title: Sister Mary Joseph nodule caused by metastatic desmoplastic small round cell tumor: A clinicopathological report.
abstract: Sister Mary Joseph nodule is an uncommon metastatic intra-abdominal malignancy involving the umbilicus. The present study describes a rare case of desmoplastic small round cell tumor (DSRCT), histological grade 3, high grade, Gilly classification 4, stage IV, in an 18-year-old Thai man presenting with the Sister Mary Joseph nodule, ascites and pleural effusion. The histopathological examination of the umbilical mass revealed the presence of malignant small round cells associated with prominent stromal desmoplasia. Immunohistochemical stains showed positive reactivity to cytokeratin, desmin, neuron-specific enolase, Wilms' tumor 1, CD56, CD99 and SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1)/INI1 in the small round cells. Fine needle aspirations of the ascitic fluid and pleural effusion were performed, and immunocytochemistry revealed a metastatic DSRCT. The patient received a VDC/IE regimen of chemotherapy, comprising vincristine, doxorubicin, and cyclophosphamide alternating with ifosfamide and etoposide; however, the patient developed systemic metastasis and succumbed to the disease 6 months later.
authors.affiliation: Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Ratchathewi, Bangkok 10400, Thailand.
authors.forename: Noppadol
authors.initials: N
authors.lastname: Larbcharoensub
authors.affiliation: Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Ratchathewi, Bangkok 10400, Thailand.
authors.forename: Atcharaporn
authors.initials: A
authors.lastname: Pongtippan
authors.affiliation: Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Ratchathewi, Bangkok 10400, Thailand.
authors.forename: Duangjai
authors.initials: D
authors.lastname: Pangpunyakulchai
authors.affiliation: Department of Radiology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Ratchathewi, Bangkok 10400, Thailand.
authors.forename: Sith
authors.initials: S
authors.lastname: Phongkitkarun
authors.affiliation: Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Ratchathewi, Bangkok 10400, Thailand.
authors.forename: Panuwat
authors.initials: P
authors.lastname: Lertsithichai
authors.affiliation: Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Ratchathewi, Bangkok 10400, Thailand.
authors.forename: Thitiya S
authors.initials: TS
authors.lastname: Dejthevaporn
keywords: Sister Mary Joseph nodule; adult; ascitic fluid; desmoplastic small round cell tumor; pleural effusion; umbilical metastasis