A novel case of pediatric thoracic malignant ectomesenchymoma in an infant

Yohe, Marielle E.; Girard, Eric; Balarezo, Fabiola; Brown, Robert; Wu, Amy C.; Finck, Christine; Orsey, Andrea

doi:10.1016/j.epsc.2013.01.003

Cited by 3 publications

(6 citation statements)

References 13 publications

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“…However, the genetic alterations often present in neuroblastoma, such as N-MYC amplification or ALK exon 23 or 25 mutation, were not identified in this MEM case (data not shown). Rare case reports describing peripheral primitive neuroectodermal tumor in MEM without molecular support raise skepticism regarding the diagnosis 6,27,28 . In one case, the peripheral primitive neuroectodermal tumor component was positive for CD56 and S100, however, no CD99 status was investigated 27 .…”

Section: Discussionmentioning

confidence: 99%

“…Rare case reports describing peripheral primitive neuroectodermal tumor in MEM without molecular support raise skepticism regarding the diagnosis 6,27,28 . In one case, the peripheral primitive neuroectodermal tumor component was positive for CD56 and S100, however, no CD99 status was investigated 27 . These reports illustrate the inconsistent diagnostic criteria for MEM diagnosis 6,29 .…”

Section: Discussionmentioning

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: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Frequent HRAS Mutations in Malignant Ectomesenchymoma

Huang

Alaggio

Sung³

et al. 2016

American Journal of Surgical Pathology

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“…The neuroectodermal derivatives were represented by a neuroblastic-like tumor with varying degrees of differentiation (from poorly differentiated NB to ganglioneuroma) in 4 of our 6 patients; however, 2 cases demonstrated PNET-like morphology and immunoprofile. Prior to this case series, only few other manuscripts described PNET as a component of MEM 2,[8][9][10] (Table 2). Our findings suggest that ARMS and PNET may in fact be more common elements seen in ectomesenchyoma than previously reported.…”

Section: Discussionmentioning

confidence: 99%

“…Only rare cases display a neuroectodermal component represented by primitive neuroectodermal tumor (PNET). 2,[8][9][10] Usually, rhabdomyosarcomatous component is the predominant subtype, with only scattered focal evidence of neural differentiation, as observed on routine staining and confirmed with immunohistochemical studies. 3 Not surprisingly, the rarity of this entity has precluded robust biologic investigations and the few reports focusing on genetic/molecular alterations failed to identify a unique abnormality.…”

Section: Introductionmentioning

confidence: 94%

Malignant Ectomesenchymoma: Series Analysis of a Histologically and Genetically Heterogeneous Tumor

et al. 2017

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Our analysis extends the histologic and molecular spectrum of these tumors and highlights their heterogeneity. The percentage of cases with alveolar rhabdomyosarcoma or primitive neuroectodermal-like tumor components suggests that these types of elements might be underreported. This study is also the first to demonstrate FOXO1 gene rearrangements in malignant ectomesenchymoma with alveolar rhabdomyosarcoma subtype.

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“…Across all ages with MEM, the mesenchymal component is generally RMS with predominantly embryonal subtype [ 2 , 3 , 7 , 24 – 27 ] but pleomorphic sarcoma, undifferentiated sarcoma, chondrosarcoma, liposarcoma, and gliosarcoma have been reported [ 3 , 11 , 21 ]. The neuroectodermal component can be highly variable ranging from clustered ganglion cells to immature primitive neural elements only identified by immunohistochemical staining [ 2 , 11 , 24 – 27 ].…”

Section: Discussionmentioning

confidence: 99%

Metastatic Malignant Ectomesenchymoma Initially Presenting as a Pelvic Mass: Report of a Case and Review of Literature

Nael

Siaghani

et al. 2014

Case Reports in Pediatrics

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Pediatric soft tissue sarcomas account for approximately 10% of all pediatric malignancies. Malignant ectomesenchymoma is rare biphasic sarcomas consisting of both mesenchymal and neuroectodermal elements. Approximately 64 cases have been reported in the literature and are believed to arise from pluripotent embryologic migratory neural crest cells. We report a 4-year-old boy who initially presented with a pelvic mass and inguinal lymphadenopathy at 6 months of age. Inguinal lymph node biopsy revealed a distinct biphasic tumor with microscopic and immunophenotypic characteristics diagnostic for both alveolar rhabdomyosarcoma and poorly differentiated neuroblastoma. The patient received national protocol chemotherapy against rhabdomyosarcoma with good response and presented with a cerebellar mass 21 months later. The metastatic tumor revealed sheets of primitive tumor cells and diagnostic areas of rhabdomyosarcoma and neuroblastoma were identified only by immunohistochemistry. Cytogenetic analysis of metastatic tumor demonstrated complex karyotype with multiple chromosomal deletions and duplications. The patient received national protocol chemotherapy against neuroblastoma and adjuvant radiotherapy after surgical resection of the cerebellar tumor with good response. He is currently off from any treatment for 18 months with no evidence of tumor recurrence or metastasis.

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A novel case of pediatric thoracic malignant ectomesenchymoma in an infant

Cited by 3 publications

References 13 publications

Frequent HRAS Mutations in Malignant Ectomesenchymoma

Frequent HRAS Mutations in Malignant Ectomesenchymoma

Malignant Ectomesenchymoma: Series Analysis of a Histologically and Genetically Heterogeneous Tumor

Metastatic Malignant Ectomesenchymoma Initially Presenting as a Pelvic Mass: Report of a Case and Review of Literature

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