上肢肌肉过度生长伴食指发育不全：一种由体细胞PIK3CA突变c.3140A>G引起的新型过度生长综合征。
Upper limb muscle overgrowth with hypoplasia of the index finger: a new over-growth syndrome caused by the somatic PIK3CA mutation c.3140A>G.
作者信息
Al-Qattan Mohammad M, Hadadi Ali, Al-Thunayan Abdullah M, Eldali Ahmed A, AlBalwi Mohammed A
机构信息
Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia.
Division of Plastic Surgery, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.
出版信息
BMC Med Genet. 2018 Sep 4;19(1):158. doi: 10.1186/s12881-018-0672-z.
BACKGROUND
Scientists have previously described an overgrowth syndrome in Saudi patients and named it 'Upper limb muscle overgrowth with hypoplasia of the index finger' syndrome.
CASE PRESENTATION
We describe a new case and document that the syndrome is caused by the somatic PIK3CA mutation c.3140A>G, p.His1047Arg. We also recruited one of the previously reported cases and found the same somatic mutation in the affected muscles. A wider classification of 'PIK3CA-related pathology spectrum' is presented which includes cancer, benign skin lesions/tumors, Cowden syndrome, isolated vascular malformations and various overgrowth syndromes. The latter entity is sub-divided into 3 sub-groups: overgrowth with brain involvement, overgrowth with multiple lipomatosis, and overgrowth without brain involvement/multiple lipomatosis.
CONCLUSION
Our literature review indicated that "upper limb muscle overgrowth with hypoplasia of the index finger" is not as rare as previously thought to be. This overgrowth syndrome is unique and is caused by the somatic PIK3CA mutation c.3140A>G.
背景
科学家们此前曾描述过沙特患者中的一种过度生长综合征，并将其命名为“食指发育不全伴上肢肌肉过度生长”综合征。
病例报告
我们描述了一个新病例，并证明该综合征是由体细胞PIK3CA突变c.3140A>G，p.His1047Arg引起的。我们还招募了一名先前报道的病例，并在受影响的肌肉中发现了相同的体细胞突变。本文提出了“PIK3CA相关病理谱”的更广泛分类，其中包括癌症、良性皮肤病变/肿瘤、考登综合征、孤立性血管畸形和各种过度生长综合征。后者分为3个亚组：伴有脑受累的过度生长、伴有多发性脂肪瘤病的过度生长以及无脑受累/多发性脂肪瘤病的过度生长。
结论
我们的文献综述表明，“食指发育不全伴上肢肌肉过度生长”并不像之前认为的那么罕见。这种过度生长综合征是独特的，由体细胞PIK3CA突变c.3140A>G引起。
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