Jae Kyu Sung

A case of concomitant Gilbert's syndrome and hereditary spherocytosis

We describe moderate hyperbilirubinemia in a 28-year-old man who suffered from gallstones and splenomegaly, with combined disorders of hereditary spherocytosis (HS) and Gilberts syndrome (GS). Since it is difficult to diagnose HS in the absence of signs of anemia, we evaluated both the genetic mutation in the UGT1A1 gene and abnormalities in the erythrocyte membrane protein; the former was heterozygous for a UGT1A1 allele with three mutations and the latter was partially deficient in ankyrin expression. This is the first report of the concomitance of HS and GS with three heterozygous mutations [T-3279G, A (TA)7TAA, and G211A] in the UGT1A1 gene.

A Case of Primary Ovarian Lymphoma Presenting as a Rectal Submucosal Tumor

Primary ovarian lymphoma is a rare malignancy whose symptoms or signs are usually nonspecific. In this article, we report a very rare case initially presenting as a rectal submucosal-tumor-like lesion with a defecation disturbance caused by primary ovarian lymphoma with bilateral involvement. A 42-year-old woman visited chungnam national university hospital complaining of persistent defecation disturbance for 6 months. Colonoscopy demonstrated compression of the rectum by an extrinsic mass mimicking a rectal submucosal tumor. Magnetic resonance imaging detected bilateral ovarian tumors, 9.3 cm and 5.4 cm each in diameter, compressing the rectum without enlarged lymph nodes. The diagnosis was established following a bilateral adnexectomy and histological studies of the excised tissue. The tumor was classified as a diffuse large B-cell lymphoma. The patient was prescribed six cycles of standard CHOP (cyclophosphamide, hydroxydaunorubicin, vincristine, prednisolone) regimen and is presently on treatment.

Recurrent Renal Leiomyosarcoma Mimicking a Colonic Submucosal Tumor: A Case Report

A primary leiomyosarcoma of the kidney is a rare, but highly aggressive, neoplasm, accounting for only 0.1% of all invasive renal tumors. Local or systemic recurrence is common, but a leiomyosarcoma is difficult to diagnose preoperatively. We recently encountered an interesting case of an unusual recurrence of a renal leiomyosarcoma. A 57-year-old woman visited our hospital complaining of lower abdominal pain. Four years previously, she had undergone a left nephrectomy. She had a primary leiomyosarcoma of the kidney that had been misdiagnosed as a renal cell carcinoma. Colonoscopy revealed the presence of a lesion similar to a submucosal tumor in the descending colon. Postoperative pathologic examination confirmed that the mass was a recurrent leiomyosarcoma. We report this unusual case and present a review of the literature.