Table 3

Genotype-phenotype relationships in patients with germ-line SDHB mutations

Id #SDHB mutation [nucleotide cDNA, codon (exon)]SexAge (years)Initial tumor site/size (mm)/weight (g) (ms)Postoperative outcome
P038754–755 del tgM38Zuckerkandl body/120/150Retroperitoneal and bone metastases
Frameshift (ex 6)Died after three reinterventions, embolisations, and MIBG
Total follow-up 87 months
P106g261cM29Zuckerkandl body/50/NDaLymph node recurrences
A43P (ex 2)Died after reintervention and embolisation
Total follow-up 110 months
P107725 del cM37Urinary bladder/70/195No follow-up after first intervention
Frameshift (ex 6)
P109c822tM32Left adrenal gland/36/20Bone and lymph node metastasis
R230C (ex 7)Follow-up 90 months
P117754–755 del tgF24Zuckerkandl body/90/109Lymph node and bone metastases
Frameshift (ex 6)Died after further intervention and vertebroplasty
Total follow-up 72 months
P183g271aF54Right adrenal gland extended into the heart/140/590Pulmonary metastasis
R46Q (ex 2)Died from circulatory failure during intervention
P188g271aM28Zuckerkandl body/50/25No follow-up after first intervention
R46Q (ex 2)Right adrenal gland/65/42
P195c270gF31Left adrenal gland/60/60No recurrence after 18 months of follow-up
R46G (ex 2)
  • a ND, not determined.