From the Archives of the AFIP: Genitourinary Rhabdomyosarcoma in Children

Radiologic-Pathologic Correlation

Abstract Introduction Clinical Features

Pathologic Features Radiologic Features Differential Diagnosis Treatment and Prognosis

Summary Source Information References

Clinical Features

Most rhabdomyosarcomas occur in the absence of an underlying disorder, although cases of rhabdomyosarcoma associated with neurofibromatosis, fetal alcohol syndrome, basal cell nevus syndrome, and congenital central nervous system anomalies have been reported (7,9). No reliable tumor markers have been identified (9).

The median age of presentation for all children with rhabdomyosarcoma is approximately 7 years (3,5). A bimodal age distribution, with a second peak during adolescence, is seen in cases of paratesticular rhabdomyosarcoma (2,10). Most patients with rhabdomyosarcoma of the bladder base are male, and the tumor usually manifests in the first 3 years of life. Rhabdomyosarcoma of the female genital tract typically arises in the vagina during infancy and early childhood but may arise in the cervix during the reproductive years and within the uterine corpus in the postmenopausal years (11). In general, rhabdomyosarcoma is more common in white children than in black children by about 3:1, and 60% of cases occur in boys (3,12).

The clinical presentation of children with genitourinary rhabdomyosarcoma varies with the anatomic subtype. Most patients with bladder or prostate rhabdomyosarcoma come to clinical attention because of a bladder outlet obstruction, which produces abdominal pain and distention; dysuria; and signs of urinary tract infection. Hematuria is unusual (13). Female patients with gynecologic rhabdomyosarcoma present with a vulvar, perineal, or vaginal mass that may prolapse into the introitus or with vaginal bleeding (14). Painless scrotal swelling, often initially ignored, is the most common complaint of patients with paratesticular rhabdomyosarcoma (15). At physical examination, a palpable, nontransilluminating intrascrotal tumor may be accompanied by a bulky abdominal mass that represents retroperitoneal lymphadenopathy (15).

Rarely, patients with rhabdomyosarcoma present with bone pain from skeletal metastases without a clinically evident primary tumor. In a study of 428 children with biopsy-proved rhabdomyosarcoma, four patients had bone metastases demonstrated radiographically, but no primary tumor was found (16).

Abstract Introduction Clinical Features

Pathologic Features Radiologic Features Differential Diagnosis Treatment and Prognosis

Summary Source Information References