- The Wolf-Hirschhorn Syndrome in Fetal Autopsy: A Case Report.
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Sun Ju Byeon, Jae Kyung Myung, Sung Hye Park
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Korean J Pathol. 2011;45:S15-S19.
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DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.S1.S15
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 Abstract
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- Wolf-Hirschhorn syndrome (WHS) is a malformation associated with a hemizygous deletion of the distal short arm of chromosome 4. Herein we report a fetal autopsy case of WHS.
A male fetus was therapeutically aborted at 17(+0) weeks gestational age, due to complex anomaly and intrauterine growth retardation, which were found in prenatal ultrasonography. His birth weight was 65 g. Mild craniofacial dysmorphism, club feet, bilateral renal hypoplasia, edematous neck, and left diaphragmatic hernia of Bochdalek were found on gross examination. On GTG-banding, the fetus revealed 46,XY,add(4p) karyotype and the mother revealed 46,XX,t(4;18)(p16;q21.1), with normal karyotype of the father. Array comparative genomic hybridization performed on the autopsied lung tissue revealed loss of 4p16.2-->4pter and gain of 18q21.1-->18qter, suggesting 46,XY,der(4)t(4;18)(p16.2;q21.1)mat of fetal karyotype. This suggested deletion of 4p, compatible with WHS inherited from the mal-segregation of a maternal translocation t(4;18)(p16.2;21.1). Therefore, our fetus was both genotypically and phenotypically compatible with WHS.
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Citations
Citations to this article as recorded by  - A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
Bong Sul Suh, Keun Hyeok Ko, Kon Hee Lee, Tae-Jung Sung
Neonatal Medicine.2015; 22(4): 233. CrossRef - Rhabdoid glioblastoma is distinguishable from classical glioblastoma by cytogenetics and molecular genetics
Sun-Ju Byeon, Hwa Jin Cho, Hae Woon Baek, Chul-Kee Park, Seung-Hong Choi, Se-Hoon Kim, Hee Kyung Kim, Sung-Hye Park
Human Pathology.2014; 45(3): 611. CrossRef
- The Prognostic Implications of Cystic Change in Clear Cell Renal Cell Carcinoma.
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Heae Surng Park, Eun Jung Jung, Jae Kyung Myung, Kyung Chul Moon
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Korean J Pathol. 2010;44(2):149-154.
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DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.2.149
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4,754
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Abstract
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- BACKGROUND
Cystic renal cell carcinoma has been reported to have a good prognosis. However, previous studies included cases of multilocular cystic renal cell carcinoma, which has an excellent prognosis, and renal cell carcinoma with cystic necrosis, which has an adverse prognosis. Therefore, we analyzed the prognostic influence of cystic change in clear cell renal cell carcinoma after excluding those morphological features.
METHODS
We identified 225 patients with clear cell renal cell carcinoma who underwent nephrectomy between 2001 and 2003. The clinicopathologic features were compared with clinical outcomes.
RESULTS
Cystic change in clear cell renal cell carcinoma (n = 66) was significantly associated with younger patient age (< 55), smaller tumor size (< or = 4 cm), lower pT stage (pT1, T2), M0 stage at initial diagnosis, lower tumor, node, and metastasis stage (I, II), and lower nuclear grade (1, 2). Patients with cystic change in clear cell renal cell carcinoma had significantly longer cancer-specific (p = 0.015) and progression-free survival (p = 0.004) than those without cystic change, by univariate analysis. Multivariate analysis revealed that cystic change significantly decreased the risk of cancer progression (risk ratio, 0.27; 95% confidence interval, 0.11 to 0.69).
CONCLUSIONS
In patients with clear cell renal cell carcinoma, cystic change is a good independent predictor for survival.
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Citations
Citations to this article as recorded by - Update on MRI of Cystic Renal Masses Including Bosniak Version 2019
Satheesh Krishna, Nicola Schieda, Ivan Pedrosa, Nicole Hindman, Ronaldo H. Baroni, Stuart G. Silverman, Matthew S. Davenport
Journal of Magnetic Resonance Imaging.2021; 54(2): 341. CrossRef - Klotho plays a critical role in clear cell renal cell carcinoma progression and clinical outcome
Ji-Hee Kim, Kyu-Hee Hwang, Sayamaa Lkhagvadorj, Jae Hung Jung, Hyun Chul Chung, Kyu-Sang Park, In Deok Kong, Minseob Eom, Seung-Kuy Cha
The Korean Journal of Physiology & Pharmacology.2016; 20(3): 297. CrossRef - Insulin Receptor Expression in Clear Cell Renal Cell Carcinoma and Its Relation to Prognosis
Sayamaa Lkhagvadorj, Sung Soo Oh, Mi-Ra Lee, Jae Hung Jung, Hyun Chul Chung, Seung-Kuy Cha, Minseob Eom
Yonsei Medical Journal.2014; 55(4): 861. CrossRef - Determination of the Cutoff Value of the Proportion of Cystic Change for Prognostic Stratification of Clear Cell Renal Cell Carcinoma
Heae Surng Park, Kyoungbun Lee, Kyung Chul Moon
Journal of Urology.2011; 186(2): 423. CrossRef
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