Choi Joseph Do Woong, Tucker Katherine M, Lee Tack Tsiew, Chong Guan C
Academic Unit of Surgery, Australian National University Medical School, The Canberra Hospital, Canberra, Australian Capital Territory, Australia.
Head Neck. 2014 Oct;36(10):E99-E102. doi: 10.1002/hed.23598. Epub 2014 Mar 20.
Hereditary paraganglioma-pheochromocytoma syndromes (PGL/PCC) are rare tumors arising from neuroendocrine cells.
The proband, a 59-year-old white man and his 42-year-old elder son had a medical history of bilateral carotid body PGL and both presented for treatment of abdominal PGLs. His 36-year-old daughter had excision of recurrent malignant carotid body PGL and vertebral metastasis. His 33-year-old youngest son presented for excision of a unilateral carotid body PGL. All 4 members had succinate dehydrogenase subunit D (SDHD) mutations, whereas the proband and youngest son also had concurrent rearranged during transfection (RET) mutation.
This is the first report of PGL/PCC with SDHD and RET mutations. The role of the RET gene as a modifier remains speculative. Additionally, the family pedigree suggests maternal inheritance of disease from the probands' paternal grandmother. Clinicians should refer PGL/PCC families for mutation analysis as well as being alert to changes in the classification of mutations.
遗传性副神经节瘤 - 嗜铬细胞瘤综合征（PGL/PCC）是起源于神经内分泌细胞的罕见肿瘤。
先证者为一名59岁白人男性，其42岁的长子有双侧颈动脉体副神经节瘤病史，二人皆因腹部副神经节瘤前来治疗。他36岁的女儿接受了复发性恶性颈动脉体副神经节瘤及椎体转移灶的切除手术。他33岁的幼子前来切除单侧颈动脉体副神经节瘤。所有4名家庭成员均有琥珀酸脱氢酶亚基D（SDHD）突变，而先证者和幼子还同时存在转染期间重排（RET）突变。
这是首例伴有SDHD和RET突变的PGL/PCC报告。RET基因作为修饰基因的作用仍具有推测性。此外，家系图谱提示该疾病由先证者的祖母通过母系遗传。临床医生应将PGL/PCC家系转诊进行突变分析，并警惕突变分类变化。
