Case presentationFirst onsetA 19-years-old female was first found with occupation about 6.2 cm × 5.7 cm in the right adrenal five years ago based on CT scan at a regular physical examination, accompanied with fever and headache with high blood pressure. Tumor resection was performed, and pathological diagnosis was right pheochromocytoma. The patient was regularly subjected to follow-up.Secondary onsetDuring this hospitalization, CT scan found multiple tumor occupation in left adrenal and paraganglion region zones with round nodular shadows. Meanwhile, she had fever and headache with high blood pressure. Based on medical history and examination, she was diagnosed as left pheochromocytoma. Meanwhile, the occupying lesions in right lung and pancreas were found, located in extrabasal segment of inferior lobar and head respectively.Case characteristicsThe case characteristics were summarized: 1. A 12y female; 2. Tumor occupation was first found in right adrenal; 3. Tumor resection was performed and the pathological diagnosis was pheochromocytoma; 4. Multiple round nodular shadows were found in left adrenal and paraganglion region zones after five years; 6. The symptoms were fever and headache with high blood pressure; 7. The diagnosis was pheochromocytoma (PCC) and paraganglioma (PGL) (Combined PPGLs); 8. The occupying lesions located in right lung and pancreas were scanned and diagnosed with masses.Diagnostic methodThe patient was followed up regularly. Based on personal medical history, symptoms and imaging examinations, the patient was diagnosed as PPGLs combined with right lung and pancreas occupation.Multidisciplinary team discussion based on professional board indicated the following views: (1) The diagnosis was possibly considered as atypical VHL type II. Further qualitative diagnosis relied on genetic examination; (2) Other lesions like retina tumor should be examined. (3) PPGLs was surgically resected for pursuing pathological diagnosis. (4) The occupying lesions in right lung and pancreas were performed with puncture biopsy for further diagnosis. The diagnosis and treatment workflow were shown in Fig. 1.
PatientID: 1 (case)
KindredID: 1
Case: F, 19Y0M, Ethnicity Unknown
DiseaseAssertion: assumed VHL
FamilyInfo: N/A
CasePresentingHPOs: HP:0006748; HP:0002666; HP:0030445; HP:0030405 (adrenal pheochromocytoma; pheochromocytoma; Pulmonary carcinoid tumor; Pancreatic endocrine tumor)
CaseHPOFreeText: At 12 years old, a female patient presented with fever and headache with high blood pressure. Upon a CT scan, a right adrenal tumor was detected and tumor resection was performed, revealing a pathological diagnosis of pheochromocytoma. Upon further review, a CT scan found multiple tumors in left adrenal and paraganglion region zones with round nodular shadows. She was diagnosed with pheochromocytoma (PCC) and paraganglioma (PGL). A lung puncture revealed a carcinoid and a pancreatic puncture indicates a neuroendocrine tumor. Left adrenalectomy and PPGL resection was performed and diagnosis was pathologically confirmed
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CasePreviousTesting:
PreviouslyPublished: N/A
SupplementalData: Yes (somatic info)
Variant: p.R167Q (c.500G>A)
LegacyVariant: N/A
CaseProblemVariantFreeText: N/A
ClinVarID: 2216, https://www.ncbi.nlm.nih.gov/clinvar/variation/2216/
CAID: N/A
gnomAD: 0.000003977, https://gnomad.broadinstitute.org/variant/3-10191507-G-A
VariantEvidence: N/A
MutationType: missense_variant; transition
CivicName: R167Q (c.500G>A)
MultipleGeneVariants: N/A