Obstructive jaundice secondary to neuroendocrine tumour in a patient with von Recklinghausen's disease.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder, with variable clinical manifestations and unpredictable course, associated with an increased incidence of various tumours. Plexiform neurofibromas are hallmark lesions of NF1; they are slow-growing tumours, which account for substantial morbidity, including disfigurement and functional impairment, and may even be life-threatening. Neuroendocrine tumours (NETs), a rare diverse group of neoplasms, are occasionally associated with neurofibromatosis. Pancreatic NETs are tumours with an incidence of less than 1/100 000 population/year and complex patterns of behaviour, which often need complicated strategies for optimal management. We present the case of a young adult with NF1, having a unique concurrence of plexiform neurofibroma involving the liver with an ampullary NET, and we discuss step by step the management in a specialist centre.
Samonakis
D N
DN
Liver Transplantation and Hepatobiliary Unit, Royal Free Hospital, London, UK.
Quaglia
A
A
Joshi
N M
NM
Tibballs
J M
JM
Nagree
A
A
Triantos
C K
CK
Davies
N
N
Standish
R
R
Dhillon
A P
AP
Davidson
B R
BR
Burroughs
A K
AK
Caplin
M E
ME
D000328:Adult; D014670:Ampulla of Vater; D018278:Carcinoma, Neuroendocrine / Q000150:complications*; D003138:Common Bile Duct Neoplasms / Q000150:complications*; D006801:Humans; D041781:Jaundice, Obstructive / Q000209:etiology*; D008113:Liver Neoplasms / Q000150:complications; D008297:Male; D009378:Neoplasms, Multiple Primary; D018318:Neurofibroma, Plexiform / Q000150:complications; D009456:Neurofibromatosis 1 / Q000150:complications*