Table 1 Clinical Characteristics and Genetic Test Results of patients with suspected hereditary paraganglioma/pheochromocytoma syndrome (n = 13)
No | Patient profile | Age at diagnosis | Type of tumour | Tumour location | Multifocal lesions | Malignant (metastatic site) | Clinical features at presentation | Family history of pheochromocytoma or paraganglioma | Family history of other cancers | Gene | Genetic Variants |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | Chinese Singaporean female | 25 | Head and neck paraganglioma | Bilateral glomus jugulare | Yes | No | Incidental finding from radiological scan (Raised catecholamine levels) | Absent | Present Paternal first cousin: Gastric & Colon cancer - 20s, Paternal grandfather: unknown cancer and age of diagnosis | SDHD | NM_003002.3: c.3G > C (p.Met1Ile) |
29 | Head and neck paraganglioma | Unilateral carotid body | |||||||||
Adrenal pheochromocytoma | Unilateral adrenal | ||||||||||
2 | Chinese Indonesian female | 33 | Head and neck paraganglioma | Unilateral glomus jugulare | Yes | No | Hearing loss (Raised dopamine alone) | Absent | Present Maternal grandfather: Brain cancer - 75, Paternal grandfather: Prostate cancer - 63 | SDHD | NM_003002.3: c.3G > C (p.Met1Ile) |
36 | Head and neck paraganglioma | Bilateral carotid bodies and mediastinal masses | |||||||||
3 | Eurasian female | 73 | Head and neck paraganglioma | Multiple mediastinum masses (para-aortic), diaphragmatic crux masses and bilateral adrenals | Yes | No | Incidental finding from radiological scan (Normal catecholamine levels) | Absent | Present Sister: Breast cancer - 30, Mother: Colon cancer - 75, Maternal uncle: Lung cancer unknown age of diagnosis, Maternal first cousin: Breast cancer - 69 | No pathogenic variants | |
4 | Chinese Myanmese female | 39 | Head and neck paraganglioma | Unilateral carotid body | No | No | Hypertension (Normal catecholamines levels) | Present Brother: carotid PGL - 24, Father: neck PGL - 30, Paternal grandfather: possibly neck PGL, age unknown | Present Sister: head and neck cancer −36, Two paternal uncles: Hepatocellular cancer, age unknown | SDHD | NM_003002.3: c.3G > C (p.Met1Ile) |
5 | Chinese Singaporean female | 30 | Head and neck paraganglioma | Unilateral carotid body | No | No | Neck swelling (Normal catecholamines levels) | Absent | Absent | No pathogenic variants | |
6 | Malay Singaporean female | 24 | Head and neck paraganglioma | Unilateral carotid body | No | Yes (Bone, lung) | Neck swelling (Normal catecholamines levels) | Absent | Present Mother: Breast cancer - 46, Maternal aunt: Breast cancer - 20-30s, Maternal uncle: probable Prostate cancer age 60s, Maternal first cousin: Breast cancer - 40s | Not tested | |
7 | Filipino male | 20 | Non head and neck extra-adrenal paraganglioma | Retroperitoneal region | No | No | Hypertension (Raised noradrenaline and normetanephrine levels) | Absent but family members are SDHB variant carriers Mother: cancer free - 42, Brothers: cancer free – 13 and 8 | Present Maternal great grandmother: Breast cancer – 60s Maternal granduncle: prostate cancer – 60s | SHDB | NM_003000.2: c.716_719del (p.Ser239Tyrfs*8) |
8 | Chinese male from Malaysia | 32 | Non head and neck extra-adrenal paraganglioma | Paravesical | No | No | Hypertension, palpitations (Raised noradrenaline and normetanephrine levels) | Absent but family members are SDHB variant carriers Sister: cancer free −34, Brother: cancer free – 28 | Present Mother: Uterine/Cervical cancer - 57 Maternal uncle: Throat cancer - 50s Maternal uncle: Unknown cancer and age of diagnosis Paternal great grandmother: Colon cancer – 70s Paternal granduncle: Colon cancer - 75 | SDHB | NM_003000.2: c.(?-151)_(72 + 1_73–1)del |
9 | Chinese- Myanmese female | 13 | Non head and neck extra-adrenal paraganglioma | Unilateral renal | Yes | Yes (Retroperitoneal and liver) | Hypertension, syncope (Raised noradrenaline and normetanephrine levels) | Present Maternal first cousin probable PCC - 14 | Present Maternal aunt: Breast cancer - 45 | SDHB | NM_003000.2: c.756_765 + 4del |
25 | Non head and neck extra-adrenal paraganglioma | Para-aortic region | |||||||||
10 | Chinese Singaporean female | 18 | Non head and neck extra-adrenal paraganglioma | Paravesical | No | Yes (Lymph nodes and bone) | Hypertension, excessive sweating and headache (Raised noradrenaline and normetanephrine) | Absent | Present Maternal grandfather: Lung cancer – 85, Paternal grandfather: Liver cancer – unknown age of diagnosis, Paternal grandmother: Uterine cancer - 66 | SDHB | NM_003000.2: c.136C > T (p.Arg46*) |
11 | Malay Singaporean female | 63 | Primary Central Nervous System lymphoma | No | No | Incidental finding from radiological scan (Normal catecholamine levels) | Absent | Absent | No pathogenic variants | ||
66 | Non head and neck extra-adrenal paraganglioma | Bladder | |||||||||
65 | Sigmoid adenocarcinoma, Stage III | ||||||||||
12 | Chinese Singaporean female | 29 | Adrenal pheochromocytoma | Unilateral adrenal | No | No | Incidental finding from radiological scan (Raised catecholamine levels) | Unknown | Unknown | Not tested | |
13 | Chinese Singaporean female | 54 | Adrenal pheochromocytoma | Unilateral adrenal | No | No | Incidental finding from radiological scan (Unknown catecholamine levels) | Absent | Present Maternal first cousin: Leukaemia - 12, Paternal first cousin: Head and neck cancer - 30 | Not tested | |
Clear cell renal cell carcinoma | Renal |