Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The homeodomain transcription factor, NANOG, along with OCT3/4 (POU5F1) and SOX2, is part of the core set of transcription factors that maintain embryonic stem cell self-renewal and pluripotency. Expression of NANOG has been detected in fetal germ cells and in gonadal germ cell tumors. To assess the diagnostic utility of NANOG in central nervous system (CNS) germ cell tumors, we analyzed its expression by immunohistochemistry in a series of 12 CNS germinomas and compared its expression with other stem cell markers. Strong nuclear expression of NANOG was demonstrated in >90% of the tumor cells in all cases. In contrast, expression of OCT3/4 and placental alkaline phosphatase was inconsistent and SOX2 was expressed in only rare cells. NANOG was not detected in tumor types frequently considered in the differential diagnosis of CNS germinoma: pineoblastoma, primitive neuroectodermal tumors, medulloblastoma, lymphoma, pituitary adenoma, atypical teratoid/rhabdoid tumor, Langerhans cell histiocytosis, and gliomas. These findings demonstrate that NANOG is a sensitive and specific marker of CNS germinoma. Compared with other currently used markers, NANOG may have superior diagnostic characteristics and can facilitate identification of germinomas in minute surgical biopsies commonly obtained from these tumors. These findings also suggest a potential biologic role for NANOG in maintenance of CNS germinoma.
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PMID:Comparative analysis of germ cell transcription factors in CNS germinoma reveals diagnostic utility of NANOG. 1712 19

Malignant extraconal orbital tumors are very rare during childhood and must be referred as soon as possible to a highly specialized center to be managed by a multidisciplinary team. They are often referred on an emergency basis. Both diagnosis and treatment must be undertaken as soon as possible. The course of these malignant tumors can be acute and can jeopardize the function of the eye or be life-threatening, especially in the event of metastatic locations. Extra-axial proptosis is by far the most frequent revealing symptom. Local and general examinations are of utmost importance. Sometimes diagnosis should be clear with the association of an orbital tumor and deterioration of the general health status favoring metastatic disease. Most metastatic neuroblastomas present such clinical symptoms in young children. Today both CT and MRI are highly valuable in assessing the diagnosis and starting the management of these tumors. Biopsy is mandatory to confirm the diagnosis. It can be reinforced by molecular biology. Among the primitive tumors, soft tissue sarcomas, especially rhabdomyosarcomas, are the most frequent. The diagnosis is suggested when the onset of the disease is acute and the course is rapid. Most respond to neoadjuvant chemotherapy. In the event of a residual tumor, local treatment is indicated so that surgery and/or radiotherapy are used as second-line treatment. Prognosis is closely related to histology. It can be satisfactory (Langerhans' cell histiocytosis, lymphoma, meningioma, infantile fibrosarcoma) or poor (metastatic tumor, rhabdoid tumor).
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PMID:[Malignant extraconal tumors of the orbit in childhood]. 2030 50

Two hundred eight neonates with malignant tumors and cutaneous metastases were reviewed. Malignancies most often associated with cutaneous metastases, in order of rank, were leukemia, multisystem Langerhans cell histiocytosis, neuroblastoma, rhabdoid tumor, rhabdomyosarcoma, primitive neuroectodermal tumor, choriocarcinoma, and adrenocortical carcinoma. Bluish skin nodules producing the "blueberry muffin baby"-like appearance were the most common dermatologic finding in 171, or 82% of 208 neonates. The tendency of newborns to present with skin nodules is one of the significant differences between malignancies in younger and older children. Patients with rhabdoid tumor and rhabdomyosarcoma had the lowest survival rates, 4% and 15%, respectively, compared with leukemia, 37.5%, and neuroblastoma, 58%. Overall survival was 39%.
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PMID:Cutaneous metastases in neonates: a review. 2150 42

Bone and soft-tissue sarcomas comprise a rare, complex, and heterogeneous group of tumors for which it is difficult for even experienced pathologists to provide a conclusive diagnosis. The number of diagnoses made using genetic analysis has increased since the detection of fusion genes in several soft-tissue tumors in the 1990s. Moreover, other specific genetic aberrations have been reported in various bone and soft-tissue tumors. In addition, molecular therapeutic targets have been sought in advanced cases of soft-tissue and bone tumors similar to other organ malignancies. To enable the pathological diagnosis of bone and soft-tissue tumors, it is necessary to combine histological diagnosis with immunohistochemistry and gene analysis findings including fusion gene or other genetic aberrations. In this review, we describe the fusion genes recently reported in bone and soft-tissue tumors such as solitary fibrous tumor, aneurysmal bone cyst, nodular fasciitis, CIC-DUX4 fusion gene-positive small round cell tumors, or BCOR-CCNB3-positive sarcoma as well as other genetic aberrations in dedifferentiated liposarcoma, malignant rhabdoid tumor, cartilaginous tumor, Langerhans cell histiocytosis chondroblastoma, or giant cell tumor of the bone. We also demonstrate their association with pathological diagnosis.
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PMID:[Genetic Aberration and Pathological Diagnosis in Bone and Soft-Tissue Tumors]. 2706 46