PatientID: 10

KindredID: 10

Case: Sex Unknown, 35Y0M, Italian

DiseaseAssertion: paraganglioma

FamilyInfo: None - said NOT to have a positive family history. Apparently sporadic

CasePresentingHPOs: HP:0002668 (paraganglioma)

CaseHPOFreeText: left para-adrenal PGL with an age of first diagnosis of 35Y

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P81L (c.242C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 36899 https://www.ncbi.nlm.nih.gov/clinvar/variation/36899/

CAID: N/A

gnomAD: 0.000004349 https://gnomad.broadinstitute.org/variant/3-10183773-C-T

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: P81L (c.242C>T)

MultipleGeneVariants: N/A

Medical records of 45 Italian patients with pheochromocytoma/paraganglioma referred to the hypertension centers of the University of Brescia and the University of Turin were reviewed. Germline DNA was extracted through peripheral blood, and PCR products were purified. Only familial and sporadic cases of isolated PHEO/PGL were considered. Patient number 10 was found with a germline VHL mutation (p.P81L) and left para-adrenal paraganglioma, apparently sporadic. This patient was reported to have a negative family history. ACMG: PP4

Six patients with classic VHL disease (VHL patients) and 6 healthy control participants took part in the study. The patients were free from any associated neoplasia at the time of the study and had no other medical disorders. With respect to the VHL patients, the aim of the authors was to determine whether any aspects of the CP phenotype are detectable in classic VHL disease. One 42Y male VHL patient with phenotype Type 2C VHl (pheochromocytoma only) was described to have the Pro81Leu VHL mutation.

79 patients with head and neck paragangliomas were analyzed for SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, MAX, and TMEM127 genes by PCR/MLPA sequencing. Via peripheral blood leukocytes, 1 patient was found to have the above mutation (p.P81L (c.242C>T)), and presented with a right (non-secreting) carotid body paraganglioma. No family information was presented.

PatientID: N/A

KindredID: 2

Case: Sex Unknown, Age Unknown, Ethnicity Unknown

DiseaseAssertion: paraganglioma

FamilyInfo: N/A

CasePresentingHPOs: HP:0002668 (paraganglioma)

CaseHPOFreeText: Paraganglioma of the head and neck region (HNPGL): Right carotid body; nonsecreting paraganglioma

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: MAX, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P81L (c.242C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 36899 https://www.ncbi.nlm.nih.gov/clinvar/variation/36899

CAID: N/A

gnomAD: 0.000004349 https://gnomad.broadinstitute.org/variant/3-10183773-C-T

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: P81L (c.242C>T)

MultipleGeneVariants: N/A

PatientID: 3

KindredID: 3

Case: F, 16Y0M, Korean

DiseaseAssertion: pheochromocytoma

FamilyInfo: No family history of PPGLs

CasePresentingHPOs: HP:0002666 (pheochromocytoma)

CaseHPOFreeText: recurrent PPGL - initially removed at 2.5cm; no metastases; increased NE/NM hormone levels

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: N/A

PreviouslyPublished: N/A

SupplementalData: N/A

Variant: p.P81L (c.242C>T)

LegacyVariant: N/A

CaseProblemVariantFreeText: N/A

ClinVarID: 36899 https://www.ncbi.nlm.nih.gov/clinvar/variation/36899/

CAID: N/A

gnomAD: 0.000004349 https://gnomad.broadinstitute.org/variant/3-10183773-C-T

VariantEvidence: N/A

MutationType: missense_variant;transition

CivicName: P81L (c.242C>T)

MultipleGeneVariants: N/A