Presence of Vascular Anomalies with Congenital Hemihypertrophy and Wilms Tumor: An Evidence‐Based Evaluation

Abstract

Congenital hemihypertrophy is an uncommon condition of unknown etiology characterized by unilateral overgrowth of part or all of one side of the body. Hemihypertrophy is known to be associated with certain childhood tumors, most notably Wilms tumor (or nephroblastoma), and for this reason infants with hemihypertrophy are often followed with serial abdominal ultrasounds. Klippel-Trénaunay syndrome (KTS) is the triad of port-wine stain, venous varicosities, and soft tissue and/or bony hypertrophy. Children with KTS typically have localized rather than generalized hemihypertrophy, but occasionally the hypertrophy is more extensive than the vascular anomaly itself. Information is lacking about whether hemihypertrophy in this setting can also be a risk factor for Wilms tumor. We systematically reviewed the medical literature to determine whether well-documented cases of Wilms tumor in the setting of both hemihypertrophy and vascular anomalies have been described, and if found, whether the association was sufficiently frequent that routine screening for Wilms tumor in this setting should be recommended. A review of case reports and case series in the pediatric population was undertaken using specific inclusion and exclusion criteria. We found 4 of 58 subjects with hemihypertrophy and Wilms tumor had a reported vascular anomaly, but in only one case was a clear-cut diagnosis of KTS confirmed. The relationship of the other three vascular anomalies reported was of uncertain significance. In conclusion, our review suggests that the risk of Wilms tumor in the setting of localized soft-tissue hypertrophy in conjunction with a vascular malformation is quite low. More extensive hemihypertrophy extending to body sites remote from the vascular malformation itself could have a higher risk of Wilms tumor, although the magnitude of this risk is uncertain. Our findings suggest that routine serial abdominal ultrasounds in patients with vascular malformations in association with localized soft-tissue hypertrophy are unwarranted.

Serous borderline tumor of the fallopian tube in a patient with Klippel-Trenaunay syndrome

“…There is no definitive proof of a coexistence with Wilms tumor at this time; however, this may clearly be an issue of low incidence, reporting, and confusion in diagnosis [2]. The etiology of KTS is poorly understood; and the wide variety of apparent, but rare, coexisting tumors allows only speculation for a common pathway [10].…”

“…The diagnosis is made clinically; and some confusion and overlap exist in the literature regarding this diagnosis, Proteus syndrome, and other overgrowth syndromes [2]. There is no known relation between this syndrome and any malignancy.…”

“…There is no known relation between this syndrome and any malignancy. The coexistence of Wilms tumor in patients with hemihypertrophy and BeckwithWiedemann syndrome is well described; however, 2 authors suggest that there is no increased risk of Wilms tumor in patients with KTS [2,3]. This may be in part because of the rarity of KTS and the apparent confusion and overlap in the diagnosis of overgrowth syndromes [3].…”

“…The diagnosis of KTS had been made based on the findings of (1) hemihypertrophy of the right lower extremity with a 9-cm leg length disparity resulting in thoracic scoliosis and macrodactyly of multiple digits bilaterally; (2) presence of marked hyperpigmentation of the right face, neck, and right arm and verrucoid lesions consistent with a cutaneous hemangioma; and [3] a large varicose vein on the right leg extending proximally to the knee. At this time, the patient was noted to have a palpable abdominal mass; and computed tomography (CT) revealed a cystic adnexal mass.…”

Wilms Tumor Screening Is Unnecessary in Klippel-Trenaunay Syndrome

“…Although some authors consider KTS to be a risk factor for Wilms tumor, 7,26 others do not consider KTS and Wilms tumor to be significantly associated. 27 The incidence of Wilms tumor in North America, Europe, and Australia is estimated to be ϳ1 in 10 000. Patients enrolled in the NWTSG are examined carefully, and all associated anomalies are recorded.…”