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11th Annual Conference

Barcelona, 5-7 March 2014

PHEOCHROMOCYTOMAS AND PARAGANGLIOMAS
Diagnostic and Outcome Differences between Familial and Sporadic Cases
G. Ropero Luis, T. Ruiz Gracia, E. Gómez Hoyos, M. Cuesta Hernández, F. Fernández Capel, A. Ortolá Buigues, I. Crespo Hernández, I. Runkle de la Vega, P. de Miguel Novoa, J. A. Díaz Pérez

Department of Endocrinology, Metabolism and Clinical Nutrition. Hospital Clínico San Carlos, Madrid (Spain).

PATIENTS & METHODS

BACKGROUND & AIMS
Hereditary Pheochromocytomas (PCC) and Paragangliomas
(PGL) accounts for 30-35% of cases, and they are related to

All genotyped patients with PCC/PGL (n=31) diagnosed at our hospital

germline mutations in 12 genes with two different molecular

between 1984-2012 were included. 35.5% were germline mutation carriers.

phenotypes: pseudohypoxic and MAP-kinase.

Median follow-up time was 55 months (IQR 23-91) in 28 patients

Our aim was to analyze differences in diagnosis and outcome

A comparative analysis was performed using the Mann-Whitney U test, the

between sporadic and familial cases of PCC/PGL in a cohort of

chi-squared test and the Kaplan-Meier estimator with the Breslow test.

patients.

RESULTS
Figure
Figure 1.
1. Median
Median age
age in
in all
all cases
cases (n=31)
(n=31)

Figure
Figure 2.
2. Median
Median age
age in
in familial
familial cases
cases (n=11)
(n=11)

Table
Table 1.
1. Background
Background features
features
FC
(n=11)

SC
(n=20)

p

PH
(n=3)

MAPK
(n=8)

64%

45%

.32

67%

62.5%

Extra adrenal location

18.2%

25%

.52

67%

0%

.06

Other tumors

54.6%

20%

.11

0%

75%

.06

Medullary Thyroid Cancer

36.4%

--

--

50%

GIST

9.1%

--

--

12.5%

Others

9.1%

20%

--

12.5%

69
(43-166)

46
(20-84)

69
(51-69)

80
(38-210)

p=.007
p=.09

Familial Cases

Pseudo-Hypoxic
Cluster

Sporadic Cases

Figure
Figure 3.
3. Location
Location of
of all
all cases
cases

Median follow-up time
in months (IQR)

MAP-Kinase
Cluster

Figure
Figure 4.
4. Genotypes
Genotypes of
of familial
familial cases
cases

Figure
Figure 5.
5. Long-term
Long-term relapse
relapse comparison
comparison (n=28)
(n=28)

Progression-free probability

Age at diagnosis

Female

Table
Table 2.
2. Clinical
Clinical features
features
FC (n=11)

SC (n=20)

p

PH (n=3)

MAPK (n=8)

p

Asymptomatic

36.4%

20%

.32

67%

25%

.5

Paroxysmal crisis

18.2%

50%

.13

33%

12.5%

.5

Incidental diagnosis

18.2%

75%

.007

33%

12.5%

.5

Multifocality

45.5%

10%

.07

33%

50%

.58

Metastasis at diagnosis

9.1%

0%

.35

33%

0%

.27

Persistent disease six
months after surgery

9.1%

0%

.35

33%

0%

.27

Long-term recurrence

37.5%

0%

.01

100%

16.7%

.14

Clinical presentation

p=.007

Sporadic
Familial

Follow-up Time (months)

FC: Familial cases. SC: Sporadic cases. PH: Pseudohypoxic phenotype cases. MAPK: MAP-kinase
phenotype cases. GIST: Gastrointestinal stroma tumors. FPGL: Funcionant PGL (thoracic, abdominal).
HNPGL: Head & Neck PGL (non funcionant). IQR: Interquartile range.

CONCLUSIONS

Age at diagnosis was significantly lower in familial cases of PCC/PGL.

Malignant behaviour and multifocality were associated to familial cases.

Genetic testing allowed the early diagnosis in asymptomatic mutation carriers.

Sporadic cases had a better outcome and significantly longer Progression-free survival.
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