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

Abstract

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) was presented. An 18-month-old-boy was admitted with virilization of the genital area, penis enlargement and erection, which had begun six months 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, histopathological examination revealed an oncocytic variant ACC. Three-month after surgery, he then presented with 6x8 cm sized swelling of the left leg. Histopathological examination revealed embryonal RMS. Testing for tumor protein (TP53) variant by DNA sequence analysis was positive; however; fluorescence in situ hybridization analysis was negative. After chemotherapy and local radiotherapy, the patient is in good condition without tumor recurrence. Only about one-third of these tumors 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 tumor suppressor genes or new variants. Another as yet unidentified suppressor gene may 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 tumors to detect malignancy early.

Adrenocortical Carcinoma: Updates of Clinical and Pathological Features after Renewed World Health Organisation Classification and Pathology Staging

“…The first case of oncocytic ACC was confirmed in 1991 by electron microscopy showing the closely packed mitochondria in an ACC from a 56-year-old man [ 112 ]. Up to the year 2020, there were 56 cases of oncocytic ACC in the adrenal gland with documented features in the English literature [ 112 , 113 , 114 , 115 , 116 , 117 , 118 , 119 , 120 , 121 , 122 , 123 , 124 , 125 , 126 , 127 , 128 , 129 , 130 , 131 , 132 , 133 , 134 , 135 , 136 , 137 ]. Apart from these cases, a giant ectopic oncocytic ACC (280 mm in greatest dimension; 2250 g in weight) have been reported in a 26-year-old Hispanic woman in tissue around the left adrenal gland and kidney {Wadhwani 33,281,927} [ 138 ].…”

“…There are only 2 patients with oncocytic ACC in the paediatric group. They are both sex hormone producing oncocytic ACC; one is an 18-month body with androgen production tumour and co-existing rhabdomyosarcoma [ 137 ] and one is a 19-year-old female with testosterone secreting [ 124 ]. The oldest case of oncocytic ACC was noted in an 83-year-old female with non-functioning oncocytic ACC [ 130 ].…”

Case Report: Adrenocortical carcinoma in children—symptoms, diagnosis, and treatment

“…ACT are more common in women, with a proportion of 1.4:1. This rate varies according to age, but remains higher in women (2,4,5), especially in malignant adreno-cortical carcinomas; however, there are certain subtypes of ACC, such as oncocytic, with no preference for any sex (6).…”

“…The majority of ACT and ACC are sporadic; however, there is an increased risk of developing the tumour in patients with genetic syndromes such as Li Fraumeni syndrome, Beckwith-Wiedemann syndrome, multiple endocrine neoplasia type 1 (MEN-1), familial adenomatous polyposis, and other hereditary cancers (6,9,10).…”

Oncocytic adrenocortical tumour presenting as an incidentaloma: a diagnostic challenge

“…Oncocytic adrenocortical neoplasms (OAN) are a rare histopathological subtype of adrenocortical tumours, accounting for around 10% of adrenocortical neoplasms 1. An incidence of 0.72 per million population annually has been reported for oncocytic adrenocortical carcinoma (ACC) 2. They are usually large, yellow-tan tumours with focal fatty areas.…”