Aim: To identify a gene linking microphthalmia with cyst with early onset medu lloblastoma. Methods: Mutation analysis of the PTCH gene. Results: A mutation in exon 10 of the PTCH genewas identified, confirming a diag...Aim: To identify a gene linking microphthalmia with cyst with early onset medu lloblastoma. Methods: Mutation analysis of the PTCH gene. Results: A mutation in exon 10 of the PTCH genewas identified, confirming a diagnosis ofGorlin syndrom e. Conclusions: This is the first genetically identified mutation giving rise to microphthalmiawith cyst and provides a valuable link in the eye developmental g ene pathway.展开更多
Background: Gorlin-Goltz syndrome is a very rare syndrome that reportedly occurs in 1 of 235,800 people in Japan. The proportion of women with Gorlin-Goltz syndrome complicated with an ovarian fibroma ranges from 12.5...Background: Gorlin-Goltz syndrome is a very rare syndrome that reportedly occurs in 1 of 235,800 people in Japan. The proportion of women with Gorlin-Goltz syndrome complicated with an ovarian fibroma ranges from 12.5% to 17.0%. Some surgical cases of Gorlin-Goltz syndrome with an ovarian tumor have been reported. However, no studies have mentioned subsequent fertility preservation by using oocyte cryopreservation process. Case: In this case report, the patient with Gorlin-Goltz syndrome underwent laparotomy for bilateral ovarian fibrothecoma at 15 years of age. At 20 years of age, a recurrent ovarian tumor was detected in the remaining ovary. During the follow-up, we detected an increase in its size. As tumor torsion requiring left salpingo-oophorectomy was possible, tumorectomy was considered. However, her anti-Müllerian hormone level was low. As she was at risk for premature ovarian failure after tumorectomy, we planned to cryopreserve her oocytes to preserve her fertility before tumorectomy. Outcome: When the patient underwent surgery, the diameter of her left ovarian tumor was found to have increased to 56 mm. Egg collection was performed twice, and two oocytes were cryopreserved. Subsequently, she underwent tumorectomy of the left ovarian tumor. No recurrence has been observed. Conclusion: If a recurrent ovarian tumor is detected in patients with Gorlin-Goltz syndrome and a low anti-Müllerian hormone level, cryopreservation of oocytes before tumorectomy may be effective for preserving their fertility.展开更多
Nevoid basal cell carcinoma, known as Gorlin Goltz Syndrome, is a rare hereditary condition, characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. In this report, we discuss a...Nevoid basal cell carcinoma, known as Gorlin Goltz Syndrome, is a rare hereditary condition, characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. In this report, we discuss a case of a patient with Gorlin Goltz Syndrome, who was 16 years old when first admitted for an initial appointment. The patient was diagnosed, treated and followed up for 7 years to present day. This syndrome is associated with a broad spectrum of anomalies and neoplasms as basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri. It affects multiple organ systems, which include skeletal, teeth, jaw, skin, eyes, reproductive organs, and neural system. All the features however, are rarely observed in a single patient. The following paper presents the significance of early diagnosis of Gorlin Goltz Syndrome and the importance of a multidisciplinary approach in providing proper treatment for the patient.展开更多
<b><span style="font-family:Verdana;">Background: </span></b><span style="font-family:Verdana;">The calcifying odontogenic cyst (COC) is a rare pathological entity. It...<b><span style="font-family:Verdana;">Background: </span></b><span style="font-family:Verdana;">The calcifying odontogenic cyst (COC) is a rare pathological entity. It falls into a group of lesions with calcifications that present benign and sometime malignant tumor variants. </span><b><span style="font-family:Verdana;">Case Presentation: </span></b><span style="font-family:Verdana;">In the present study, we report on a case of intraosseous/intrasinusal COC with impacted maxillary canine and dentinoid structures odontoma-like. The clinical, radiographical, histopathological, and molecular characteristics of this pathological entity are discussed in relation also to the problems of differential diagnosis, treatment, and prognosis. </span><b><span style="font-family:Verdana;">Conclusion: </span></b><span style="font-family:Verdana;">The true COC is a rare entity in the oral cavity and represents about less than 1% of all odontogenic lesions. Careful clinical, instrumental and histological analysis must be performed for odontogenic cysts in order to accomplish the correct surgical act and to avoid recurrence. <p> <br /> </p> </span>展开更多
近年来,遗传性肿瘤综合征在女性生殖系统肿瘤中的表现受到了广泛关注,很多研究集中在遗传性乳腺/卵巢癌综合征（hereditary breast-ovarian cancer syndrome,HBOCS）以及Lynch综合征相关子宫内膜癌.除了HBOCS及Lynch综合征以外,还存在...近年来,遗传性肿瘤综合征在女性生殖系统肿瘤中的表现受到了广泛关注,很多研究集中在遗传性乳腺/卵巢癌综合征（hereditary breast-ovarian cancer syndrome,HBOCS）以及Lynch综合征相关子宫内膜癌.除了HBOCS及Lynch综合征以外,还存在一些较为罕见的遗传性恶性肿瘤疾病,例如Cowden综合征、Peutz-Jeghers综合征、DICER1综合征、结节硬化症、Gorlin综合征、遗传性平滑肌瘤和肾细胞癌等.虽然它们的首发肿瘤并不一定在女性生殖系统中,但也常会累及妇科系统中重要的组织器官,引发恶性肿瘤.我们归纳并总结了上述几种肿瘤综合征在妇科系统中的表现,包括疾病的发生机制、遗传学背景、基因改变以及病理学特征.展开更多
文摘Aim: To identify a gene linking microphthalmia with cyst with early onset medu lloblastoma. Methods: Mutation analysis of the PTCH gene. Results: A mutation in exon 10 of the PTCH genewas identified, confirming a diagnosis ofGorlin syndrom e. Conclusions: This is the first genetically identified mutation giving rise to microphthalmiawith cyst and provides a valuable link in the eye developmental g ene pathway.
文摘Background: Gorlin-Goltz syndrome is a very rare syndrome that reportedly occurs in 1 of 235,800 people in Japan. The proportion of women with Gorlin-Goltz syndrome complicated with an ovarian fibroma ranges from 12.5% to 17.0%. Some surgical cases of Gorlin-Goltz syndrome with an ovarian tumor have been reported. However, no studies have mentioned subsequent fertility preservation by using oocyte cryopreservation process. Case: In this case report, the patient with Gorlin-Goltz syndrome underwent laparotomy for bilateral ovarian fibrothecoma at 15 years of age. At 20 years of age, a recurrent ovarian tumor was detected in the remaining ovary. During the follow-up, we detected an increase in its size. As tumor torsion requiring left salpingo-oophorectomy was possible, tumorectomy was considered. However, her anti-Müllerian hormone level was low. As she was at risk for premature ovarian failure after tumorectomy, we planned to cryopreserve her oocytes to preserve her fertility before tumorectomy. Outcome: When the patient underwent surgery, the diameter of her left ovarian tumor was found to have increased to 56 mm. Egg collection was performed twice, and two oocytes were cryopreserved. Subsequently, she underwent tumorectomy of the left ovarian tumor. No recurrence has been observed. Conclusion: If a recurrent ovarian tumor is detected in patients with Gorlin-Goltz syndrome and a low anti-Müllerian hormone level, cryopreservation of oocytes before tumorectomy may be effective for preserving their fertility.
文摘Nevoid basal cell carcinoma, known as Gorlin Goltz Syndrome, is a rare hereditary condition, characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. In this report, we discuss a case of a patient with Gorlin Goltz Syndrome, who was 16 years old when first admitted for an initial appointment. The patient was diagnosed, treated and followed up for 7 years to present day. This syndrome is associated with a broad spectrum of anomalies and neoplasms as basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri. It affects multiple organ systems, which include skeletal, teeth, jaw, skin, eyes, reproductive organs, and neural system. All the features however, are rarely observed in a single patient. The following paper presents the significance of early diagnosis of Gorlin Goltz Syndrome and the importance of a multidisciplinary approach in providing proper treatment for the patient.
文摘<b><span style="font-family:Verdana;">Background: </span></b><span style="font-family:Verdana;">The calcifying odontogenic cyst (COC) is a rare pathological entity. It falls into a group of lesions with calcifications that present benign and sometime malignant tumor variants. </span><b><span style="font-family:Verdana;">Case Presentation: </span></b><span style="font-family:Verdana;">In the present study, we report on a case of intraosseous/intrasinusal COC with impacted maxillary canine and dentinoid structures odontoma-like. The clinical, radiographical, histopathological, and molecular characteristics of this pathological entity are discussed in relation also to the problems of differential diagnosis, treatment, and prognosis. </span><b><span style="font-family:Verdana;">Conclusion: </span></b><span style="font-family:Verdana;">The true COC is a rare entity in the oral cavity and represents about less than 1% of all odontogenic lesions. Careful clinical, instrumental and histological analysis must be performed for odontogenic cysts in order to accomplish the correct surgical act and to avoid recurrence. <p> <br /> </p> </span>
文摘近年来,遗传性肿瘤综合征在女性生殖系统肿瘤中的表现受到了广泛关注,很多研究集中在遗传性乳腺/卵巢癌综合征（hereditary breast-ovarian cancer syndrome,HBOCS）以及Lynch综合征相关子宫内膜癌.除了HBOCS及Lynch综合征以外,还存在一些较为罕见的遗传性恶性肿瘤疾病,例如Cowden综合征、Peutz-Jeghers综合征、DICER1综合征、结节硬化症、Gorlin综合征、遗传性平滑肌瘤和肾细胞癌等.虽然它们的首发肿瘤并不一定在女性生殖系统中,但也常会累及妇科系统中重要的组织器官,引发恶性肿瘤.我们归纳并总结了上述几种肿瘤综合征在妇科系统中的表现,包括疾病的发生机制、遗传学背景、基因改变以及病理学特征.
