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21.
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas
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![点击此处可从《International journal of cancer. Journal international du cancer》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Isabel Spier Stefanie Holzapfel Janine Altmüller Bixiao Zhao Sukanya Horpaopan Stefanie Vogt Sophia Chen Monika Morak Susanne Raeder Katrin Kayser Dietlinde Stienen Ronja Adam Peter Nürnberg Guido Plotz Elke Holinski‐Feder Richard P. Lifton Holger Thiele Per Hoffmann Verena Steinke Stefan Aretz 《International journal of cancer. Journal international du cancer》2015,137(2):320-331
In a number of families with colorectal adenomatous polyposis or suspected Lynch syndrome/HNPCC, no germline alteration in the APC, MUTYH, or mismatch repair (MMR) genes are found. Missense mutations in the polymerase genes POLE and POLD1 have recently been identified as rare cause of multiple colorectal adenomas and carcinomas, a condition termed polymerase proofreading‐associated polyposis (PPAP). The aim of the present study was to evaluate the clinical relevance and phenotypic spectrum of polymerase germline mutations. Therefore, targeted sequencing of the polymerase genes POLD1, POLD2, POLD3, POLD4, POLE, POLE2, POLE3 and POLE4 was performed in 266 unrelated patients with polyposis or fulfilled Amsterdam criteria. The POLE mutation c.1270C>G;p.Leu424Val was detected in four unrelated patients. The mutation was present in 1.5% (4/266) of all patients, 4% (3/77) of all familial cases and 7% (2/30) of familial polyposis cases. The colorectal phenotype in 14 affected individuals ranged from typical adenomatous polyposis to a HNPCC phenotype, with high intrafamilial variability. Multiple colorectal carcinomas and duodenal adenomas were common, and one case of duodenal carcinoma was reported. Additionally, various extraintestinal lesions were evident. Nine further putative pathogenic variants were identified. The most promising was c.1306C>T;p.Pro436Ser in POLE. In conclusion, a PPAP was identified in a substantial number of polyposis and familial colorectal cancer patients. Screening for polymerase proofreading mutations should therefore be considered, particularly in unexplained familial cases. The present study broadens the phenotypic spectrum of PPAP to duodenal adenomas and carcinomas, and identified novel, potentially pathogenic variants in four polymerase genes. 相似文献
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Suzanna Lindsey-Temple Matt Edwards Verena Rickassel Theresa Nauth Georg Rosenberger 《European journal of human genetics : EJHG》2022,30(9):1088
Costello syndrome (CS) is caused by heterozygous HRAS germline mutations. Most patients share the HRAS variant p.Gly12Ser that is associated with a typical, homogeneous phenotype. Rarer pathogenic HRAS variants (e.g., p.Thr56Ile) were identified in individuals with attenuated CS phenotypes. The obvious phenotypical variability reflects different dysfunctional consequences of distinct HRAS variants. We report on two boys with the novel de novo HRAS variant c.466 C > T p.(Phe156Leu). Both had severe feeding difficulties, airway obstruction and developmental delay, which are typical findings in CS. They showed subtle facial and dermatologic features consistent with attenuated CS. They significantly differed in their musculoskeletal, cardiovascular and endocrinologic manifestations underscoring the clinical variability of individuals with identical, in particular rarer pathogenic HRAS variants. Functional studies revealed enhanced effector-binding, increased downstream signaling activation and impaired growth factor-induced signaling dynamics in cells expressing HRASPhe156Leu. Our data further illustrate the molecular and phenotypic variability of CS.Subject terms: Genetics research, Disease genetics 相似文献
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Tilman Pfeffer Susanne M. Krug Tamara Kracke Robin Schürfeld Florian Colbatzky Philip Kirschner Rebekka Medert Marc Freichel Dagmar Schumacher Maria Bartosova Sotiris G. Zarogiannis Martina U. Muckenthaler Sandro Altamura Silvia Pezer Nadine Volk Constantin Schwab Stefan Duensing Thomas Fleming Elena Heidenreich Johannes Zschocke Rüdiger Hell Gernot Poschet Claus P. Schmitt Verena Peters 《Acta physiologica (Oxford, England)》2024,240(4):e14126
27.
Stefan Pilz Verena Theiler-Schwetz Pawel Pludowski Sieglinde Zelzer Andreas Meinitzer Spyridon N. Karras Waldemar Misiorowski Armin Zittermann Winfried Mrz Christian Trummer 《Nutrients》2022,14(12)
Pathogenic mutations of CYP24A1 lead to an impaired catabolism of vitamin D metabolites and should be considered in the differential diagnosis of hypercalcemia with low parathyroid hormone concentrations. Diagnosis is based on a reduced 24,25-dihydroxyvitamin D to 25-hydroxyvitamin D ratio and confirmed by genetic analyses. Pregnancy is associated with an upregulation of the active vitamin D hormone calcitriol and may thus particularly trigger hypercalcemia in affected patients. We present a case report and a narrative review of pregnant women with CYP24A1 mutations (13 women with 29 pregnancies) outlining the laboratory and clinical characteristics during pregnancy and postpartum and the applied treatment approaches. In general, pregnancy triggered hypercalcemia in the affected women and obstetric complications were frequently reported. Conclusions on drugs to treat hypercalcemia during pregnancy are extremely limited and do not show clear evidence of efficacy. Strictly avoiding vitamin D supplementation seems to be effective in preventing or reducing the degree of hypercalcemia. Our case of a 24-year-old woman who presented with hypercalcemia in the 24th gestational week delivered a healthy baby and hypercalcemia resolved while breastfeeding. Pathogenic mutations of CYP24A1 mutations are rare but should be considered in the context of vitamin D supplementation during pregnancy. 相似文献
28.
Sorafenib and azacitidine as salvage therapy for relapse of FLT3‐ITD mutated AML after allo‐SCT
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Right heart function in impaired left ventricular diastolic function: 2D speckle tracking echocardiography–based and Doppler tissue imaging–based analysis of right atrial and ventricular function
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![点击此处可从《Echocardiography (Mount Kisco, N.Y.)》网站下载免费的PDF全文](/ch/ext_images/free.gif)
Anna Brand MD Marny Bathe Sabine Oertelt‐Prigione MScPH Ute Seeland MD Mirjam Rücke MSc Vera Regitz‐Zagrosek MD Karl Stangl MD Fabian Knebel MD Verena Stangl MD Henryk Dreger MD 《Echocardiography (Mount Kisco, N.Y.)》2018,35(1):47-55