Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027819 (neuroblastoma)
 27,800 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Twelve ovarian Sertoli-Leydig cell tumors that contained heterologous elements in the form of skeletal muscle (nine cases), cartilage (seven cases) and neuroblastoma (one case) in either the primary of recurrent specimens are reported. Four of the primary tumors also contained foci of gastrointestinal type epithelium with argentaffin cells identifiable in two of them. The age of the patients ranged from 11-48 years (average, 24 years). Ten patients presented with an abdominal mass, one with abdominal pain and one with acute abdominal symptoms. Five of the patients, two of whom were virilized and one of whom was hirsute, had evidence establishing or suggesting androgen overproduction. All the tumors were unilateral. Four had ruptured preoperatively and two ruptured during the operation. The tumors averaged 18.5 cm in greatest diameter and had extensive areas of hemorrhage and necrosis in half the cases. On microscopic examination the Sertoli-Leydig cell component was poorly differentiated in 11 cases and of intermediate differentiation in one case. In two cases the primary tumor was a poorly differentiated Sertoli-Leydig cell tumor and heterologous elements were identified only in a recurrent mass. Follow-up of ten patients revealed that eight of them had died of tumor from five months to seven years postoperatively.
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PMID:Ovarian Sertoli-Leydig cell tumors with heterologous elements. II. Cartilage and skeletal muscle: a clinicopathologic analysis of twelve cases. 713 38

The relative frequency of ovarian tumors and tumor-like lesions that occur in young females (defined in this article as up to 30 years of age) differs considerably from that seen in older patients. The spectrum of lesions encountered is reviewed, with emphasis on those disproportionately seen in younger patients, particularly primitive germ cell tumors, certain tumors in the sex cord-stromal family, the distinctive tumor known as small cell carcinoma of hypercalcemic type, and selected tumor-like lesions. Comments are made initially on the relative frequency of the various well-known categories of ovarian neoplasia in the first three decades, compared to females overall, and differences within the first three decades are noted. Some of the more noteworthy of these include the occurrence of follicular cysts in neonates due to in-utero maternal stimulation, and the often large size of these lesions, with sometimes dramatic clinical manifestations; the relative rarity of the commonest germ cell tumor of the ovary, the dermoid cyst, in the very early years of life; the peak incidence of all primitive germ cell tumors in the mid to late teens and early 20s; the peak of small cell carcinoma of hypercalcemic type in the early 20s; the preponderance for the juvenile granulosa cell tumor to occur in the first two decades and for one distinctive form of Sertoli-Leydig cell tumor, the retiform variant, to peak at about 15 years of age; the occasional finding of mucinous cystic tumors, usually benign, in the teenage years, and their greater frequency than other surface epithelial neoplasms; a gradual increase in frequency of all types of surface epithelial neoplasia, but particularly mucinous tumors and serous tumors as patients move through the 20s; and the rarity of metastatic neoplasia in the first three decades in general, but with occasional dramatic examples such as some Krukenberg tumors being seen in these years, as may some of the distinctive tumors of the young such as neuroblastoma. Consideration of the gross and microscopic features, and differential diagnosis, of individual neoplasms follows the introductory remarks and emphasizes the importance of gross pathology. An example of the latter is the marked difference in most cases between a dermoid cyst and an immature teratoma, the former being dominantly cystic and the latter dominantly solid, and the latter on average twice as large as the former. Caution should be exercised in entertaining a diagnosis of immature teratoma if a lesion is grossly a typical dermoid cyst. The treacherous shared gross characteristics and age distribution of the dysgerminoma and small cell carcinoma of hypercalcemic type are noted. The rarity of monodermal teratomas and malignant neoplasms such as squamous cell carcinoma arising in dermoid cysts in the first three decades is noted. The distinctive features of two recently described stromal neoplasms, microcystic stromal tumor and luteinized thecomas of the type associated with sclerosing peritonitis, are emphasized as is the varied differential diagnosis of the juvenile granulosa cell tumor and Sertoli-Leydig cell tumor. Sections on ovarian tumors and tumor-like lesions in pregnant patients and tumor-like lesions overall conclude the article.
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PMID:Ovarian tumors and tumor-like lesions in the first three decades. 2544 Jul 19

Pleuropulmonary Blastoma (PPB) is the primary neoplastic manifestation of a pediatric cancer predisposition syndrome that is associated with several diseases including cystic nephroma, Wilms tumor, neuroblastoma, rhabdomyosarcoma, medulloblastoma, and ovarian Sertoli-Leydig cell tumor. The primary pathology of PPB, epithelial cysts with stromal hyperplasia and risk for progression to a complex primitive sarcoma, is associated with familial heterozygosity and lesion-associated epithelial loss-of-heterozygosity of DICER1. It has been hypothesized that loss of heterozygosity of DICER1 in lung epithelium is a non-cell autonomous etiology of PPB and a critical pathway that regulates lung development; however, there are no known direct targets of epithelial microRNAs (miRNAs) in the lung. Fibroblast Growth Factor 9 (FGF9) is expressed in the mesothelium and epithelium during lung development and primarily functions to regulate lung mesenchyme; however, there are no known mechanisms that regulate FGF9 expression during lung development. Using mouse genetics and molecular phenotyping of human PPB tissue, we show that FGF9 is overexpressed in lung epithelium in the initial multicystic stage of Type I PPB and that in mice lacking epithelial Dicer1, or induced to overexpress epithelial Fgf9, increased Fgf9 expression results in pulmonary mesenchymal hyperplasia and a multicystic architecture that is histologically and molecularly indistinguishable from Type I PPB. We further show that miR-140 is expressed in lung epithelium, regulates epithelial Fgf9 expression, and regulates pseudoglandular stages of lung development. These studies identify an essential miRNA-FGF9 pathway for lung development and a non-cell autonomous signaling mechanism that contributes to the mesenchymal hyperplasia that is characteristic of Type I PPB.
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PMID:Fibroblast Growth Factor 9 Regulation by MicroRNAs Controls Lung Development and Links DICER1 Loss to the Pathogenesis of Pleuropulmonary Blastoma. 2597 41

Pleuropulmonary blastoma (PPB), the most common primary malignant neoplasm of the lung in childhood, occurs in the same early age group (0-6 years) as the other more common solid tumors such as neuroblastoma and Wilms tumor. The tumor begins as a cystic lung lesion with the potential over a period of 3-5 years to progress to a high grade multipatterned primitive sarcoma in the absence of a malignant epithelial component. Several years after its initial description as a unique clinicopathologic entity, this and other tumors appeared to have a familial predilection which was later confirmed with the discovery of a heterozygous germline mutation in DICER1 whose protein is a member of ribonuclease III family of enzymes. It is estimated that 75%-80% of children with a PPB have the germline mutation. The other notable finding from our studies is the identification of a family of extrapulmonary neoplasms, including cystic nephroma and Sertoli-Leydig cell tumor of the ovary as two examples, also with DICER1 mutations.
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PMID:Pleuropulmonary Blastoma: More Than a Lung Neoplasm of Childhood. 3152 43