Melanotic Neuroectodermal Tumor of Infancy: A Molecular Genetic Study

1998 ◽  
Vol 1 (4) ◽  
pp. 295-299 ◽  
Author(s):  
Maliheh Khoddami ◽  
Jeremy Squire ◽  
Maria Zielenska ◽  
Paul Thorner
Keyword(s):  
Ewing Sarcoma ◽  
Primitive Neuroectodermal Tumor ◽  
Molecular Genetic ◽  
Small Cell ◽  
Cell Tumor ◽  
Neuroectodermal Tumor ◽  
Round Cell ◽  
Peripheral Primitive Neuroectodermal Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell

Melanotic neuroectodermal tumor of infancy is a rare but well-recognized entity in pediatric pathology. However, the relationship of this tumor to other pediatric small cell tumors with neuroectodermal features (such as neuroblastoma, Ewing sarcoma/peripheral primitive neuroectodermal tumor, and desmoplastic small round cell tumor) is undetermined. Molecular genetic studies of melanotic neuroectodermal tumor of infancy have not been reported. We studied three typical cases of mela-notic neuroectodermal tumor of infancy in an attempt to link this tumor to other small cell tumors with well-characterized molecular genetic changes. Tests performed included: detection of MYCN gene amplification and deletion of 1p (all 3 cases), and presence of the t(11;22)(q24;q12) and the t(11;22)(p13;q12) translocations (2 of 3 cases). None of these tests yielded positive results. Thus, there is no genetic basis at present to link melanotic neuroectodermal tumor of infancy to neuroblastoma, Ewing sarcoma/peripheral primitive neuroectodermal tumor, or desmoplastic small round cell tumor.

scholarly journals WT1 Staining Reliably Differentiates Desmoplastic Small Round Cell Tumor From Ewing Sarcoma/Primitive Neuroectodermal Tumor

2000 ◽  
Vol 114 (3) ◽  
pp. 345-353 ◽  
Author(s):  
D. Ashley Hill ◽  
John D. Pfeifer ◽  
Edith F. Marley ◽  
Louis P. Dehner ◽  
Peter A. Humphrey ◽  
...  
Keyword(s):  
Ewing Sarcoma ◽  
Primitive Neuroectodermal Tumor ◽  
Cell Tumor ◽  
Neuroectodermal Tumor ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell

scholarly journals Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor and Related Tumors

2012 ◽  
Vol 15 (1_suppl) ◽  
pp. 108-126 ◽  
Author(s):  
Maria Tsokos ◽  
Rita D. Alaggio ◽  
Louis P. Dehner ◽  
Paul S. Dickman
Keyword(s):  
Young Adults ◽  
Ewing Sarcoma ◽  
Primitive Neuroectodermal Tumor ◽  
Cell Tumor ◽  
Adolescents And Young Adults ◽  
Gene Rearrangements ◽  
Round Cell ◽  
Peripheral Primitive Neuroectodermal Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell

Ewing sarcoma/peripheral primitive neuroectodermal tumor (EWS/pPNET) and other tumors with EWS gene rearrangements encompass a malignant and intermediate neoplasm with a broad anatomic distribution and a wide age range but a predilection for soft tissue in children, adolescents, and young adults. The overlapping histologic, immunohistochemical and cytogenetic and molecular genetic features create diagnostic challenges despite significant clinical and prognostic differences. Ewing sarcoma is the 3rd most common sarcoma in children and adolescents, and desmoplastic small round cell tumor is a rare neoplasm that occurs more often in older children, adolescents, and young adults. Pathologic examination is complemented by immunohistochemistry, cytogenetics, and molecular genetics. This article reviews the clinicopathologic features of EWS/pPNET and desmoplastic small round cell tumor in the spectrum of tumors with EWS gene rearrangements. Other tumors with different histopathologic features and an EWS gene rearrangement are discussed elsewhere in this volume.

scholarly journals Blue Round Small Cell tumor: A Surgical Update of DSRCT with review of literature ‘A Grim Affair’

2021 ◽  
pp. 31
Author(s):  
Keyword(s):  
Clinical Manifestations ◽  
Small Cell ◽  
Abdominal Discomfort ◽  
Primary Site ◽  
Cell Tumor ◽  
Round Cell ◽  
Review Of Literature ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell

Desmoplastic small round cell tumor (DSRCT) is a tumor derived from the Greek desmos referring to knot and plasis to formation an uncommon soft tissue malignant tumor, mesenchymal in origin and aggressive with a prelidiction for males and advanced at presentation. It was first described as a distinct clinical entity by Gerald WL and Rosai J (7). There are fewer than 200 reported to date. Depending on the primary site of location the Clinical manifestations vary. As most arise from the abdomen and pelvis they remain asymptomatic till they attain a huge size. Other reported sites are the skull, thorax, and paratesticular region (10,13). We report the case of a 19 yr old male who had non specific abdominal discomfort with asthenia for a period of six months and was referred to us for evaluation of left supraclavicular nodes. The prognosis of Desmoplastic small round cell tumor (DSRCT) is poor with few surviving less than two years.

Desmoplastic Small Round Cell Tumor of the Lung

2002 ◽  
Vol 126 (10) ◽  
pp. 1226-1228 ◽  
Author(s):  
Salahuddin Syed ◽  
Abida K. Haque ◽  
Hal K. Hawkins ◽  
Poul H. B. Sorensen ◽  
Daniel F. Cowan
Keyword(s):  
Gene Fusion ◽  
Epithelial Membrane Antigen ◽  
Molecular Genetic ◽  
Neuron Specific Enolase ◽  
Cell Tumor ◽  
Round Cell ◽  
Round Cell Tumor ◽  
Small Round Cell Tumor ◽  
Small Round Cell ◽  
Cytogenetic Evidence

Abstract An extra-abdominal desmoplastic small round cell tumor (DSRCT) of the lung with immunohistochemical, ultrastructural, and cytogenetic evidence of multidirectional differentiation is reported. We demonstrate that DSRCTs of the lung and pleura show morphologic, molecular, genetic, and ultrastructural features similar to DSRCTs arising in other sites. The tumor showed coexpression of cytokeratins (AE1/3, epithelial membrane antigen, CAM 5.2) and mesenchymal markers (vimentin, desmin, neuron-specific enolase), as well as WT1. Ultrastructurally, intracytoplasmic whorls of intermediate filaments, similar to previous descriptions of DSRCT in nonthoracic sites, were also demonstrated in this case. EWS-WT1 gene fusion characteristic of DSRCT with the t(11;22)(q13;q12) translocation was demonstrated in this tumor.

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