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Journal of Pediatric Surgery (2010) 45, 2244–2246

Serous borderline tumor of the fallopian tube in a patientwith Klippel-Trenaunay syndromeDaniel Stephens a,⁎, Srikumar Pillai b, Elaine Chamc,Robert Arensmand, Pauline Chou c

aDepartment of Surgery, University of Minnesota, Minneapolis, MN 55405, USAbJohn H Stroger Jr. Hospital of Cook County, Chicago, IL 60612, USAcChildren's Memorial Hospital, Chicago, IL 60614, USAdUniversity of Illinois at Chicago, Chicago, IL 60612, USA

Received 7 April 2010; revised 24 June 2010; accepted 25 June 2010

0d

Key words:Klippel-Trenaunaysyndrome;

Hemihypertrophy;Serous borderline tumor;Gynecologic malignancy;Malignancy

Abstract We describe a case of a 3-year-old girl with Klippel-Trenaunay syndrome who presented withan enlarging abdominal mass caused by a serous borderline tumor of the fallopian tube. This case isnotable for the rarity of this neoplasm in a premenarchal patient as well as the association with thissyndrome. We briefly review these entities and the significance of malignancy in Klippel-Trenaunaysyndrome.© 2010 Elsevier Inc. All rights reserved.

precocious puberty. Excision was recommended; however,

1. Case report

A 3-year-old girl with a diagnosis of Klippel-Trenaunaysyndrome (KTS) initially presented to our clinic at the age of18 months with complaints of abdominal fullness. Thediagnosis of KTS had been made based on the findings of (1)hemihypertrophy of the right lower extremity with a 9-cm leglength disparity resulting in thoracic scoliosis and macro-dactyly of multiple digits bilaterally; (2) presence of markedhyperpigmentation of the right face, neck, and right arm andverrucoid lesions consistent with a cutaneous hemangioma;and [3] a large varicose vein on the right leg extendingproximally to the knee. At this time, the patient was noted tohave a palpable abdominal mass; and computed tomography(CT) revealed a cystic adnexal mass. There were no signs of

⁎ Corresponding author. Tel.: +1 312 714 5575; fax: +1 312 435 9003.E-mail address: daniel.stephens@gmail.com (D. Stephens).

022-3468/$ – see front matter © 2010 Elsevier Inc. All rights reserved.oi:10.1016/j.jpedsurg.2010.06.043

in the absence of other symptoms, the patient's parentrefused surgical intervention at this time.

The patient was followed in the outpatient clinic, and asecond CT scan of the abdomen was performed 18 monthslater. This study showed enlargement of the mass from 5.5 ×5.0 × 4.4 to 7.3 × 6.0 × 6.0 cm (Fig. 1). In this interimperiod, the patient also developed complaints of abdominalfullness and early satiety. Because of these symptoms, theparent sought and consented to treatment. Laboratoryevaluation showed a serum human chorionic gonadotropinlevel of less than 0.6 mIU/mL and a serum α-fetoproteinlevel of 5.81 ng/mL.

The patient underwent exploratory laparotomy, whichrevealed a large cystic mass originating from the left ovary/fallopian tube and a normal right ovary and fallopian tube.Left salpingo-oophorectomy was performed (Fig. 2). Patho-logic evaluation revealed a serous borderline tumor of thefallopian tube with a noninvasive implant on the ovary. The

Fig. 1 Axial CT scan of the pelvis showing large cysticadnexal mass.

2245Tumor of the fallopian tube in a patient with KTS

postoperative course was uneventful, and the patient wasdischarged home. The patient has made normal developmen-tal milestones at the last follow-up, and annual ultrasoundstudies for monitoring have shown no sign of recurrence.

2. Brief pathologic description

Histologic sections showed portions of a cystic-likedilated fallopian tube lined by hyperplastic epitheliumforming branching fibroedematous stalks and micropapillaewith detached cell clusters (Fig. 2A). The tumor formedepithelial papillae with a dramatic, complex hierarchicalbranching pattern, without destructive stromal invasion(Fig. 2B). A section of fallopian tube adherent to the ovaryshowed noninvasive micropapillae associated with psam-moma bodies (Fig. 2C). The lesion showed mild to moderatecellular atypia. Mitotic activity was low. No destructivestromal invasion was seen. These histologic findingscorrespond to a serous borderline tumor of the fallopiantube with a noninvasive implant on the ovary.

ig. 2 (A) Portion of a cystic-like dilated fallopian tube lined byyperplastic epithelium forming micropapillae (hematoxylin andosin [H&E] 4×). (B) The tumor shows epithelial papillae with aramatic, complex hierarchical branching pattern, without destruc-ve stromal invasion (H&E 10×). (C) Cystic space with micro-apillae associated with psammoma bodies in a section of fallopianbe adherent to the ovary (noninvasive implant) (H&E 10×).

3. Discussion

Klippel-Trenaunay syndrome is a rare entity described asthe association of cutaneous capillary nevi, early-onsetvaricosities, and hypertrophy of tissues on the affectedlimb [1]. The diagnosis is made clinically; and someconfusion and overlap exist in the literature regarding thisdiagnosis, Proteus syndrome, and other overgrowth syn-dromes [2]. There is no known relation between this

Fhedtiptu

2246 D. Stephens et al.

syndrome and any malignancy. The coexistence of Wilmstumor in patients with hemihypertrophy and Beckwith-Wiedemann syndrome is well described; however, 2 authorssuggest that there is no increased risk of Wilms tumor inpatients with KTS [2,3]. This may be in part because of therarity of KTS and the apparent confusion and overlap in thediagnosis of overgrowth syndromes [3]. A review of theliterature revealed cases of KTS in association with Wilmstumor, carcinoma of the esophagus, multiple myeloma, basaland squamous cell carcinoma, angiomyolipoma, angio-sarcoma, Hodgkin disease, rhabdomyosarcoma, and astrocy-toma [4,5,6,7]. In addition, there is at least one unpublishedcase of KTS with Wilms tumor at these authors' institution.

This case is also notable for the occurrence of a serousborderline tumor of the fallopian tube in a premenarchalpatient. This tumor commonly occurs in women of child-bearing age and is rarely reported in this age group, but has atleast once been reported in a 4-year-old girl [8,9].

4. Conclusions

Klippel-Trenaunay syndrome is a relatively rare syn-drome; and as such, the precise association with anymalignancy is unknown. There is no definitive proof of acoexistence with Wilms tumor at this time; however, thismay clearly be an issue of low incidence, reporting, andconfusion in diagnosis [2]. The etiology of KTS is poorlyunderstood; and the wide variety of apparent, but rare,coexisting tumors allows only speculation for a common

pathway [10]. At the least, one must consider malignancy inthe differential diagnosis of patients with KTS who presentwith a suspicious complaint and enlarging mass; but onlyclinical judgment and experience guide screening formalignancy at this time.

References

[1] Berry S, Peterson C, Mize W, et al. Klippel-Trenaunay syndrome. AmJ Genet 1998;79:319-26.

[2] Kundu R, Frieden I. Presence of vascular anomalies with congenitalhemihypertrophy and Wilms tumor: an evidence-based evaluation.Pediatr Dermatol 2003;20:199-206.

[3] Greene A, Kieran M, Burrows P, et al. Wilms tumor screening isunnecessary in Klippel-Trenaunay syndrome. Pediatrics 2004;113:e326-9.

[4] Lapunzina P. Risk of tumorigenesis in overgrowth syndromes: acomprehensive review. Am J Med Genet C Semin Med Genet2005;137C(1):53-71.

[5] Aygencel G, Demiroglu H. Hodgkin's disease in a patient withKlippel-Trenaunay syndrome. N Z Med J 1997;110:133.

[6] Robertson D. Klippel-Trenaunay syndrome and rhabdomyosarcoma ina 3-year old. Arch Ophthalmol 2003;121:727-9.

[7] Howitz P, Howitz J, Gjerris F. A variant of the Klippel-Trenaunay-Weber syndrome with temporal lobe astrocytoma. Acta Paediatr Scand1979;68(1):119-21.

[8] Norris H, Jensen R. Relative frequency of ovarian neoplasms inchildren and adolescents. Cancer 1972;30(3):713-9.

[9] Njim L, Moussa A, Saidani Z, et al. Bilateral ovarian serous borderlinetumor with a giant non-invasive peritoneal implant in a four-year-oldgirl. J Pediatr Adolesc Gynecol 2010;23(1):e1-4.

[10] Baskerville PA, Ackroyd JS, Browse NL. The etiology of the Klippel-Trenaunay syndrome. Ann Surg 1985;202(5):624-7.