significant overlap with MPNST. Our results of common HRAS mutations and composite gene signature with RMS and neuronal/ neuroblastic elements, suggest a closer genetic link of MEM to RMS rather than MPNST.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Frequent HRAS Mutations in Malignant Ectomesenchymoma

Huang

Alaggio

Sung³

et al. 2016

American Journal of Surgical Pathology

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“…At necropsy, the neoplasm consisting of areas of rhabdomyosarcoma, liposarcoma, undifferentiated mesenchymoma containing cartilage, and ganglioneuroblastoma had metastasised to the right pulmonary hilar lymph nodes. A right sided facial neoplasm of a 6 year old girl described by Karcioglu et al (1977) was composed of foci of Schwannoma, embryonal rhabdomyosarcoma, clusters of benign melanocytes, and mature and immature ganglioneuroma. The pathogenesis of the tumours in both cases can be clarified by the bidermal nature of the neural crest derivatives where the growths have originated.…”

Section: Discussionmentioning

confidence: 99%

Malignant mesenchymoma of ulnar nerve: combined sarcoma of nerve sheath and rhabdomyosarcoma.

Shuangshoti¹,

Chongchet²

1979

Journal of Neurology, Neurosurgery & Psychiatry

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SUMMARY Malignant mesenchymoma within the right ulnar nerve of an 8 year old boy is described. The patient did not have stigmata of von Recklinghausen's neurofibromatosis. The growing and painful tumour was excised five and a half months after detection, and recurred five months later. Mingling of the nerve sheath sarcoma and rhabdomyosarcoma was noted within the same mass which was separated from the adjacent striated muscles. It is suggested that this mesenchymoma arose from mesenchymal cells or cells of mesenchymal type comprising the peripheral nerve sheath which is derived from ectomesenchyme of the neural crest.We have already recorded two cases of primary intracranial rhabdomyosarcoma (Shuangshoti et al, 1968;Shuangshoti and Phonprasert, 1976). This tumour comprised only 0.1 % of 1028 intracranial neoplasms reported by Shuangshoti and Panyathanya (1974). These authors have also investigated 1274 tumours of peripheral nerve-61.5 % neurofibromas, 33.5 % neurilemmomas, 0.1 % combined neurofibromas and neurilemmomas, and 4.9 % nerve sheath sarcomas (so-called malignant Schwannomas, neurofibrosarcomas, or neurogenic sarcomas). They found no instances of these peripheral nerve neoplasms containing elements of striated muscle. Only a subcutaneous neurilemmoma had bone formation within the mass which was presented separately

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“…This unusual and rapidly progressing sarcoma is believed to originate from the ectomesenchyme, which is the term used for neural crest tissue that shows mesenchymal differentiation during embryogenesis [18]. Approximately 64 cases of MEM have been so far reported in the literature, the majority of which have arisen in young infants with a marked male predominance.…”

Section: Malignant Ectomesenchymomamentioning

confidence: 99%

Rhabdomyoblasts in Pediatric Tumors: A Review with Emphasis on their Diagnostic Utility

Angelico¹,

Piombino²,

Broggi³

et al. 2017

J Stem Cell Ther Transplant

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SUMMARYRhabdomyosarcoma is a soft tissue pediatric sarcoma composed of cells which show morphological, immunohistochemical and ultrastructural evidence of skeletal muscle differentiation. To date four major subtypes have been recognized: embryonal, alveolar, spindle cell/sclerosing and pleomorphic. All these subtypes are defi ned, at least in part, by the presence of rhabdomyoblasts, i.e. cells with variable shape, densely eosinophilic cytoplasm with occasional cytoplasmic cross-striations and eccentric round nuclei. It must be remembered, however, that several benign and malignant pediatric tumours other than rhabdomyosarcoma may exhibit rhabdomyoblaststic and skeletal muscle differentiation. This review focuses on the most common malignant pediatric neoplasm that may exhibit rhabdomyoblastic differentiation, with an emphasis on the most important clinicopathological and differential diagnostic considerations.

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Ectomesenchymoma:A malignant tumor of migratory neural crest (ectomesenchyme) remnants showing ganglionic, schwannian, melanocytic and rhabdomyoblastic differentiation

Cited by 115 publications

References 28 publications

Frequent HRAS Mutations in Malignant Ectomesenchymoma

Frequent HRAS Mutations in Malignant Ectomesenchymoma

Malignant mesenchymoma of ulnar nerve: combined sarcoma of nerve sheath and rhabdomyosarcoma.

Rhabdomyoblasts in Pediatric Tumors: A Review with Emphasis on their Diagnostic Utility

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