Ganglioneuroma of the Bladder in Association with Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is a genetic disease, with autosomal dominant transmission, related to pathogenic variant of the tumor suppressor gene <i>NF1</i> (17q11.2), predisposing affected subjects to a variety of benign (neurofibromas and plexiform neurofibromas) and malignant tumo...
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| Format: | Article |
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MDPI AG
2022-12-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/12/12/3126 |
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| author | Elena Ţarcă Elena Cojocaru Laura Mihaela Trandafir Alina Costina Luca Alina Sinziana Melinte Popescu Lăcrămioara Ionela Butnariu Marian George Melinte Popescu Dana Teodora Anton Păduraru Mihaela Moscalu Daniela Rusu Viorel Ţarcă |
| author_facet | Elena Ţarcă Elena Cojocaru Laura Mihaela Trandafir Alina Costina Luca Alina Sinziana Melinte Popescu Lăcrămioara Ionela Butnariu Marian George Melinte Popescu Dana Teodora Anton Păduraru Mihaela Moscalu Daniela Rusu Viorel Ţarcă |
| author_sort | Elena Ţarcă |
| collection | DOAJ |
| description | Neurofibromatosis type 1 (NF1) is a genetic disease, with autosomal dominant transmission, related to pathogenic variant of the tumor suppressor gene <i>NF1</i> (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. |
| first_indexed | 2024-03-09T17:08:05Z |
| format | Article |
| id | doaj.art-1a502269dd1d4e9c84888a9d64929f32 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-09T17:08:05Z |
| publishDate | 2022-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-1a502269dd1d4e9c84888a9d64929f322023-11-24T14:19:08ZengMDPI AGDiagnostics2075-44182022-12-011212312610.3390/diagnostics12123126Ganglioneuroma of the Bladder in Association with Neurofibromatosis Type 1Elena Ţarcă0Elena Cojocaru1Laura Mihaela Trandafir2Alina Costina Luca3Alina Sinziana Melinte Popescu4Lăcrămioara Ionela Butnariu5Marian George Melinte Popescu6Dana Teodora Anton Păduraru7Mihaela Moscalu8Daniela Rusu9Viorel Ţarcă10Department of Surgery II-Pediatric Surgery, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Morphofunctional Sciences I–Pathology, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Mother and Child Medicine–Pediatrics, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Mother and Child Medicine–Pediatrics, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of General Nursing, Faculty of Medicine and Biological Sciences, “Ştefan cel Mare” University of Suceava, 720229 Suceava, RomaniaDepartment of Medical Genetics, Faculty of Medicine, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of General Nursing, Faculty of Medicine and Biological Sciences, “Ştefan cel Mare” University of Suceava, 720229 Suceava, RomaniaDepartment of Mother and Child Medicine–Pediatrics, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Preventive Medicine and Interdisciplinarity, ”Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Surgery, “Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaDepartment of Preventive Medicine and Interdisciplinarity, ”Grigore T. Popa” University of Medicine and Pharmacy, 700115 Iaşi, RomaniaNeurofibromatosis type 1 (NF1) is a genetic disease, with autosomal dominant transmission, related to pathogenic variant of the tumor suppressor gene <i>NF1</i> (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.https://www.mdpi.com/2075-4418/12/12/3126hematurianeurofibromatosisbladder ganglioneuroma |
| spellingShingle | Elena Ţarcă Elena Cojocaru Laura Mihaela Trandafir Alina Costina Luca Alina Sinziana Melinte Popescu Lăcrămioara Ionela Butnariu Marian George Melinte Popescu Dana Teodora Anton Păduraru Mihaela Moscalu Daniela Rusu Viorel Ţarcă Ganglioneuroma of the Bladder in Association with Neurofibromatosis Type 1 Diagnostics hematuria neurofibromatosis bladder ganglioneuroma |
| title | Ganglioneuroma of the Bladder in Association with Neurofibromatosis Type 1 |
| title_full | Ganglioneuroma of the Bladder in Association with Neurofibromatosis Type 1 |
| title_fullStr | Ganglioneuroma of the Bladder in Association with Neurofibromatosis Type 1 |
| title_full_unstemmed | Ganglioneuroma of the Bladder in Association with Neurofibromatosis Type 1 |
| title_short | Ganglioneuroma of the Bladder in Association with Neurofibromatosis Type 1 |
| title_sort | ganglioneuroma of the bladder in association with neurofibromatosis type 1 |
| topic | hematuria neurofibromatosis bladder ganglioneuroma |
| url | https://www.mdpi.com/2075-4418/12/12/3126 |
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