Primäres diffuses Neurofibrom der Harnblase

Der Urologe (Impact Factor: 0.44). 11/2010; 49(11):1398-1400. DOI: 10.1007/s00120-010-2423-4


Diffuse Neurofibrome sind gutartige mesenchymale Tumore mit Nervenscheidendifferenzierung. Es gibt lediglich sehr wenige Fallberichte
über diffuse Neurofibrome in der Harnblase. Wir präsentieren einen gut dokumentierten Fallbericht eines 62-jährigen Patienten,
der sich mit Makrohämaturie in unserer Klinik vorstellte. Die weitere Abklärung erbrachte den histologischen Nachweis eines
diffusen Neurofibroms. Wir führten daraufhin eine Literaturrecherche hinsichtlich klinischer Merkmale und therapeutischer
Optionen durch.

Diffuse neurofibromas are benign mesenchymal tumours with nerve sheath differentiation. Only a few cases have been reported
in the urinary bladder. We present a well-documented case report of a 62-year-old man presenting with gross haematuria and
histopathological confirmation of a diffuse neurofibroma. We further reviewed the current literature with regard to clinical
features and treatment options.

SchlüsselwörterDiffuses Neurofibrom-Harnblase-Fallbeschreibung
KeywordsNeurofibroma, diffuse-Bladder-Case report

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    ABSTRACT: BACKGROUND Neurofibroma of the urinary bladder is rare. Only isolated case reports have appeared. Information regarding the long term follow-up of patients with neurofibroma is limited.METHODS The authors studied 4 cases of neurofibroma of the bladder diagnosed at Mayo Clinic from 1965 through 1990. Immunostains for S-100 protein, neurofilament protein, epithelial membrane antigen (EMA), cytokeratin (CAM 5.2; AE 1/3), Type IV collagen, MIB-1, and p53 protein were performed in all cases, as was Alcian blue at pH 2.5. The mean follow-up was 9.6 years (range, 2–18 years).RESULTSThe mean age at diagnosis was 17 years (range, 7–28 years); the male-to-female ratio was 1:1. All four patients exhibited physical stigmata of neurofibromatosis type 1. Clinical presentations included hematuria (one patient), irritative symptoms (two patients), and pelvic mass (one patient). Long term urinary complications included bladder atony (two patients), neurogenic bladder (one patient), and recurrent urinary tract infection with hematuria (one patient). Subsequently, two patients underwent partial cystectomy and one a complete cystectomy. Involvement of the bladder was generalized in all four cases. Three tumors were transmural, showing a diffuse and plexiform pattern of growth; in the fourth case, a superficial biopsy showed only diffuse submucosal growth with conspicuous pseudo-Meissnerian corpuscle formation. An Alcian blue positive, variably collagenized matrix was present in all cases. Tumor cells displayed immunoreactivity for S-100 protein and Type IV collagen in all cases. Neurofilament protein positive axons were evident in three cases; all other immunostains were negative. The mean MIB-1 labeling index was 3.2% (range, 0.9–7.3%). No malignant transformation was observed during a mean follow-up of 9.6 years.CONCLUSIONS Neurofibroma of the bladder presents early in life, is of the plexiform type with a diffuse component, and usually occurs in the setting of generalized neurofibromatosis type 1 rather than as isolated visceral neurofibromatosis. Malignant transformation did not occur in any of these 4 patients during a mean follow-up time of 9.6 years. Cancer 1999;86:505–13. © 1999 American Cancer Society.
    Cancer 08/1999; 86(3):505 - 513. DOI:10.1002/(SICI)1097-0142(19990801)86:3<505::AID-CNCR20>3.0.CO;2-A · 4.89 Impact Factor
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    ABSTRACT: Neurofibromatosis is of great importance not only to the thousands of affected patients and their physicians but also to researchers concerned with genetics, melanin synthesis, neural-crest embryology, cell-cell interactions, cancer, and other disciplines. However, only recently has neurofibromatosis been the subject of widespread, systematic studies of its nature and pathogenesis. Neurofibromatosis is a relatively common autosomal dominant trait with a frequency of about 1 in 3000; it is inexorably progressive, but with markedly variable expressivity. Recognition of the potential importance of neurofibromatosis has led to a reassessment of old data and to the acquisition of new data, so that a review of current understanding of the disease is warranted. Specific data providing the groundwork for this review derive from previously published sources, and from the prospective longitudinal study being conducted by the Baylor Neurofibromatosis Program. Classical neurofibromatosis is due to an autosomal dominant mutation that is known worldwide, without any apparent racial, ethnic, or national restrictions. Both sexes are affected with equal frequency and severity. As noted, expressivity is variable, but penetrance is virtually 100%: Incomplete evaluation and nonpaternity are much more likely to account for apparent nonpenetrance. Neurofibromatosis is purported to be one of humanity's most common mutations, with rate estimates as high as 10-4 mutations per gamete per generation. (It is of some interest that in spite of its commonness among human beings, there is no comparable mutation known among other animals, although a number of species do have a frequent occurrence of multiple neurofibromas on a nonheritable basis. At least half the index cases represent new mutations. Genetic counseling is straightforward once the diagnosis of classical neurofibromatosis is established: For the patient's offspring there is a 50% recurrence risk in both sexes, with virtually 100% penetrance, and markedly variable expressivity, with a minimum 25 to 30% risk for moderate or severe (Grade III or IV) disease. Prenatal diagnosis is not possible. Genetic counseling for a patient's first-degree relative (parent, sibling, or offspring) who is postpubertal and has no cafe-au-lait spots, neurofibromas, or Lisch nodules is also straightforward: It is extremely unlikely that the person has the neurofibromatosis gene, and therefore the risk for his or her offspring is virtually that of the general population.
    New England Journal of Medicine 01/1982; 305(27):1617-27. DOI:10.1056/NEJM198112313052704 · 55.87 Impact Factor
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    ABSTRACT: A case of malignant peripheral nerve sheath tumor of the bladder in a 57-year-old man with multiple neurofibromatosis type 1 is presented. The patient had a recent history of a transurethrally resected bladder ganglioneuroma. A probable histogenetic association between these two extremely rare neoplasms is proposed.
    Urologia Internationalis 02/2002; 69(2):156-9. DOI:10.1159/000065568 · 1.43 Impact Factor
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