Two Subsequent Metachroneus Solid Tumors: Oncocytic Variant Adrenocortical Carcinoma and Rhabdomyosarcoma of Childhood: Case Report and Literature Review

Özet

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 (RMS) waspresented. An 18-month-old-boy was admitted with virilization of the genital area, penis enlargement and erection, which had begun sixmonths earlier. Serum total testosterone (457 ng/dL; NR <10), androstenedione (3.35 ng/mL; NR <0.5) and dehydroepiandrosterone-SO4 (206 mcg/dL; NR<35) were above the normal ranges. Right adrenal mass was detected. After adrenalectomy, histopathologicalexamination revealed an oncocytic variant ACC. Three-month after surgery, he then presented with 6x8 cm sized swelling of the leftleg. Histopathological examination revealed embryonal RMS. Testing for tumor protein (TP53) variant by DNA sequence analysis waspositive; however; fluorescence in situ hybridization analysis was negative. After chemotherapy and local radiotherapy, the patient is ingood condition without tumor recurrence. Only about one-third of these tumors have a variant of TP53. This status also applies to othergenetic variants related to cancer. However, a significant association of malignancies strongly suggests a problem in tumor suppressorgenes or new variants. Another as yet unidentified suppressor gene may also be present and effective in this locus. The occurrence ofACC as a part of a syndrome and positive family history of malignancies in patients are clinically important. These patients and theirfamilies should be scanned for genetic abnormalities. The patient with ACC should be followed-up carefully for other tumors to detectmalignancy early.