Desmoplastic Small Round Cell Tumor of the Sigmoid Colon

Desmoplastic small round cell tumor (DSRCT) is a distinctive disease with a multidirectional differentiation and an aggressive clinical course. It mostly occurs in mesothelial-lined sites, and tumors originating in the paratesticular region, pleura and central nervous system are rarely reported. We report a case of DSRCT occurring in the sigmoid colon of a 39-year-old man, which was difficult to distinguish from small cell neuroendocrine carcinoma. The tumor was characterized by small round cells with irregular nests, cords, or rosette-like structures in the striking desmoplastic stroma. Some tumor cells had a rhabdoid feature with eosinophilic cytoplasmic globules. The tumor cells showed immunoreactivity for cytokeratin, epithelial membrane antigen, vimentin, desmin, neuron-specific enolase and Leu-7. Electron microscopic finding revealed perinuclear globoid whorls of intermediate filaments pushing the nucleus eccentrically.

A Case of premature ovarian failure developed from oral medication of cyclophosphamide for the treatment of pemphigus vulgaris / 대한산부인과학회잡지

Pemphigus vulgaris is autoimmune disease characterized by acantholysis and blister formation in the skin and mucosa. The introduction of corticosteroids has greatly reduced mortality, and a number of immunosuppressive agents, such as azathioprine and cyclophosphamide are recommended as adjuncts to oral steroids. A 38-year-old female patient of pemphigus vulgaris has been managed with daily oral cyclophosphamide as adjunct to prednisolone for about 11 months, and then transfered to our department due to amenorrhea for 4 months. Hormonal profile of FSH, LH and estradiol revealed in postmenopausal range and follow-up results of hormonal profile were not changed, and amenorrhea continues for total 13 months until now. So we report a case of premature ovarian failure complicated by long-term oral administration of cyclophosphamide.

A Case of Recurrent Holoprosencephaly / 대한산부인과학회잡지

Holoprosencephaly(HPE), a common developmental defect affecting the forebrain and cranioface, is etiologically heterogenous. Teratogen, chromosomal anomalies, genetic syndrome, or genetic disorder of non-syndromic HPE are usually accepted as etiology. But the severity of brain and craniofacial malformation are not associated with etiology. Individuals with microform of HPE, who usually have normal cognition and brain imaging, are at the risk of having children with HPE. Several studies on the basis of HPE gene have been performed, which shed valuable insight on normal brain development. As additional HPE genes are identified, more accurate recurrent risk counseling can be given. We experienced a case of recurrent HPE diagnosed by transabdominal ultrasound examinations at 22 weeks' gestation.