Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome.
Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome.
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DOI：
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发表时间：
1990-12
期刊：
影响因子：
3.8
通讯作者：
Charles E. Jackson;R. Norum;Boyd Sb;G. Talpos;Stuart D. Wilson;Taggart Rt;Mallette Le
中科院分区：
文献类型：
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作者：
Charles E. Jackson;R. Norum;Boyd Sb;G. Talpos;Stuart D. Wilson;Taggart Rt;Mallette Le
一个大的先前报告的家庭与甲状旁腺功能亢进症已被重新调查，最近，因为多发性骨化颌骨纤维瘤的发生在两个受影响的成员的第三代类似的颌骨肿瘤的四个受影响的成员的第一代。这些上颌骨和下颌骨肿瘤可以与甲状旁腺功能亢进的“棕色肿瘤”相鉴别，因为即使手术纠正了高钙血症，它们也会出现并扩大。这些肿瘤在组织学上是明显的纤维骨性病变，没有“棕色肿瘤”中所见的巨细胞。“甲状旁腺肿大大多是单腺性的，偶尔发现多个肿瘤。在这个大家族和休斯顿的一个类似家族中进行了DNA连锁研究，以确定这种综合征的基因（称为HRPT 2）是否与11号染色体上的DNA标记物相关联，而多发性内分泌瘤（MEN）1型的基因与11号染色体上的DNA标记物相关联。(This我们在这里报道的一个MEN 1家族中的发现支持了这种联系。还用10号染色体上的标记进行了连锁研究，MEN 2A和MEN 2B的基因已与该标记连锁。与10号染色体和11号染色体标记紧密连锁的证据表明，这种临床上不同的综合征也是遗传上不同的。
A large previously reported family with hyperparathyroidism has been reinvestigated recently because of the occurrence of multiple ossifying jaw fibromas in two affected members of the third generation similar to the jaw tumors of four of five affected members of the first generation. These maxillary and mandibular tumors can be differentiated from the "brown tumors" of hyperparathyroidism because they can appear and enlarge even though the hypercalcemia is surgically corrected. These tumors are histologically distinct fibroosseous lesions without the giant cells seen in "brown tumors." The parathyroid enlargement was mostly uniglandular, with multiple tumors found occasionally. Studies in DNA linkage were performed within this large family and a similar family in Houston to determine if the gene for this syndrome, termed HRPT2, is linked to DNA markers on chromosome 11, to which the gene for multiple endocrine neoplasia (MEN) type 1 has been linked. (This linkage is supported by our findings in one family with MEN 1 reported here.) Linkage studies were also performed with markers on chromosome 10, to which the genes for MEN 2A and MEN 2B have been linked. Evidence against close linkage with chromosome 10 and chromosome 11 markers suggests that this clinically distinct syndrome is also genetically distinct.