Head and Neck Paragangliomas in Von Hippel-Lindau Disease and ...

Table 1. Demographic and clinical data summary of the 12 cases of this study and reported hereditary head and neck paragangliomas in von Hippel-
Lindau disease (VHL), multiple endocrine neoplasia type 2 (MEN 2) and neurofibromatosis type 1 (NF 1)
Case/ Age Sex Disorder Mutation Sympt- Cause of Admission HNP Location Family Previous Tumors Tumors Later
(Reference)
omatic
History
1 15 m VHL VHL p.Tyr98His no Routine VHL check Carotid Body negative Pheo no
2 34 m VHL VHL p.Leu135X yes Painful lateral neck mass Carotid Body positive Prolactinoma RCC, PcCy
3 23 f VHL VHL p.Phe119Leu no High Platelet Count Carotid Body negative Pheo no
4 23 f VHL VHL p.Arg64Pro yes Lateral neck mass Carotid Body positive no no
5 37 f VHL VHL p.Arg107His yes Lateral neck mass Carotid Body positive no CNS and retinal hbl,
Pheo
6 42 m MEN 2 RET p.Cys620Arg yes Tinnitus; hearing loss Gl jugulare negative no MTC
7 26 f VHL VHL p.Thr105Pro yes Lateral neck mass Carotid Body positive CNS and retinal hbl no
8 27 m VHL VHL del ex 2 and 3 yes Lateral neck mass Carotid Body positive Retinal hbl, RCC,
Pheo, PcCy
no
9 33 f VHL VHL p.Ser139fs yes Lateral neck mass, Horner's Carotid Body positive Retinal hbl, RCC, CNS hbl, RCC, Abd
syndrome, ear pain
PcCy
Pgl
10 34 f VHL VHL p.Tyr98His yes Pharyngeal discomfort Carotid Body negative no Pheos, Thoracic Pgl
11 15 f VHL VHL p.Thr157Ile yes Lateral neck mass Carotid Body negative Pheos, retinal hbl CNS hbl, ICT, Pheo
12 39 f VHL VHL p.Tyr156Cys no Routine VHL check Gl vagale negative Bilateral Pheo no
(20) 18 m VHL not reported yes Lateral neck mass Carotid Body positive no Pheo
(21) 32 m VHL not reported yes Lateral neck mass Carotid Body negative CNS hbl no
(22) nr m VHL VHL p.Val166Phe nr not reported Carotid Body negative Pheo, CNS hbl no
(23) nr f VHL VHL p.Tyr98His nr not reported Carotid Body positive Retinal hbl, Pheo,
PcCy
no
(24) 37 f MEN 2 not reported yes Tinnitus; hearing loss Gl tympanicum positive no MTC, Pheo
(25) 29 f MEN 2 not reported yes not reported Carotid Body nr no MTC
(26) 20 f NF 1 not reported yes Ear noise, tinnitus, hearing Gl jugulare positive Neurofibromas, Cafe Not reported
loss
au lait spots, Pheo
(27) 24 f VHL VHL p.Tyr152Ile Not
reported
not reported Carotid Body negative no no
22