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Ji Hoon Phi, Seung-Ki Kim, Joongyub Lee, Chul-Kee Park, Il Han Kim, Hyo Seop Ahn, Hee Young Shin, In-One Kim, Hee-Won Jung, Dong Gyu Kim, Sun Ha Paek and Kyu-Chang Wang

Object

Intracranial germ cell tumors (GCTs) frequently present with bifocal lesions in both the suprasellar and pineal areas. The pathogenesis of these bifocal GCTs has been the subject of controversy. Bifocal GCTs may be caused by synchronous tumors or by metastatic spread of tumor cells from one site to the other. The prognosis associated with bifocal GCTs has also been a cause of concern.

Methods

The authors constructed a single-institution patient cohort comprising 181 patients with intracranial GCTs. The clinical characteristics of bifocal GCTs were compared with those of suprasellar and pineal GCTs.

Results

Bifocal GCTs were observed in 23 patients (12.8%). Eighteen patients presented with bifocal GCTs that were diagnosed as germinomas, but 5 patients exhibited mixed GCTs. Analyses of age distributions and comparisons of tumor sizes were compatible with a model of a metastatic origin of bifocal GCTs. Eleven patients (47.8%) presenting with bifocal GCTs exhibited tumor seeding at presentation. Tumor seeding was significantly associated with bifocal lesions (p < 0.001). Patients with bifocal germinomas showed significantly shorter event-free survival and overall survival than did those presenting with germinomas from a single site of origin.

Conclusions

Bifocal GCTs are not restricted to germinomas, as had been previously reported, but do include mixed GCTs. The authors hypothesize that bifocal GCTs may result from the metastatic spread of suprasellar or pineal GCTs. The bifocal presentation of germinomas may be a poor prognostic sign and should alert clinicians to the possibility of a disseminated disease.

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Ji Hoon Phi, Jung Won Choi, Moon-Woo Seong, Tackeun Kim, Youn Joo Moon, Joongyub Lee, Eun Jung Koh, Seul Ki Ryu, Tae Hee Kang, Jae Seung Bang, Chang Wan Oh, Sung Sup Park, Ji Yeoun Lee, Kyu-Chang Wang and Seung-Ki Kim

OBJECTIVE

In a minority of patients with neurofibromatosis Type 1 (NF-1), cerebral vasculopathy reminiscent of moyamoya disease develops. This phenomenon is called moyamoya syndrome (MMS), but there are no known risk factors for the prediction of MMS in NF-1 patients. Polymorphism of the RNF213 gene has exhibited strong associations with familial and sporadic moyamoya disease and other cerebral vasculopathies. The aim of this study is to find whether the RNF213 c.14576G>A variant is associated with MMS development in the NF-1 population or not.

METHODS

The MMS group included 16 NF-1 patients with documented MMS. The control group consisted of 97 NF-1 patients without MMS. Genomic DNA samples were obtained from the saliva or blood of both groups, and the presence of the RNF213 c.14576G>A variant was assessed by Sanger sequencing.

RESULTS

In the MMS group, 3 patients had the RNF213 c.14576G>A variant (18.7%), whereas no patients with this genetic variation were observed in the control group (0%). There was a meaningful association between the RNF213 c.14576G>A variant and MMS development (p = 0.0024). The crude odds ratio was calculated as 50.57 (95% CI 1.57–1624.41). All 3 patients with MMS and the c.14576G>A variant were diagnosed with MMS at an early age and had bilateral involvement.

CONCLUSIONS

The RNF213 c.14576G>A variant is more common in NF-1 patients who develop MMS than in NF-1 patients without MMS. This variant might be a susceptibility gene for the NF-1–moyamoya connection.

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Joongyub Lee, Seung-Ki Kim, Hee Gyung Kang, Il-Soo Ha, Kyu-Chang Wang, Ji Yeoun Lee and Ji Hoon Phi

OBJECTIVE

Although an association between moyamoya disease (MMD) and renovascular hypertension has been acknowledged, the literature on systemic hypertension without renal artery stenosis among patients with MMD is scarce. The authors aimed to evaluate the prevalence and risk factors of hypertension using data from MMD patients who visited an outpatient clinic of a pediatric neurosurgical department in 2016.

METHODS

The authors evaluated the blood pressure (BP) of pediatric MMD patients at their postsurgical appointment following the American Academy of Pediatrics clinical practice guideline on high BP, in which hypertension was defined as BP measurements higher than the value of age-, sex-, and height-specific 95th percentile of the general population from at least 3 separate visits. Growth of patients was determined using 2017 Korean National Growth Charts for children and adolescents. The cutoff value of the 95th percentile of BP was determined by referring to normative BP tables of Korean children and adolescents. A logistic regression model was used to assess the associations between patients’ clinical characteristics and prevalent hypertension.

RESULTS

In total, 131 surgically treated pediatric MMD patients were included, of whom 38.9% were male and the median age at diagnosis was 8.0 years (range 1.2–15.0 years). The definition of hypertension was met in 38 patients, with a prevalence of 29.0% (95% CI 21.2%–36.8%). A tendency was observed for a higher prevalence of hypertension in male patients (31.4%), in patients with posterior cerebral artery (PCA) involvement (47.8%), and in cases in which infarction was shown on initial MRI (37.3%). Age at diagnosis (adjusted OR [aOR] 0.82, 95% CI 0.70–0.97), PCA involvement (aOR 3.81, 95% CI 1.29–11.23), body mass index (aOR 1.30, 95% CI 1.13–1.51), and years of follow-up since surgery (aOR 0.80, 95% CI 0.68–0.94) were related to systemic hypertension.

CONCLUSIONS

A high prevalence of hypertension was demonstrated in pediatric MMD patients. Therefore, adequate attention should be paid to reduce BP and prevent subsequent events.