Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P43146 (tumour suppressor)
 5,935 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Most cases of malignancies appear to be sporadic, but some syndromes are associated with malignancies with germline variants. Herein, a child with an unusual association of oncocytic variant adrenocortical carcinoma (ACC) and rhabdomyosarcoma was presented. An 18-month-old-boy was admitted with virilization of the genital area, penis enlargement, and erection which had begun six months ago. Serum total testosterone: 457 ng/dl (<10), androstenedione: 3.35ng/ml (<0.5) and DHEA-SO4: 206 mcg/dl (<35) were measured higher than normal ranges. Right adrenal mass was detected. After adrenalectomy, histopathological examination revealed oncocytic variant ACC. Three-month later from surgery, the child then presented with 6x8 cm sized swelling of the left leg. Histopathological examination revealed embryonal RMS. Testing for tumour protein (TP53) variant by DNA sequence analysis was positive; however; FISH analysis was negative. After chemotherapy and local radiotherapy, the patient is in good condition without tumour recurrence. Only about one-third of these tumours have a variant of TP53. This status also applies to other genetic variants related to cancer. However, a significant association of malignancies strongly suggests a problem in tumour suppressor genes or new variants. Another suppressor gene that is yet unidentified can also be present and effective in this locus. The occurrence of ACC as a part of a syndrome and positive family history of malignancies in patients are clinically important. These patients and their families should be scanned for genetic abnormalities. The patient with ACC should be followed-up carefully for other tumours to detect malignancy early.
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PMID:Two subsequent metachroneus solid tumors: Oncocytic variant adrenocortical carcinoma and rhabdomyosarcoma of childhood: Case report and Literature Review. 3253 19