Cases reported "ganglioneuroma"

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1/447. 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. ( info)

2/447. Lhermitte-Duclos disease as a component of Cowden's syndrome. Case report and review of the literature.

    In recent years, 16 cases involving the association between Lhermitte-Duclos disease (LDD), which is a hamartomatous overgrowth of cerebellar tissue, and Cowden's syndrome (CS), an autosomal-dominant condition characterized by multiple hamartomas and neoplasias, have been reported. LDD may be one of the manifestations of CS. Recently, mutations of the PTEN/MMAC 1 gene, a tumor suppressor gene, have been found in families with CS, including four patients in whom LDD was diagnosed. The authors present a case of LDD in a 53-year-old woman who also had the typical mucocutaneous lesions found in CS, as well as goiter and intestinal polyposis. In this case, CS had never been suspected until the diagnosis of LDD was made. The mutation detected in the PTEN/MMAC 1 gene as well as neuropathological results are described. ( info)

3/447. 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. ( info)

4/447. Simultaneous involvement of the jejunum and the colon by type-1 neurofibromatosis.

    Type-1 neurofibromatosis (NF-1) or Von Recklinghausen disease is an autosomal dominant hereditary condition that may affect the gastrointestinal tract in 25% of cases and which takes three main forms: ganglioneuromatosis, stromal tumors, and tumors in the duodenum and periampullar region. Not infrequently, these patients present with gastrointestinal bleeding. We present the case of a 48-year-old patient diagnosed as having NF-1, with relapsing episodes of gastrointestinal hemorrhage, in which we discovered the simultaneous presence of a stromal tumor in the jejunum together with polypoid and diffuse ganglioneuromatosis in the colon. ( info)

5/447. Ganglioneuromatous polyposis of the colon associated with adenocarcinoma and primary hyperparathyroidism.

    A rare case of ganglioneuromatous polyposis of the colon found in association with mucinous adenocarcinoma and primary hyperparathyroidism caused by a parathyroid adenoma in a 77-year-old woman is described. We discuss the clinical implications of this finding and review the literature. ( info)

6/447. Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2b: implications for treatment.

    Three infants, who presented with intestinal obstruction due to diffuse transmural intestinal ganglioneuromatosis, are described. mutation analysis of exon 16 of the RET proto-oncogene revealed germline M918T and thus, a molecular diagnosis of multiple endocrine neoplasia type 2b (MEN 2B). Two infants developed medullary carcinoma of the thyroid. The third had a prophylactic thyroidectomy despite no obvious thyroid masses and normal calcitonin concentrations, but microscopic multifocal medullary carcinoma was found on histological examination. Early recognition of intestinal ganglioneuromatosis with germline RET M918T mutation in pseudo-Hirschsprung's disease is an indication for prophylactic thyroidectomy. ( info)

7/447. Adnexal-centered giant congenital melanocyte nevus with extensive ganglioneuromatous component and trisomy 7.

    Adequate interpretation of clinical and histopathologic features of giant congenital melanocytic nevus (GCMN) in newborns is a continued challenge. A GCMN with three large nodules and three polypoid exophytic tumors presented in the dorsum of a female full-term newborn, the borders exhibiting a spotted grouped pattern. Microscopic examination revealed a peculiar adnexal-centered (eccrine sweat gland ducts, acrosiringia, and hair infundibula) compound nevus expressing pagetoid intraepidermal spreading of epithelioid melanocytes. The nodules represented an extensive ganglioneuromatous component. The neurons and their neuropil were positive for neuron-specific enolase, S-100, synaptophysin, tyrosine hydroxilase, and PGP 9.5. In addition to these components, a poorly differentiated, fusiform, low-mitotic rate population of cells undergoing epithelioid differentiation (and probably neuronal differentiation) with nodular arrangement was also present in the polypoid tumors and deeper parts of the nevus, in part intermixed with the neurons. These cells were vimentin positive but S-100 negative. FISH studies revealed these cells to express three signals for the centromeric probe for chromosome 7 whereas the neuronal component showed just two. Adnexal-centered arrangement of melanocytes has not been emphasized in GCMN. Ganglioneuromatous differentiation has been rarely reported in this condition. trisomy 7 in GCMN has been reported only once previously. ( info)

8/447. Retroperitoneal ganglioneuroma: report of a case diagnosed by fine-needle aspiration cytology, with review of the literature.

    A case of ganglioneuroma presenting as a retroperitoneal mass in a 5-yr-old girl was diagnosed by preoperative fine-needle aspiration cytology. The cytologic smears predominantly showed clusters of schwann cells, with scattered mature ganglion cells. The cytologic diagnosis of ganglioneuroma was subsequently confirmed on histopathologic examination. To date, very few reports on the cytologic features of this tumor exist. The importance of considering a confident diagnosis by cytology, and of the uncommon age group that may be affected, is stressed. Diagn. Cytopathol. 1999;21:194-196. ( info)

9/447. Ganglioglioneurocytoma of the posterior fossa.

    OBJECTIVE AND IMPORTANCE: Ganglioglioneurocytoma is not yet a well defined clinical and histopathological entity; recent reports outline the histopathological features of this very rare trimorphous tumor, under different names with its basic components of gangliocytoma, neurocytoma and glioma. Four previous reports described this tumor in eleven patients. This is the first case report describing ganglioglioneurocytoma in the posterior fossa. CLINICAL PRESENTATION AND INTERVENTION: A 31-year old male with midline posterior fossa ganglioglioneurocytoma is described, providing the neuroimages and histopathological studies. CONCLUSION: Ganglioglioneurocytoma is a rare mixed neuronal and glial tumor that can also occur in the posterior fossa. ( info)

10/447. Gangliocytoma masquerading as a prolactinoma. Case report.

    The authors describe the case of a 36-year-old man who presented with bitemporal hemianopsia and a serum prolactin concentration of 1440 ng/ml. magnetic resonance imaging of the pituitary revealed a presumed macroadenoma with suprasellar and temporal lobe extension. Although the patient's prolactin level was lowered to 55 ng/ml by bromocriptine therapy, no tumor shrinkage occurred. Fourteen months later, progression of visual field defects necessitated transsphenoidal resection, which was incomplete. Immunocytochemical analysis of the biopsy tissue was positive for prolactin and, in view of the clinical picture, more detailed analysis was not performed. External-beam radiotherapy was given 2 years later because of enlargement of residual tumor. Subsequently, despite a fall in the serum prolactin concentration to less than 20 ng/ml in response to the course of bromocriptine, the mass displayed further extension into the temporal lobe. Nine years after the patient's initial presentation, he underwent transfrontal craniotomy for sudden deterioration in visual acuity caused by hemorrhage into the mass. No adenohypophyseal tissue was identified in the resected tissue. The mass was composed of dysplastic neurons that were strongly immunoreactive for synaptophysin and neurofilament (indicating neural differentiation) and prolactin. review of the original biopsy specimen indicated that the prolactin-positive cells had striking neuronal morphological characteristics. The final diagnosis in this case is prolactin-secreting gangliocytoma. Although exceedingly rare, this disease must be added to the differential diagnosis in cases of "prolactinoma" when bromocriptine therapy is followed by a marked decline in serum prolactin that is not accompanied by significant tumor shrinkage. Furthermore, in such instances, consideration should be given to "obtaining a biopsy sample prior to electing for radiotherapy. ( info)
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