CASE REPORTS

MALIGNANT PERIPHERAL NERVE SHEATH TUMOR (MALIGNANT SCHWANNOMA) OF URINARY BLADDER IN VON RECKLINGHAUSEN NEUROFIBROMATOSIS PAUL E. ROBER, M.D. JAMES B. SMITH, M.D., PrI.D. WAEL SAKR, M.D. JAMES M. PIERCE, JR., M.D.

From the Departments of Urology and Pathology, Wayne State University and Harper Hospital, Detroit, Michigan ABSTRACT--Von Recklinghausen neurofibromatosis occurs in 1 in 3,000 live births; however, urologic manifestations are rare. There have been over 40 reported cases oJ neuro]ibroma of the bladder. Malignant degeneration of subcutaneous neurofibroma occurs in about 5 to 10 percent of patients. We believe we present the second reported case of a malignant peripheral nerve sheath tumor involving the bladder in a patient with this disorder.

~!i¸~ ~ Recklinghausen neurofibromatosis is a reidY common congenital disorder . Urolo gie ~ifestations of this disease, however, are ~ e ; We present an unusual ease of a malignant !~annoma involving the bladder in a young ~ with yon Recklinghausen disease

entire body surface. In the suprapubic area, there was a 15-em, round, firm, slightly tender mass which did not decrease in size with placement of a urethral catheter. His admission creatinine was 1.8 mg/dL. The cystogram showed that the bladder was compressed and displaced anteriorly and to the right (Fig. 1). A

Case Report A .~enty-nine-year-old black man known to :affected with von Recklinghausen neurofi6~tosis since birth presented to the emer~ney room of Detroit Receiving Hospital with ~o~ hematuria and a suprapubie mass. The ~i!!tient'sgrandmother, mother, and two other ~gs are known to have had yon Reck~n~tlausen disease. His mother died at age ~ } - o n e of a malignancy involving the head E~hd ~ ~neek, and one sister died at a ge twent Yn~ of a neurofibrosareoma of her brain. The ller Sibling is alive without evidence of ma~ney.

l by ieal examinatio

revealed a thin, short

:ae.kman with innumerable pedunculated and ~i ie subcutaneous neurofibromas through the /

N O V E M B E R 1991

/

FIGURE 1. Cystogram shows compressed and displaced bladder.

V O L U M E XXXVIII, N U M B E R 5

473

FIGURE 2. C T scan shows large pelvic tumor invading posterior wall of bladder with some extension into lumen of bladder. computed tomogram (CT) of the abdomen and pelvis demonstrated a large pelvic mass invading the posterior wall of the bladder, compressing both the bladder and the rectum (Fig. 2). This study also revealed a smaller tumor of obturator fossa and bilateral hydronephrosis. During the course of his hospitalization, this mass was obviously increasing in size. His creatinine continued to rise; obstipation developed. Bilateral percutaneous n e p h r o s t o m y tubes were placed, and he was started on intravenous hyperalimentation. Cystoseopie examination was attempted but was technically impossible due to the distortion of the vesieal neck, however a transperineal biopsy of this mass was done. The biopsy specimen was positive for "sehwannoma, most likely malignant." Further studies including barium enema, multiple x-ray views of the pelvis and lumbosaeral spine, bone scan, and magnetic resonance imaging were performed to determine if there was any invasion of the bowel, bony structures, or lumbar sacral nerve roots. From these studies, it appeared that the tumor involved only the bladder and prostate. After detailed discussion of these findings with the patient and his family, the decision was made to attempt resection of this mass. The bladder with the large tumor adherent to it was excised in total through a lower midline abdominal incision with a pubeetomy. The urine was diverted through an ileal loop. Although the mass was contiguous with the rectum and sacral nerve fibers, it was not invading these structures and with meticulous dissection it was freed from the pelvis.

474

UROLOGY

FIGURE 3. Gross specimen oj and tumor; smaller obturato~ also shown.

The patient tolerated this was discharged home twel Two months following discl mitted with an obvious ab, which was unresectable, an chemotherapy. Pathologic/findings Gross. The posterior "~ was totally replaced by turf 20 x 12 x 9 cm in size. Th~ der was reduced to a slit-lfl tate gland was unidentifiab be totally involved in the tt L i g h t microscopy. The mor was that of a high-gra primarily in numerous inte ing fascicles of spindle cells ten tapered, nuclei and way t o p l a s m . T h e r e w e r e o, palisading nuclei. The tu marked nuclear atypia and totic activity however wa: areas of tumor necrosis wer Electron microscopy. ~[ scopic examination of the tu the sarcomatous nature of cells were elongated with nuclei. The cytoplasm c amounts of rough endopla~, occasional small bundles of definite basal lamina could

/

NOVEMBER

1991

/

VOLUI .......

~URE 4. Hematoxylin-eosin stain showing spin~:Cells with elongated, often tapered nuclei (con~ 4 t with high-grade sarcoma). ,histochemistry.

The tumor cells ~d with antibodies against S100 proain, v i m e n t i n , myoglobin, cytod epithelial membrane antigen were he cells had a positive reaction with nd focal patchy positivity with S100 aese findings are consistent with the described morphologic and histofeatures of malignant peripheral ~h tumors in patients with von Reckneurofibromatosis. Comment

dinghausen neurofibromatosis is a ommon autosomal dominant trait cidenee of about 1 in 3,000 live proximately 80,000 persons are afthis disorder in the United States. a rly 100 percent penetrance but aried expressivity. Both sexes and all ~ae~ ap~peearto be affected equally. At least half ~[ at! ,! eases oecu r 1"n patients with no apparent Na~fly history. ~ i ~ h e clinieal features of this disorder invari~ l y include eafe-au-lait sl~ots, multiple neuro~ibromas, and liseh nodules or pigmented iris ~a~artomas Other features are maerocephaly, norvous system tumors, pseudoarthrosis, short stature, intellectual a impediments, and seizure disations from visceral neurofibrothan i pereent of patients. The tract is most commonly in,tosis is a hamartomatous disor.omponents of neural-crest ori-crest is a transient embryonic

....

" E M B E R 1991

/

structure whose cells form neuronal, neuralsupportive, pigmentary, endocrine, and other tissues. Neurofibromas are tumors of autonomic peripheral nerve sheaths. The Schwann cell most likely is the cell of origin, but some may o r i g i n a t e from the p e r i n e u r i u m or endoneurium. 1 The pathogenesis of this disorder is not known. The incidence of malignant degeneration of n e u r o f i b r o m a in patients with von Reeklinghausen disease has been estimated to be 5 to 10 percent. 4,5 Malignant degeneration usually occurs in a neurofibroma which has been present for an extended period of time. It is heralded by rapid growth of the tumor. The incidence of metastases at the time of original presentation is about 20 percent. When metastases do oeeur, the prognosis has been uniformly fatal. Currently, the only treatment is surgical excision of the malignant tumors. There has been very limited response to chemotherapy, ineluding multiple drug regimens, and no response to radiation therapy. The urologic manifestations of von Reeklinghausen neurofibromatosis have been previously reported. 3 The most common presentation is related to neurofibromas of the bladder. There have been about 40 reported eases in the literature. 6 These tumors originate from the nerve sheaths of the rich autonomic nerve plexuses of the bladder and bladder neck. Hydronephrosis is a common form of presentation. Retroperitoneal neurofibromas have also been reported to involve the upper urinary tracts, however these are rare. Other urologic complications include hypertension from both renal artery stenosis and pheoehromoeytomas and genital neurofibromas. Malignant degeneration of a neurofibroma of the bladder has been reported once previously by Ross. 7 We believe our ease represents the second reported malignant peripheral nerve-sheath tumor of the bladder in a patient with neurofibromatosis. Poleksie6 has described a leiomyosarcoma of the bladder in a patient with this disease. DeKlerk and Campbell 8 reported 2 eases of neurofibromatosis of the bladder which on histologie examination showed some "sareomatous changes," but these tumors clinically behaved in a benign fashion. Due to the rarity of this disorder, its management has yet to be determined. To this point only surgical excision has offered the potential for cure. However, the removal of all cutaneous and visceral neurofibromas is not a viable option. The most appropriate management

VOLUME XXXVIn, NUMBER 5

475

appears to be very close observation and followup of these patients with excision of any large neurofibroma and any neurofibroma that increases rapidly in size. Chemotherapy may play a role in the future. Radiation therapy does not appear to offer any benefit. 4160 John R #1017 Detroit, Michigan 48201 (DR. SMITH) References 1. Herra GA, and de Moraes PH: Neurogenie sarcomas in patients with neurofibromatosis (von Reeklinghausen's disease), Vireh Arch 403:361 (1984).

476

2. Riecardi VM: Von Recklinghausen's neur, Engl J Med 305:1617 (1981). 3. Blum MD, Bahnson RR, and Carter MF: l rations of von Recklinghausen neurofibromatosis

(1985).

4. Hosoi K: Multiple neurofibromatosis (von disease) with special reference to malignant tran Surg 22:258 (1931). 5. D'Agostino AN, Soule EH, and Miller RH: peripheral nerves and somatic soft tissues associa neurofibromatosis (von Recldinghausen's dise~ 1015 (1963). 6. Poleksic S: Leiomyosarcoma of the urinar Recldinghausen's neurofibromatosis, Urology If 7. Ross JA: A case of sarcoma of the blade linghausen's disease, Br J Urol 29:121 (1957). 8. DeKlerk JN, and Campbell WA: Neurofil bladder, J Urol 72:1167 (1954).

UROLOGY

/

NOVEMBER 1991 / VOLUME

Malignant peripheral nerve sheath tumor (malignant schwannoma) of urinary bladder in von Recklinghausen neurofibromatosis.

Von Recklinghausen neurofibromatosis occurs in 1 in 3,000 live births; however, urologic manifestations are rare. There have been over 40 reported cas...
1MB Sizes 0 Downloads 0 Views