1/243. Severe Lhermitte-Duclos disease with unique germline mutation of PTEN.Germline mutations in the PTEN gene have recently been identified in some individuals with Cowden disease (CD), Lhermitte-Duclos disease (LDD), and Bannayan-Zonana syndrome. We report on a patient with CD and LDD in whom a unique de novo germline missense mutation is present in the PTEN gene. Direct sequence analysis detected a transitional change (T-->C) at nucleotide 335, resulting in substitution of the amino acid proline for leucine. The mutation is in exon 5, which has been proposed as a "hot-spot" for germline mutations. Comparison of this patient's clinical course with the previously reported cases of CD and LDD shows more extensive and more severe clinical findings than reported previously. Findings in this patient contribute to the current understanding of germline PTEN mutations and clinical outcome.- - - - - - - - - - ranking = 1keywords = germ (Clic here for more details about this article) |
2/243. Intracranial germ cell tumors in children with and without down syndrome.PURPOSE: Two Chinese children with down syndrome affected by intracranial germ cell tumors are described. Because they represent two of eight affected patients in the current series from 1990 to 1996, it is postulated that such occurrence may be more than a coincidental event. patients AND methods: Two children with down syndrome developed germ cell tumors in atypical intracranial sites that affected basal ganglion and cerebellum. The pathology showed germinoma and yolk sac tumor, respectively. These were treated by radical surgical resection and chemotherapy with cisplatin, etoposide, and bleomycin, but without radiotherapy. RESULTS: One patient survived 3 years without radiologic evidence of tumor. The other died from infective complications caused by severe myelosuppression after chemotherapy. CONCLUSIONS: Subtle neurologic manifestations in developmentally handicapped patients with intracranial space-occupying lesions could result in delayed diagnosis. Children with down syndrome suffering from brain tumors may have a higher chance for germ cell tumors. Assay for alpha-fetoprotein and beta-human chorionic gonadotrophin could hasten diagnosis in some cases. This observation and review of literature suggest an increased risk of developing intracranial germ cell tumors in subjects with down syndrome.- - - - - - - - - - ranking = 8.1093333992986keywords = germ cell, germ (Clic here for more details about this article) |
3/243. Spontaneous regression of a residual pineal tumor after resection of a cerebellar vermian germinoma.A case of multiple intracranial germ cell tumor in which a pineal tumor regressed spontaneously after resection of the cerebellar mass is reported. Immunohistochemical staining of the cerebellar mass showed that most of the infiltrating lymphocytes were positive for CD3 and CD8. The anti-Ki-67 monoclonal antibody MIB-1 staining of the resected tumor revealed a high MIB-1 positivity ratio (36.1%) among the large tumor cells, and TUNEL staining demonstrated that positivity in up to 6% of the tumor cells. Possible mechanisms responsible for this spontaneous regression including immunological responses and apoptosis induced by T lymphocytes are discussed.- - - - - - - - - - ranking = 1.5672381034838keywords = germ cell, germ (Clic here for more details about this article) |
4/243. Dysplastic gangliocytoma (Lhermitte-Duclos disease) associated with Cowden disease: report of a case and review of the literature for the genetic relationship between the two diseases.We report a case of dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease, LDD). The patient also had cutaneous and mucosal hamartomas, adenomatous goiter, bilateral breast tumors, and gastrointestinal polyposis, indicating the diagnosis of Cowden disease (CD), the familial hamartoma syndrome. This was a rare sporadic case without any family history of CD, though CD is considered to be an autosomal dominant hereditary disease. Based on a thorough review of the previously reported cases, it is reasonable to consider that CD is inherited in autosomal dominant fashion through a CD gene (PTEN) containing a germline mutation, and that the occurrence of LDD is predicted on an additional somatic hit on the remaining normal CD allele or another unknown gene.- - - - - - - - - - ranking = 0.14285714285714keywords = germ (Clic here for more details about this article) |
5/243. HPV in situ hybridization with catalyzed signal amplification and polymerase chain reaction in establishing cerebellar metastasis of a cervical carcinoma.We report an unusual case of cerebellar metastasis from a cervical adenosquamous carcinoma in which molecular techniques assisted in establishing the correct diagnosis. The patient was a 43-year-old woman with surgically unresectable cervical carcinoma diagnosed 2 years before presenting with neurological symptoms. A magnetic resonance imaging scan showed a large, enhancing cerebellar lesion with significant brain stem compression. The excised cerebellar tumor resembled a small cell carcinoma and was initially not thought to be a metastasis from the cervical adenosquamous carcinoma. in situ hybridization with catalyzed signal amplification and polymerase chain reactions with primers specific for human papilloma virus (HPV) types 16 and 18 were used to determine the relationship between the cervical and the cerebellar neoplasms. A positive signal was present in the nuclei of both neoplasms by in situ hybridization using HPV16/18 dna probes. polymerase chain reaction revealed the presence of HPV-18 DNA sequences in the cervical and cerebellar neoplasms confirming that the cerebellar neoplasm was a metastasis from the cervical primary.- - - - - - - - - - ranking = 20.328312675477keywords = neoplasm (Clic here for more details about this article) |
6/243. Recurrent intracranial Masson's vegetant intravascular hemangioendothelioma. Case report and review of the literature.In the central nervous system, recurrence of intracranial Masson's vegetant intravascular hemangioendothelioma (MVIH) is rare. To the authors' knowledge, only three recurrent intracranial cases have been reported. The authors report the case of a 75-year-old woman with a recurrent left-sided cerebellopontine angle and middle cranial fossa MVIH. When the patient was 62 years of age, she underwent preoperative embolization and subtotal resection of the intracranial lesion followed by postoperative radiotherapy. She was well and free from disease until 9 years postoperatively when she became symptomatic. At 71 years of age, the patient again underwent preoperative embolization and near-gross-total resection of the lesion. Follow-up imaging performed 15 months later revealed tumor recurrence, and she underwent stereotactic gamma knife radiosurgery. At a 2.75-year follow-up review, the patient's imaging studies revealed stable residual tumor. This case report is unique in that it documents the clinical and pathological features, surgical and postoperative treatment, and long-term follow-up review of a patient with recurrent intracranial MVIH and suggests that this unusual vascular lesion is a slow-growing benign tumor rather than a reactive process. Because the pathological composition of the lesion may resemble an angiosarcoma, understanding this benign vascular neoplasm is crucial so that an erroneous diagnosis of malignancy is not made and unnecessary adjuvant therapy is not given.- - - - - - - - - - ranking = 5.0820781688692keywords = neoplasm (Clic here for more details about this article) |
7/243. Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a li-fraumeni syndrome family.li-fraumeni syndrome is an autosomal dominant disorder that is characterized by various types of cancer in childhood and adult cases. Although hereditary TP53 mutation is very rare in different human cancers, it has been frequently reported in li-fraumeni syndrome. On the other hand, hereditary mutations of TP57KIP2, P15INK4B, and P16INK4A, which affect the cell cycle similar to TP53, were observed in some types of cancer. In a Turkish family with the diagnosis of li-fraumeni syndrome, we analyzed the mutation pattern of TP53, P57KIP2, P15INK4B, and P16INK4A in the peripheral blood, and loss of heterozygosity (homo/hemizygous deletion) pattern of TP53 and P15INK4B/P16INK4A in two tumor tissues. The propositus had a seminoma, his daughter a medulloblastoma, and one of his healthy cousins, a TP53 codon 292 missense point mutation (AAA-->ATA; Lys-->Ile) in the peripheral blood cells. Tumor tissue obtained from the propositus with the seminoma revealed loss of heterozygosity in the TP53 gene. In the analyses of tumor tissues from the propositus and his daughter, a P16INK4A codon 94 missense point mutation (GCG-->GAG; Ala-->Glu) was observed with the hereditary TP53 mutation. P16INK4A codon 94 mutation observed in our family is a novel mutation in li-fraumeni syndrome. No other gene alteration in TP53, P57KIP2, P15INK4B, and P16INK4A was observed. Existence of the P16INK4A mutation and the hereditary TP53 mutation with or without loss of heterozygosity in the TP53 gene (seminoma/medulloblastoma) may be evidence for a common mechanism involved in tumorogenesis. The gene alterations in TP53 and P16INK4A genes may be used as tumor markers in our family.- - - - - - - - - - ranking = 0.058287551692638keywords = cancer (Clic here for more details about this article) |
8/243. Cerebellar pleomorphic xanthoastrocytoma in an infant.Pleomorphic xanthoastrocytoma (PXA) is a rare brain tumor and typically occurs in the superficial cerebral hemispheres of young subjects. We report a case of PXA in the cerebellum of a 3-month-old infant in view of its unusual location and age. The patient presented with a 1-month history of upward eyeball gazing difficulty. To the authors' knowledge, this is the first report of occurrence of this neoplasm in the cerebellum of an infant. We report the morphologic and immunophenotypical features, and literature review with regard to the clinicopathologic aspects of a case of unusual PXA.- - - - - - - - - - ranking = 5.0820781688692keywords = neoplasm (Clic here for more details about this article) |
9/243. Muscle bow traction method for dynamic facial reanimation.A muscle bow traction method was developed for dynamic facial reanimation utilizing the masseter muscle and a fascial sling. The principle of this method is that the sling around the muscle pulls the oral commissure laterally and backward by the restoring force of the muscle from its relaxed position to its contracted position. The surgical procedure is simple. The sling is passed around the anterior half of the muscle so that the muscle can be bowed anteriorly at its center by the sling. One end of the sling is sutured to the center of the orbicularis oris and the dermis in front of the nasolabial fold, and the other end is sutured to the lower lip and oral commissure. This method was applied to 3 patients with facial palsy and to 1 patient with oral cancer. The restored motion of the oral commissure ranged from 5 to 8 mm when clenching the jaws. The concept of this method differs from those of other muscle transposition methods for facial reanimation in that the force acts at a right angle to the muscle contraction. The advantage of this method is that it is less invasive to the muscle and is a simpler procedure than other conventional muscle transposition methods.- - - - - - - - - - ranking = 0.019429183897546keywords = cancer (Clic here for more details about this article) |
10/243. hypnosis instead of general anaesthesia in paediatric radiotherapy: report of three cases.PURPOSE: This report proposes hypnosis as a valid alternative to general anaesthesia for immobilisation and set-up in certain cases in paediatric radiotherapy. methods: We report three cases of children who underwent radiotherapy in 1994 and were treated using hypnosis for set-up during irradiation. The first and the second were two cases of macroscopic resection of cerebellar medulloblastoma in which craniospinal irradiation was necessary, while the third patient suffered of an endorbitary relapse of retinoblastoma previously treated with bilateral enucleation, radiotherapy and chemotherapy; in this last situation the child needed radiation as palliative therapy. hypnosis was used during treatment to obtain the indispensable immobility. Hypnotic conditioning was obtained by our expert psychotherapist while the induction during every single treatment was made by the clinician, whose voice was presented to the children during the conditioning. RESULTS: Every single fraction of the radiation therapy was delivered in hypnosis and without the need for narcosis. CONCLUSIONS: hypnosis may be useful in particular situations to prepare paediatric cancer patients during irradiation, when lack of child collaboration might necessitate the use of general anaesthesia and when anaesthesia itself is not possible.- - - - - - - - - - ranking = 0.019429183897546keywords = cancer (Clic here for more details about this article) |
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