Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0677930 (primary tumor)
 20,210 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ovarian tumors from two patients, compatible by histological and immunohistochemical criteria with small cell carcinoma of hypercalcemic type (SCCHT) (WT1+, EMA dispersed+, synaptophysin+ or dispersed+), were extensively sampled in order to find clues to their histogenesis. Subsequently, small foci of immature teratoma were found in both of them (in 1/122 and in 3/80 tumor sections). In one case, microfoci of yolk sac tumor were also present within the teratoma area as well as in the background of the small cell tumor population - in the primary tumor and in omental metastasis. We found a resemblance of the microscopic patterns of SCCHT and atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system, and this prompted us to evaluate INI-1 and SMARCA4 immunohistochemical expression, because their alternative loss is regarded as a molecular hallmark of AT/RT. INI-1 expression was retained, while that of SMARCA4 was lost. We therefore analyzed tumor DNA by PCR amplification and sequencing for mutations in the SMARCA4 gene (NG_011556.1), which were identified in both tumors (c.2184_2206del; nonsense c.3277C>T - both in one tumor; nonsense c.3760G>T in another tumor). These data suggest that SCCHT is most likely an embryonal tumor originating from immature teratoma and related to malignant rhabdoid tumor. Further analyses are necessary to determine whether the tumors diagnosed as SCCHT constitute a homogeneous group or represent more than one entity.
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PMID:Ovarian small cell carcinoma of hypercalcemic type - evidence of germline origin and SMARCA4 gene inactivation. a pilot study. 2437 37

Atypical teratoid/rhabdoid tumor (AT/RT) is an uncommon, high-grade pediatric malignancy of the central nervous system (CNS) that rarely metastasizes outside the CNS (Chang stage M4). We describe a child with the sole metastasis of an AT/RT to an axillary lymph node and no other site of extra-CNS disease at presentation. The tumor included areas of rhabdoid cells and failed to express the SMARCB1 gene product (INI1). The metastatic site in this patient is unusual for 3 reasons: (1) it is anatomically unexpected for a CNS tumor, (2) no other extra-CNS metastasis or primary tumor outside the CNS was found, and (3) no cardiac septal defect or vascular anomaly was identified. This site as the presenting lesion and sole metastasis of an intracranial AT/RT has not been previously reported. We attempt to explain this phenomenon.
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PMID:Intracranial atypical teratoid/rhabdoid tumor presenting as an axillary mass: a case report and review of literature. 2455 76