Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0476089 (endometrial cancer)
 11,379 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Somatic inactivation of PTEN occurs in different human tumors including glioblastoma, endometrial carcinoma and prostate carcinoma. Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, ataxia and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum). Homozygous deletion of Pten causes embryonic lethality in mice. To investigate function in the brain, we used Cre-loxP technology to selectively inactivate Pten in specific mouse neuronal populations. Loss of Pten resulted in progressive macrocephaly and seizures. Neurons lacking Pten expressed high levels of phosphorylated Akt and showed a progressive increase in soma size without evidence of abnormal proliferation. Cerebellar abnormalities closely resembled the histopathology of human Lhermitte-Duclos disease. These results indicate that Pten regulates neuronal size in vivo in a cell-autonomous manner and provide new insights into the etiology of Lhermitte-Duclos disease.
 ...
PMID:Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. 1172 27

Paraneoplastic opsoclonus is well described in neuroblastoma. In the adult oncologic population, opsoclonus is seen usually within the context of opsoclonus-myoclonus ataxia and is associated most strongly with small-cell lung cancer. Patients with paraneoplastic opsoclonus are often seronegative. Patients with gynecologic malignancies are known to be predisposed to paraneoplastic syndromes; however, we describe the first case of paraneoplastic opsoclonus in association with endometrial cancer.
 ...
PMID:Opsoclonus as a suspected paraneoplastic syndrome of endometrial cancer. 2113 58

The development of brain and central nervous system (CNS) metastases from primary gynecologic cancers is an extremely uncommon but deadly process. Through this retrospective case series of patients treated at a single institution from 2004 to 2018, we aim to explore potential clinical patterns of this phenomenon with respect to primary tumor type, histology, and symptomatology. A total of 42 patients were identified with CNS metastases, with 24 patients having endometrial cancer, 9 patients with ovarian cancer, 5 patients with cervical cancer, and 4 patients with gestational trophoblastic neoplasia (GTN). The two most common presenting complaints were headache and ataxia. Most patients (67%) presented with more than one lesion on imaging and the frontal lobe was most likely to be involved. The median age of diagnosis for both primary cancer and CNS metastasis were significantly younger in the GTN group when compared to other cancers. Meningeal involvement was more prevalent in patients with cervical cancer. Over 83% of endometrial cancer patients in this cohort had type II histologies, a significantly higher percentage than that in the general population. While the rarity of CNS metastases in primary gynecologic malignancies precludes routine screening, patients diagnosed with more aggressive histologic subtypes of endometrial and uterine cancers may benefit from a lowered threshold of brain imaging in the context of new onset neurological symptoms.
 ...
PMID:Clinical characteristics of CNS metastases from primary gynecologic cancers. 3186 33