甲状旁腺癌的基因突变：首例家族性病例报告
gene mutation with parathyroid carcinoma: first report of a familial case.
作者信息
Cinque Luigia, Sparaneo Angelo, Salcuni Antonio S, de Martino Danilo, Battista Claudia, Logoluso Francesco, Palumbo Orazio, Cocchi Roberto, Maiello Evaristo, Graziano Paolo, Hendy Geoffrey N, Cole David E C, Scillitani Alfredo, Guarnieri Vito
机构信息
Medical GeneticsIRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy.
Laboratory of OncologyIRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy.
出版信息
Endocr Connect. 2017 Nov;6(8):886-891. doi: 10.1530/EC-17-0207. Epub 2017 Nov 2.
BACKGROUND
The occurrence of parathyroid carcinoma in multiple endocrine neoplasia type I (MENI) is rare and the 15 cases of malignant parathyroid tumor reported so far have been associated with MENI in individuals and not with multiple members within a family.
METHODS
We report on a 61-year-old male, operated for a 7.3 cm parathyroid carcinoma infiltrating the esophagus. In his brother, a 4.6 cm parathyroid carcinoma was diagnosed histologically, while in the daughter, neck ultrasonography revealed 2 extrathyroidal nodules, yet to be excised.
RESULTS
Screening of the gene identified a known germline heterozygous missense mutation (c.1252G>A; p.D418N) in exon 9, in all affected subjects.
CONCLUSIONS
The occurrence of parathyroid carcinoma in more than one affected member of a single MEN1 family represents the first reported familial case. This suggests that additional constitutional genetic mutations may contribute to the variation in malignant potential and clinical behavior of parathyroid tumors in MEN1.
背景
甲状旁腺癌在I型多发性内分泌腺瘤病（MENI）中罕见，迄今为止报道的15例恶性甲状旁腺肿瘤均与个体的MENI相关，而非家族内多个成员相关。
方法
我们报告一名61岁男性，因7.3厘米甲状旁腺癌浸润食管而接受手术。他的兄弟经组织学诊断为4.6厘米甲状旁腺癌，而其女儿颈部超声检查发现2个甲状腺外结节，尚未切除。
结果
对该基因的筛查在所有受影响的受试者中发现外显子9中一个已知的种系杂合错义突变（c.1252G>A；p.D418N）。
结论
单个MEN1家族中不止一名受影响成员发生甲状旁腺癌代表首例报道的家族性病例。这表明额外的体质性基因突变可能导致MEN1中甲状旁腺肿瘤恶性潜能和临床行为的差异。
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