Ganglioneuroma of the Bladder in Association with Neurofibromatosis Type 1

Abstract

Neurofibromatosis type 1 (NF1) is a genetic disease, with autosomal dominant transmission, related to pathogenic variant of the tumor suppressor gene NF1 (17q11.2), predisposing affected subjects to a variety of benign (neurofibromas and plexiform neurofibromas) and malignant tumors. The lack of the NF1-neurofibromin gene product can cause uncontrolled cell proliferation in the central or peripheral nervous system and multisystemic involvement, and so the disease includes a heterogeneous group of clinical manifestations. Ganglioneuromas are benign tumors developing from the neural crest cells of the autonomic nervous system, considered to be part of neuroblastic tumors. Bladder localization is extremely rare in adults, and only three such cases were reported in children so far. The aim of our study, in addition to a brief review of the literature of these pathologies, is to bring to your attention the case of a sixteen year old patient with a very rare association of NF1 and bladder ganglioneuroma, who presented at the hospital with gross hematuria. Since bladder ganglioneuroma is a rare pathological condition, the differential diagnosis is difficult and imaging investigations and pathological investigations are the ones that elucidate this disease. The clinical approach of the medical multidisciplinary team involved should help the patient in managing her medical and surgical situation.

A rare entity: Ganglioneuroma of the prostate

“…They have also been rarely reported in the genitourinary tract. 1 , 2 , 3 , 4 , 5 Per these case reports, genitourinary ganglioneuromas are frequently associated with neurofibromatosis type 1. 1 , 2 , 5 However, as our patient had no history of neurofibromatosis type 1 and no subsequent lesions identified on imaging, we are reporting, to our knowledge, the first instance of ganglioneuroma involving the prostate without a currently identified genetic linkage.…”

Neonate with an abnormal umbilicus

“…The defect is thought to be due to the embryonic dysplasia theory in combination with the malfunction of ectodermal placodes 2 . It is associated with other significant anomalies in up to 80% of cases, with cardiac anomalies being the most frequent 3 . This patient was found to have hypoplastic left heart syndrome, a large patent ductus arteriosus, and situs inversus (Figure 2).…”

“…This patient was found to have hypoplastic left heart syndrome, a large patent ductus arteriosus, and situs inversus (Figure 2). The treatment for omphalocele is usually early surgical intervention, but in patients with comorbid cardiac defects, the cardiac defect must be medically stabilized or surgically repaired before a delayed reduction and closure of the abdominal defect 3 . After speaking with numerous physicians and their community Elders, the parents decided to pursue palliative care and transported the patient home where he expired.…”

Advancing Cancer Research: Current Knowledge on Cutaneous Neoplasia

“…The oncogenesis of angiosarcoma may be explained by the mutations of protein tyrosine phosphatase, receptor type B (26% of the patients), and the mutation of phospholipase C, gamma 1 (9%) [ 108 ]. Another 36% of these cancers may be explained by NUP160-SLC43A3 gene fusion [ 109 ] and other proportions can be explained by numerous mutations including KRAS , HRAS , NRAS , BRAF , MAPK1 , and NF1 [ 110 , 111 ]. Recent studies have investigated the role of survivin and forkhead box M1 as potential markers and therapeutic targets for CAS [ 112 , 113 ], and others the role of miR-497-5p or miR-210 downregulation in the pathogenesis of CAS [ 107 ].…”