Myelodysplastic Syndrome (RAEB-II) Development 2 Months after Chemotherapy for a Primary Non-seminomatous Mediastinal Germ Cell Tumor / 대한내과학회지

Here, we report on a 20-year-old patient with a primary nonseminomatous mediastinal germ cell tumor (MGCT) who developed myelodysplastic syndrome (MDS) 2 months following chemotherapy with cisplatin, etoposide, ifosfamide, and paclitaxel. Bone marrow examinations revealed that the MDS was a refractory anemia with excess type II blasts and complex chromosomal abnormalities. With the onset of MDS occurring rapidly following chemotherapy, it is unlikely to have been caused by the therapy. We discuss the association between primary nonseminomatous MGCTs and hematological malignancies, including the possibility of a common clonal origin.

Two cases of Klinefelter syndrome with precocious puberty due to mediastinal germ cell tumor.

Background: Klinefelter syndrome may present as precocious puberty, which can be either central precocious puberty or peripheral precocious puberty, caused by an extragonadal germ cell tumor. Objective: Report two cases of Klinefelter syndrome that presented with precocious puberty due to a ?-hCG producing mediastinal tumor. Method: Review of the clinical history, physical examination, and laboratory investigations. Results: Pseudo-precocity developed some years before diagnosis of -hCG producing tumor. The patients did not have typical physical features of this syndrome. The testes were small and had loose consistency. Conclusion: Klinefelter syndrome must be excluded in all boys presenting with precocious puberty due to a ?-hCG producing tumor. Conversely, patients with Klinefelter syndrome should be regularly checked for ?-hCG and ?-fetoprotein levels. In those cases, the patients can be diagnosed and treated early. With the early treatment, they will be able to attain normal adult height and have fewer complications from the tumor.

Development of Acute Megakaryoblastic Leukemia with Isochromosome (12p) after a Primary Mediastinal Germ Cell Tumor in Korea

The association of hematological malignancies with a mediastinal germ cell tumor (GCT) is very rare. We report one case of a young adult male with primary mediastinal GCT who subsequently developed acute megakaryoblastic leukemia involving isochromosome (12p). A 25-yr-old man had been diagnosed with a mediastinal GCT and underwent surgical resection and adjuvant chemotherapy. At 1 week after the last cycle of chemotherapy, his peripheral blood showed leukocytosis with blasts. A bone marrow study confirmed the acute megakaryoblastic leukemia. A cytogenetic study revealed a complex karyotype with i(12p). Although additional chemotherapy was administered, the patient could not attain remission and died of septic shock. This case was definitely distinct from therapy-related secondary leukemia in terms of clinical, morphologic, and cytogenetic features. To our knowledge, this is the first case report of a patient with mediastinal GCT subsequently developing acute megakaryoblastic leukemia involving i(12p) in Korea.

A Case of Primary Mediastinal Embryonal Carcinoma Arising in the Posterior Mediastinum / 결핵

Primary germ cell tumors of the mediastinum are rare, accounting 1-5% among all germ cell tumors and 10% of all neoplasms in this area. Approximately 85% of these tumors occur in men with a mean age 29 years. These tumors are mainly found in the anterior mediastinum and appear grossly as large lobulated masses. They are frequently invasive at the time of diagnosis and almost 90% of patients are symptomatic. Primary nonseminomatous germ cell tumor arising in the posterior mediastinum is very rare. We report a case of 37- year old male arising from the posterior mediastinum. Serum tumors markers including alpha-fetoprotein and beta-hCG which are usually elevated in germ cell tumor were not elevated. He was found to have a primary mediastinal embryonal carcinoma with pulmonary metastasis at open exploration. He was treated with debulking surgery and cisplatin-based chemotherapy, died of sepsis after 15 months postoperatively.

A Case of Primary Mediastinal Germ Cell Tumor Associated with Klinefelter's Syndrome / 결핵

Klinefelter's syndrome is characterized by small testes, azoospermia, gynecomastia, and elevated levels of plasma gonadotropins in men with two or more X chromosomes. Previous investigators reported that patients with Klinefelter's syndrome are predisposed to the development of a non-seminomatous germ cell tumor in the mediastinum. It is suggested that this linkage may be due to the hormonal imbalance in Klinefelter's syndrome and consequently, the formation of dysgenetic germ cell and/or abnomal migration of germ cell. We report here a case of Klinefelter's syndrome in a 24-years-old man who was presented with anterior mediastinal mass. The clinical and laborarotory findings were compatible with Klinefelter's syndrome and he was found to have 47 XXY karyotype. Pathological findings for mediastinal mass revealed mixed germ cell tumor composed of mature cystic teratoma and endodermal sinus tumor. He was treated with cis-platin containing chemotherapy and followed up in partial remission.