Jimbo Takahiro, Masumoto Kouji, Urita Yasuhisa, Takayasu Hajime, Shinkai Toko, Uesugi Toru, Gotoh Chikashi, Sakamoto Naoya, Sasaki Takato, Oto Tatsuyuki, Fukushima Takashi, Noguchi Emiko, Nakano Yoshiro
Department of Pediatric Surgery, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, 305-8576, Japan,
Eur J Pediatr. 2014 May;173(5):667-70. doi: 10.1007/s00431-013-2200-7. Epub 2013 Nov 21.
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by basal cell carcinoma, skeletal abnormalities, benign tumors including ovarian fibroma, and various other phenotypic expressions. Ovarian fibromas in NBCCS before puberty are very rare. We report a 6-year-old prepubescent girl with NBCCS showing skeletal abnormalities, medulloblastoma, and ovarian fibromas. The patient was referred to our hospital owing to abdominal distension. On admission, a huge elastic hard tumor was palpable and computed tomography showed a huge tumor of the left ovary. We performed a left salpingo-oophorectomy and diagnosed the tumor as a benign fibroma. Further examination of the computed tomography images showed skeletal abnormalities. In addition, the patient had a history of medulloblastoma at the age of 4 years. Therefore, we diagnosed NBCCS. A genetic examination indicated a novel 1 bp deletion in exon 18 (c.3055delG). Sequence analysis of exon 18 using DNA from the ovarian tumor revealed a mutant allele (c.3055delG) dominant to the wild-type allele, thus suggesting loss of heterozygosity in the PTCH1 gene, which is known to be associated with NBCCS. Conclusion On the basis of our experience, physicians treating pediatric ovarian tumors should be aware that such huge benign ovarian tumors may be a phenotype of NBCCS, as shown in our patient. In addition, genetic examination focusing on the PTCH1 gene might be important for diagnosis of NBCCS in pediatric patients.
痣样基底细胞癌综合征（NBCCS）的特征包括基底细胞癌、骨骼异常、包括卵巢纤维瘤在内的良性肿瘤以及各种其他表型表现。青春期前NBCCS患者出现卵巢纤维瘤的情况非常罕见。我们报告了一名6岁青春期前患有NBCCS的女孩，她有骨骼异常、髓母细胞瘤和卵巢纤维瘤。该患者因腹胀被转诊至我院。入院时，可触及一个巨大的弹性硬肿块，计算机断层扫描显示左卵巢有一个巨大肿瘤。我们实施了左侧输卵管卵巢切除术，诊断该肿瘤为良性纤维瘤。对计算机断层扫描图像的进一步检查显示存在骨骼异常。此外，该患者在4岁时曾患髓母细胞瘤。因此，我们诊断其患有NBCCS。基因检测显示外显子18存在一个新的1bp缺失（c.3055delG）。利用卵巢肿瘤的DNA对外显子18进行序列分析，发现一个突变等位基因（c.3055delG）对野生型等位基因呈显性，这表明PTCH1基因存在杂合性缺失，已知该基因与NBCCS相关。结论 根据我们的经验，治疗小儿卵巢肿瘤的医生应意识到，如此巨大的良性卵巢肿瘤可能是NBCCS的一种表型，如我们的患者所示。此外，针对PTCH1基因的基因检测对于小儿患者NBCCS的诊断可能很重要。
