- Email: [email protected]
Neurofibromatosis of the Bladder: Case Report and Review of the Literature
Vol. 96, Dec.
THE JOURNAL OF UROLOGY
Copyright © 1966 by The Williams & Wilkins Co.
Printed in U.S.A.
NEUROFIBROMATOSIS OF THE BLADDER: CASE REPORT AND REVIEW OF THE LITERATURE HERMOGENES TORRES*
AND
MATTHEW J. BENNETT
From the Department of Urology and Pathology, Meadowbrook Hospital, East ivfeadow, New York
Multiple neurofibromatosis, von Recklinghausen's disease, is an inherited dysgenesis transmitted as a mendelian dominant often as an incomplete or abortive form. 1 Involvement of the bladder is rare. Of the 32 cases reported, 2- 10 three were histologically malignant but without evidence of metastases, 11 cases occurred in children and of the 29 cases in which examination of the skin was mentioned, 22 had cutaneous evidence of the disease. CASE REPORT
C. S., a 27-year-old white woman, was admitted to the urologic service at Meadowbrook Hospital on May 27, 1961 with the chief complaint of frequency of urination and weight loss of 15 pounds over a period of several months together with intermittent progressive sharp, deepseated, non-radiating pain in the right lumbar area. The only significant family medical history was that one of her brothers had areas of light brown pigmentation of the skin. Accepted for publication February 15, 1966. * Present address: 1227 Estrada Street, Malate, Manila, Philippines. 1 Russell, D.S. and Rubinstein, L. J.: Pathology of Tumors of the Nervons System. Baltimore: The Williams and Wilkins Co., 2nd edit., 1963. 2 Gonzalez-Angulo, A. and Reys, H. A.: Neurofi.bromatosis involving the lower urinary tract. J. Urol., 89: 804-811, 1963. 3 Bernstein, W. C. and McKnight, R. E.: Neurofi.broma of the bladder presenting as a perirectal hernia: Report of a case. Dis. Colon Rectum, 6: 457-458, 1963. 4 Dixon, H. G. and Annamunthodo, H.: Neurofi.broma of the bladder. W. Indian Med. J., 8: 272-274, 1959. 5 Harvey, D. F. and Tennant, R.: Primary neurogenic sarcoma of bladder in infant one month of age. Amer. J. Path., 10: 125-128, 1934. 6 Van Buskirk, K. E., Clark, P. K., Snoga, J. R. and Attwood, C.: Neurofibroma of the bladder: Case report and review of the literature. J. Urol., 91: 241-245. 1964. 7 Schoenberg, H. W. and Murphy, J. J.: Neurofi.broma of the bladder. J. Urol., 85: 800-801, 1961. 8 Witus, W. S., Joseph, H.F. and Valk, W. L.: Neuro-fi.bromatosis with involvement of the genitourinary tract. J. Urol., 80: 110-113, 1958. 9 Wojewski, A. and Galica, E.: Neuro-fi.bromatosis of the urinary bladder. Pol. Przegl. Chir., 33: 75-78, 1961. 10 Hess, E.: Sarcoma of prostate and adjacent retrovesical structures. J. Urol., 40: 629-640, 1938.
Physical examination revealed multiple irregular, sharply delineated areas of light brown cutaneous pigmentation measuring up to approximately 4 cm. in diameter with predominance over the chest, abdomen, lumbo-sacral area and sides (fig. 1, A). Routine hemograms, blood urea nitrogen and serology were normal. Urinalysis showed many white cells with clumps, a few red cells, 2 plus albumin, many epithelial cells and a few bacteria. Urine culture grew out coagulase-positive Staphylococcus aureus, Staphylococcus albus and alpha Streptococcus. U rethrocystoscopy showed elevation of the trigone by a 4 cm. subtrigonal ovoid mass with irregularity and edema of the overlying mucosal surface. The inter-ureteric ridge and the ureteral orifices could not be identified. Indigo carmine was not excreted into the bladder during a 45minute observation. Excretory urography revealed bilateral renal function with marked bilateral hydroureter and hydronephrosis (fig. 1, B). A 4-hour delayed film satisfactorily visualized the entire urinary tract; the excretory cystogram at this time faintly outlined a mass in the region of the trigone. A voiding cystogram showed no evidence of ureteral reflux. The patient was operated upon on June 6 with a preoperative diagnosis of neurofibromatosis of the bladder. The trigonal mass and a smaller 2 cm. nodule in the superior wall were excised. The histological report was neurofibromatosis (surgical No. 61-2744). At this time several thickened areas were also noted throughout the bladder wall. A No. 26 Foley catheter was used as a suprapubic tube and brought out through the abdominal incision along with two ureteral catheters and anchored to the skin. The ureteral catheters were removed 6 days postoperatively followed by removal of the suprapubic tube 2 days later. Convalescence was uneventful and the patient was discharged on gantrisin on June 18. In view of the extensive involvement of the bladder by tumor with the probability of future
910
="EUHOFIBHOMATOSL':i OF BLADDEH
9Il
Frn. 1. il, rnnl liplc cafe-a.n-l:1i t spo1 s. 13, excretory Ltrogrnm shows nmrkccl bilateral
and hydroureter.
urnthra.l orifice obstruction and infection, the possibility of malignant change, alld considering her good general rondition, the patient was reoperated on with the plan of and urinary diversion. Both uretern were identified and mobilized to a sufficient length. BectLuse the diameter of each ureter measured approximately 3 cm., it was thought unwise to transplant the widely dilated uretern to the ileum; consequently bilateral skin ureterostornies 1Yere performed. Cystec:tomy was deferred because of the long operative time:. On July 31 the patient was operated upon for the third time. The bladder was mobilized and wab performecl (surgical No. 614160).
\Vhen last heard from, approximately 4 years following discharge, the 1mtient was doing well and had no complaints. l'ATHOLOGY
The original bladder lesion submitted as subtrigonal tissue consi.,ted of two roughly discoid portions of gray-white, rubbery tissue up to 4 cm. in diameter and 2 cm. in thickness. The seC'oncl specimen ,submitted as urinary bladder measured up to 9 9 by 5 cm. (fig. 2). Both specimens presented diffusely nodular cut surfaces involving the full thickness of the
FIG. 2, Bladder specimen shows thickened wall and marked nodnlarity of mucosa] surface. bladder wall including the wall the ureteral and urethral orifices. l\i[icroscopic examination showed the tumor to be made up of interweaving bundles of shaped cells with elongated nuclei,
912
TORRES AND BENNETT
Fm. 3. Bladder tumor shows nodular proliferation which involved entire thickness of bladder wall. X 25 poorly defined cytoplasm and varying degrees of myxoid stronm (fig. 3). In areas the nuclei showed a tendency to palisade and in others were moderately enlarged and showed considerable hyperchromasia. However, no mitoses were noted. The diagnosis on both specimens was neurofibromatosis of the bladder. DISCUSSION
Neurofibromatosis of the bladder, although rare, should be considered in any patient with urinary tract symptoms who has cutaneous evidence or a familial hiRtory suggestive of the disorder. In a symptomatic patient, as here reported, prompt surgical intervention may be necessary to prevent further structural damage. When, as in this case, extensive involvement rules out the possibility of conservative reconstruction, removal of the diseased bladder should be eonsidered since tumor recurrence and rate of growth following incomplete removal may be rapid and the possibility of malignant rhange, although infrequent,11 always exists.1 2- 14 Involve1nent of the urethral orifice with the possibility of obstruction and infection in a non-draining bladder would further weigh in favor of cystectomy. However, the frequent multicentric distribution 11 Stout, A. P.: Tumors of the Peripheral Nervous System. In: Atlas of Tumor Pathology. Washington: Armed Forces Institute of Pathology, pp. 9-57, sec. 2, 1949. 12 Speed, K.: Malignant degeneration of neuro-
of the disease and its usual benign course together with the possibility of troublesome bleeding during surgery15 suggest that especially when the patient is not a good surgical risk, a conservative approach may be considered and that following transplantation of the ureters cystectomy should not be performed. In this case, it was evident during the initial procedure that the bladder was diffusely involved and in retrospect a total cystectomy should have been considered at that time. SUMMARY
A case of diffuse involvement by neurofibromatosis of the bladder with marked bilateral ureteral obstruction in a 27-year-old white woman with multiple cafe-au-lait spots is presented. The patient did well following bilateral skin ureterostomies and subsequent cystectomy and 4 years later offered no complaints. The literature and pathology of the disease are reviewed. fibromata of peripheral nerve trunks (von Recklinghansen's disease). Ann. Surg., 116: 81-85, 1942. 1 " Hosoi, K.: Multiple neurofibromatosis (von Recklinghausen's disease), with special reference to malignant transformation. Arch. Snrg., 22: 258-281, 1931. 14 Harbitz, F.: Multiple nenrofibromatosis (von Recklinghausen's disease). Arch. Intern. Med., 3: 32-65, 1909. 15 Turner, N. S., Kelly, P. J. and Payne, vV. S.: Congenital neurofibromatosis presenting as a surgical emergency. J.A.M.A., 185: 602-603, 1963.
THE JOURNAL OF UROLOGY
Copyright © 1966 by The Williams & Wilkins Co.
Printed in U.S.A.
NEUROFIBROMATOSIS OF THE BLADDER: CASE REPORT AND REVIEW OF THE LITERATURE HERMOGENES TORRES*
AND
MATTHEW J. BENNETT
From the Department of Urology and Pathology, Meadowbrook Hospital, East ivfeadow, New York
Multiple neurofibromatosis, von Recklinghausen's disease, is an inherited dysgenesis transmitted as a mendelian dominant often as an incomplete or abortive form. 1 Involvement of the bladder is rare. Of the 32 cases reported, 2- 10 three were histologically malignant but without evidence of metastases, 11 cases occurred in children and of the 29 cases in which examination of the skin was mentioned, 22 had cutaneous evidence of the disease. CASE REPORT
C. S., a 27-year-old white woman, was admitted to the urologic service at Meadowbrook Hospital on May 27, 1961 with the chief complaint of frequency of urination and weight loss of 15 pounds over a period of several months together with intermittent progressive sharp, deepseated, non-radiating pain in the right lumbar area. The only significant family medical history was that one of her brothers had areas of light brown pigmentation of the skin. Accepted for publication February 15, 1966. * Present address: 1227 Estrada Street, Malate, Manila, Philippines. 1 Russell, D.S. and Rubinstein, L. J.: Pathology of Tumors of the Nervons System. Baltimore: The Williams and Wilkins Co., 2nd edit., 1963. 2 Gonzalez-Angulo, A. and Reys, H. A.: Neurofi.bromatosis involving the lower urinary tract. J. Urol., 89: 804-811, 1963. 3 Bernstein, W. C. and McKnight, R. E.: Neurofi.broma of the bladder presenting as a perirectal hernia: Report of a case. Dis. Colon Rectum, 6: 457-458, 1963. 4 Dixon, H. G. and Annamunthodo, H.: Neurofi.broma of the bladder. W. Indian Med. J., 8: 272-274, 1959. 5 Harvey, D. F. and Tennant, R.: Primary neurogenic sarcoma of bladder in infant one month of age. Amer. J. Path., 10: 125-128, 1934. 6 Van Buskirk, K. E., Clark, P. K., Snoga, J. R. and Attwood, C.: Neurofibroma of the bladder: Case report and review of the literature. J. Urol., 91: 241-245. 1964. 7 Schoenberg, H. W. and Murphy, J. J.: Neurofi.broma of the bladder. J. Urol., 85: 800-801, 1961. 8 Witus, W. S., Joseph, H.F. and Valk, W. L.: Neuro-fi.bromatosis with involvement of the genitourinary tract. J. Urol., 80: 110-113, 1958. 9 Wojewski, A. and Galica, E.: Neuro-fi.bromatosis of the urinary bladder. Pol. Przegl. Chir., 33: 75-78, 1961. 10 Hess, E.: Sarcoma of prostate and adjacent retrovesical structures. J. Urol., 40: 629-640, 1938.
Physical examination revealed multiple irregular, sharply delineated areas of light brown cutaneous pigmentation measuring up to approximately 4 cm. in diameter with predominance over the chest, abdomen, lumbo-sacral area and sides (fig. 1, A). Routine hemograms, blood urea nitrogen and serology were normal. Urinalysis showed many white cells with clumps, a few red cells, 2 plus albumin, many epithelial cells and a few bacteria. Urine culture grew out coagulase-positive Staphylococcus aureus, Staphylococcus albus and alpha Streptococcus. U rethrocystoscopy showed elevation of the trigone by a 4 cm. subtrigonal ovoid mass with irregularity and edema of the overlying mucosal surface. The inter-ureteric ridge and the ureteral orifices could not be identified. Indigo carmine was not excreted into the bladder during a 45minute observation. Excretory urography revealed bilateral renal function with marked bilateral hydroureter and hydronephrosis (fig. 1, B). A 4-hour delayed film satisfactorily visualized the entire urinary tract; the excretory cystogram at this time faintly outlined a mass in the region of the trigone. A voiding cystogram showed no evidence of ureteral reflux. The patient was operated upon on June 6 with a preoperative diagnosis of neurofibromatosis of the bladder. The trigonal mass and a smaller 2 cm. nodule in the superior wall were excised. The histological report was neurofibromatosis (surgical No. 61-2744). At this time several thickened areas were also noted throughout the bladder wall. A No. 26 Foley catheter was used as a suprapubic tube and brought out through the abdominal incision along with two ureteral catheters and anchored to the skin. The ureteral catheters were removed 6 days postoperatively followed by removal of the suprapubic tube 2 days later. Convalescence was uneventful and the patient was discharged on gantrisin on June 18. In view of the extensive involvement of the bladder by tumor with the probability of future
910
="EUHOFIBHOMATOSL':i OF BLADDEH
9Il
Frn. 1. il, rnnl liplc cafe-a.n-l:1i t spo1 s. 13, excretory Ltrogrnm shows nmrkccl bilateral
and hydroureter.
urnthra.l orifice obstruction and infection, the possibility of malignant change, alld considering her good general rondition, the patient was reoperated on with the plan of and urinary diversion. Both uretern were identified and mobilized to a sufficient length. BectLuse the diameter of each ureter measured approximately 3 cm., it was thought unwise to transplant the widely dilated uretern to the ileum; consequently bilateral skin ureterostornies 1Yere performed. Cystec:tomy was deferred because of the long operative time:. On July 31 the patient was operated upon for the third time. The bladder was mobilized and wab performecl (surgical No. 614160).
\Vhen last heard from, approximately 4 years following discharge, the 1mtient was doing well and had no complaints. l'ATHOLOGY
The original bladder lesion submitted as subtrigonal tissue consi.,ted of two roughly discoid portions of gray-white, rubbery tissue up to 4 cm. in diameter and 2 cm. in thickness. The seC'oncl specimen ,submitted as urinary bladder measured up to 9 9 by 5 cm. (fig. 2). Both specimens presented diffusely nodular cut surfaces involving the full thickness of the
FIG. 2, Bladder specimen shows thickened wall and marked nodnlarity of mucosa] surface. bladder wall including the wall the ureteral and urethral orifices. l\i[icroscopic examination showed the tumor to be made up of interweaving bundles of shaped cells with elongated nuclei,
912
TORRES AND BENNETT
Fm. 3. Bladder tumor shows nodular proliferation which involved entire thickness of bladder wall. X 25 poorly defined cytoplasm and varying degrees of myxoid stronm (fig. 3). In areas the nuclei showed a tendency to palisade and in others were moderately enlarged and showed considerable hyperchromasia. However, no mitoses were noted. The diagnosis on both specimens was neurofibromatosis of the bladder. DISCUSSION
Neurofibromatosis of the bladder, although rare, should be considered in any patient with urinary tract symptoms who has cutaneous evidence or a familial hiRtory suggestive of the disorder. In a symptomatic patient, as here reported, prompt surgical intervention may be necessary to prevent further structural damage. When, as in this case, extensive involvement rules out the possibility of conservative reconstruction, removal of the diseased bladder should be eonsidered since tumor recurrence and rate of growth following incomplete removal may be rapid and the possibility of malignant rhange, although infrequent,11 always exists.1 2- 14 Involve1nent of the urethral orifice with the possibility of obstruction and infection in a non-draining bladder would further weigh in favor of cystectomy. However, the frequent multicentric distribution 11 Stout, A. P.: Tumors of the Peripheral Nervous System. In: Atlas of Tumor Pathology. Washington: Armed Forces Institute of Pathology, pp. 9-57, sec. 2, 1949. 12 Speed, K.: Malignant degeneration of neuro-
of the disease and its usual benign course together with the possibility of troublesome bleeding during surgery15 suggest that especially when the patient is not a good surgical risk, a conservative approach may be considered and that following transplantation of the ureters cystectomy should not be performed. In this case, it was evident during the initial procedure that the bladder was diffusely involved and in retrospect a total cystectomy should have been considered at that time. SUMMARY
A case of diffuse involvement by neurofibromatosis of the bladder with marked bilateral ureteral obstruction in a 27-year-old white woman with multiple cafe-au-lait spots is presented. The patient did well following bilateral skin ureterostomies and subsequent cystectomy and 4 years later offered no complaints. The literature and pathology of the disease are reviewed. fibromata of peripheral nerve trunks (von Recklinghansen's disease). Ann. Surg., 116: 81-85, 1942. 1 " Hosoi, K.: Multiple neurofibromatosis (von Recklinghausen's disease), with special reference to malignant transformation. Arch. Snrg., 22: 258-281, 1931. 14 Harbitz, F.: Multiple nenrofibromatosis (von Recklinghausen's disease). Arch. Intern. Med., 3: 32-65, 1909. 15 Turner, N. S., Kelly, P. J. and Payne, vV. S.: Congenital neurofibromatosis presenting as a surgical emergency. J.A.M.A., 185: 602-603, 1963.