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Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India.

Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India.
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Khadilkar K, Sarathi V, Kasaliwal R, Pandit R, Goroshi M, Shivane V, Lila A, Bandgar T, Shah NS,


Khadilkar K, Sarathi V, Kasaliwal R, Pandit R, Goroshi M, Shivane V, Lila A, Bandgar T, Shah NS, (click to view)

Khadilkar K, Sarathi V, Kasaliwal R, Pandit R, Goroshi M, Shivane V, Lila A, Bandgar T, Shah NS,

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Journal of pediatric endocrinology & metabolism : JPEM 2017 04 22() doi 10.1515/jpem-2016-0375
Abstract
BACKGROUND
Data on genotype-phenotype correlation in children is limited. Hence, we studied the prevalence of germline mutations and genotype-phenotype correlation in children with pheochromocytoma (PCC)/paraganglioma (PGL) and compared it with adult PCC/PGL cohort.

METHODS
A total of 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofibromatosis type1 (NF1).

RESULTS
Thirty patients (12 boys, 18 girls) presented at ≤20 years of age (mean age of 15.9±3.8 years). Children were more frequently symptomatic and more frequently had bilateral PCC than adults. Fourteen (46.7%) PCC/PGL children had germline mutations (VHL 10 [33.3%], SDHB 2 [6.6%], and SDHD 2 [6.6%]). Overall germline mutations (46.7% vs. 26.4%, p=0.04) and VHL mutations (33.3% vs. 10.9%, p=0.026) were significantly more common in children than in adults. In children with VHL mutations, bilateral PCC were more frequent than in adults with VHL mutations. Within the paediatric cohort, bilateral PCC (60% vs. 5%, p=0.002), PCC+sPGL (30% vs. 0%, p=0.03) and occurrence of a second PCC/PGL (30% vs. 0%, p=0.03) were significantly more frequent among children with VHL mutations than others.

CONCLUSIONS
All PCC/PGL children should be screened for germline mutations with first priority for VHL gene testing. Paediatric PCC/PGL patients with VHL mutations should be thoroughly evaluated for bilateral PCC and PCC+sPGL at initial presentation and closely followed up for occurrence of a second PCC/PGL.

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