title: Spindle cell tumor with EWS-WT1 transcript and a favorable clinical course: a variant of DSCT, a variant of leiomyosarcoma, or a new entity? Report of 2 pediatric cases.
abstract: We report 2 intra-abdominal tumors originally diagnosed as leiomyosarcomas, occurring in adolescents, one as a second malignancy after a Hodgkin lymphoma. Both tumors exhibited unusual morphologic features characterized by spindle cells arranged in sheets or in fascicles, devoid of the typical desmoplastic stroma. Cytokeratins and mesenchymal markers, including smooth muscle actin, desmin, and muscle specific actin, were coexpressed in the tumor cells, whereas EMA was negative. Reverse transcription-polymerase chain reaction analysis showed an EWS-WT1 fusion transcript. Both patients are alive and in complete remission at 3 and 13 years after diagnosis, respectively. These tumors raise a variety of diagnostic possibilities. They could represent intra-abdominal desmoplastic small round cell tumor, with histologic features of epithelioid leiomyosarcoma or an unusual subtype of leiomyosarcoma with an EWS-WT1 transcript. Alternatively, they could represent an unrecognized subgroup of tumors with spindle cell morphology, bearing the same translocation as desmoplastic small round cell tumor, but characterized by a more favorable clinical course.
authors.affiliation: Dipartimento di Scienze Oncologiche e Chirurgiche Università di Padova and IOV (Istituto Oncologico Veneto) , Padova, Italy. ral@unipd.it
authors.forename: Rita
authors.initials: R
authors.lastname: Alaggio
authors.forename: Angelo
authors.initials: A
authors.lastname: Rosolen
authors.forename: Francesca
authors.initials: F
authors.lastname: Sartori
authors.forename: Anna
authors.initials: A
authors.lastname: Leszl
authors.forename: Emanuele S G
authors.initials: ES
authors.lastname: d'Amore
authors.forename: Gianni
authors.initials: G
authors.lastname: Bisogno
authors.forename: Modesto
authors.initials: M
authors.lastname: Carli
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cecchetto
authors.forename: Cheryl M
authors.initials: CM
authors.lastname: Coffin
authors.forename: Vito
authors.initials: V
authors.lastname: Ninfo
mesh_terms: D000008:Abdominal Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D014408:Biomarkers, Tumor / Q000235:genetics / Q000378:metabolism; D018288:Carcinoma, Small Cell / Q000235:genetics / Q000378:metabolism / Q000556:secondary*; D002648:Child; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D020732:Cytogenetic Analysis; D003893:Desmin / Q000378:metabolism; D018572:Disease-Free Survival; D006801:Humans; D007890:Leiomyosarcoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008297:Male; D016609:Neoplasms, Second Primary; D015514:Oncogene Proteins, Fusion / Q000235:genetics / Q000378:metabolism*; D012334:RNA, Neoplasm / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D014408:Biomarkers, Tumor; D003893:Desmin; C106032:EWS1-WT1 fusion protein, human; D015514:Oncogene Proteins, Fusion; D012334:RNA, Neoplasm