Cases reported "Germinoma"

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1/15. Successful pregnancy by intracytoplasmic sperm injection after radiotherapy-induced azoospermia.

    A 27-year-old male, who underwent excision and radiotherapy for a pineal gland germinoma four years previously, subsequently developed panhypopituitarism and, thus, complete azoospermia. Gonadotrophin replacement therapy resulted in the production of a small number of motile spermatozoa which were used for Intracytoplasmic Sperm Injection (ICSI) into oocytes obtained from his wife. After successful fertilization and embryo transfer, a singleton intrauterine pregnancy was achieved which resulted in the normal delivery of a morphologically normal male live infant at term.
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2/15. Cytologic diagnosis of true thymic hyperplasia by combined radiologic imaging and aspiration cytology: a case report including flow cytometric analysis.

    True thymic hyperplasia (TH) is an age-dependent increase in size and weight of the thymus gland, which by definition maintains a normal histologic architecture. TH can mimic other important diseases, including lymphofollicular hyperplasia, thymoma, lymphoma, and germ-cell tumors. Traditionally, separating these entities has required a formal surgical biopsy. Given that many of these conditions occur in children, this can be a traumatic experience for both the patient and family members. Fine-needle aspiration biopsy has the distinct advantage of being able to obtain diagnostic material without requiring general anesthesia. We are aware of only one previously reported case of an enlarged thymus being subjected to aspiration cytology. We therefore present a case of thymic hyperplasia in a 5-mo-old child diagnosed by combined radiologic and cytologic parameters, including flow cytometric analysis.
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3/15. Lymphocytic hypophysitis masking a suprasellar germinoma in a 12-year-old girl--a case report.

    Case history, light and electron microscopic findings of a case of a lymphocytic hypophysitis in coincidence with a suprasellar germinoma in a 12-year-old girl are reported. The girl presented with a long time case history of diabetes insipidus and subsequent panhypopituitarism. Two years after the diagnosis of diabetes insipidus magnetic resonance imaging (MRI) showed a tumorous enlargement of the sellar content and pituitary stalk. A transnasal exploration was initially performed and revealed a lymphocytic hypophysitis. light microscopy showed a dense infiltration of mature lymphocytes and plasma cells in the interstitium of the anterior pituitary gland. The stalk area could not be exposed to exclude a germinoma. One year later the lesion relapsed despite dexamethason therapy and a second operation by another neurosurgeon had to be performed. light microscopy showed lymphocytic infiltrates, fibrosis and necrosis. The diagnosis was a lymphocytic hypophysitis again. Though transcranially exposed only pituitary tissue was removed. No infundibular mass became visible at surgery as shown by MRI. The girl developed five months later multiple cerebral lesions, which revealed to be a germinoma. Lymphocytic hypophysitis in children is very rare and a coincidence with a germinoma has not been described from histopathological aspect until now. The origin of the pituitary infiltration is discussed.
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4/15. Neurohypophyseal germinoma traced from its earliest stage via magnetic resonance imaging: case report.

    BACKGROUND: We report a case in which magnetic resonance imaging (MRI) documented the formation of a neurohypophyseal germinoma from its earliest stage. CASE DESCRIPTION: A 9-year-old girl presented with polyuria, polydipsia, and growth retardation. Urinary and endocrinological examination indicated diabetes insipidus (DI) and growth hormone deficiency. No clear evidence of a mass in the hypothalamo-pituitary area was apparent on the first MRI scan. Follow-up MRIs and endocrinological examinations revealed that a tumor, arising from the stalk and posterior lobe of the pituitary gland, formed a mass and caused anterior pituitary function to deteriorate. Histologic diagnosis was germinoma based on open biopsy. CONCLUSION: Radiologic findings in this case indicated the primary site of this intrasellar germinoma to be the hypothalamo-neurohypophyseal region, designating this a "neurohypophyseal germinoma."
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5/15. Successful treatment of extracranially metastasized pineal gland germinoma with high-dose methotrexate.

    germinoma of the pineal gland is a rare disease usually confined to the brain which responds well to radiotherapy. Spinal seeding occurs in approximately 4% of cases and distant metastases are extremely rare. We report on a 27-year-old female with an intracranially metastasized pineal gland germinoma, meningeal carcinomatosis and distant bone metastases. Treatment was initiated with intrathecal methotrexate (MTX) and continued with high-dose intravenous MTX. The therapy was very well tolerated apart from reversible hepatic toxicity requiring a dose reduction. The patient was in complete remission after three courses followed by two consolidation cycles; the patient has now been in continuous complete remission for more than 22 months. This is the first report to show that MTX is a potent drug in treating pineal gland germinoma. Long-term side effects of radiotherapy such as reduced mental function or hypopituitarism can probably be avoided. Single-agent high-dose MTX may provide high efficacy with limited adverse effects, especially at a more advanced tumor stage with spinal seeding and extracranial disease.
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6/15. germinoma with synchronous involvement of the pineal gland and the suprasellar region: a treatable cause of visual failure in a young adult.

    Germinomas constitute 0.1-3.4% of all intracranial tumours and 90% affect patients less than 20 years old. Although they are relatively aggressive tumours, which commonly invade the surrounding tissue and seed within the central nervous system, they are very radiosensitive and carry a favourable prognosis. We describe a 19-year-old man who presented with bilateral visual failure secondary to a germinoma with synchronous involvement of the pineal gland and the suprasellar region. radiotherapy restored his vision almost back to normal.
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7/15. Malignant transformation of atypical endometrial hyperplasia after progesterone therapy showing germ-cell tumor-like differentiation.

    A 31-year-old woman was treated for atypical endometrial hyperplasia (AEH) with high-dose medroxyprogesterone acetate (MPA) therapy to preserve fertility. The AEH was found by repeated cytologic and histologic examinations to have completely disappeared with the therapy, but 3 years after her last follow up she required emergency surgery to treat severe genital bleeding. The hysterectomied uterus consisted mostly of poorly differentiated adenocarcinoma, G3 endometrioid type. Minor AEH was present in the exophytic area, in which some glands were cystically dilated. Part of the AEH had transformed into other histologic features with germ-cell-like differentiation, demonstrated by immunohistochemical positive reaction of placental alkaline phosphatase, alpha-fetoprotein, and human chorionic gonadotrophin. Recurrent AEH had undergone malignant transformation, resulting in the development of well- and poorly differentiated adenocarcinoma and tumor exhibiting germ-cell-like differentiation. The patient died of a massive tumor extension 7 months after surgery. The AEH before MPA therapy and the recurrent tumors had genetically different characteristics based on evidence of a loss of heterozygosity, detected at D8S1132 (chromosomal locus, 8q22.1) in the latter but not in the former, by analysis of genetic alterations using microsatellite markers.
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8/15. Lymphocytic hypophysitis with central diabetes insipidus and subsequent hypopituitarism masking a suprasellar germinoma in a 13-year-old girl.

    CASE REPORT: We report a case of central diabetes insipidus, hypothyroidism, and subsequent hypopituitarism due to lymphocytic hypophysitis masking a germinoma in a 13-year-old pubertal girl. Magnetic resonance revealed an enlarged pituitary gland and a mass lesion in the pituitary stalk and inferior hypothalamus. Open cranial surgery of the anterior pituitary showed active hypophysitis with lymphocytic infiltrates but without necrosis. Despite prednisolone therapy, 1 year later an enlarged, irregular cystic mass lesion had developed; in the pituitary stalk and inferior hypothalamus, a endoscopic biopsy revealed germinoma. CONCLUSION: Lymphocytic hypophysitis in children may be the first sign of a host reaction to an occult germinoma. The diagnosis of central diabetes insipidus with a thickened pituitary stalk requires long-term follow-up to establish the underlying cause.
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9/15. Intra- and suprasellar germinoma mimicking a pituitary adenoma--case report.

    A 25-year-old female presented with amenorrhea and bitemporal hemianopsia without diabetes insipidus due to an intra- and suprasellar dumbbell tumor. The preoperative and operative diagnosis was pituitary adenoma, but the histological diagnosis was germinoma. Differential diagnosis between germinoma and pituitary adenoma based on computed tomograms and magnetic resonance (MR) imaging features and signal intensity characteristics was difficult in this patient. An enhanced mass posterior to the normal pituitary gland on the mid-sagittal MR image normally indicates an intrasellar germinoma rather than a pituitary adenoma, but this finding was equivocal in our patient.
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10/15. Robb-Smith type malignant histiocytosis associated with a mediastinal germ cell tumor.

    A 22-year-old Japanese man with a mediastinal germ cell tumor with mixed teratoma and hepatoid alpha-fetoprotein positive, and glandular yolk sac components, also demonstrated widely disseminated malignant histiocytosis involving the lungs, liver, pancreas, spleen, bone marrow and lymph nodes. Sensitivity to chemotherapy was acute and the patient died of disseminated intravascular coagulation syndrome within four months of his initial presentation.
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