caa a22 4500 445330880 CHVBK 20180317142737.0 cr unu---uuuuu 170323e20110901xx s 000 0 eng 10.1007/s10689-011-9455-9 doi (NATIONALLICENCE)springer-10.1007/s10689-011-9455-9 Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families [Elektronische Daten] [Angela Brieger, Knut Engels, Dieter Schaefer, Guido Plotz, Stefan Zeuzem, Jochen Raedle, Joerg Trojan] Lynch syndrome is characterized by germline mutations of the DNA mismatch repair genes MLH1 and MSH2. The tumor spectrum includes early onset colorectal, urogenital and other cancers. Soft tissue sarcomas have been anecdotally reported in patients with Lynch syndrome, but coincidental manifestation could not be excluded. In this report, we screened a cohort of Lynch syndrome families for tumors outside the established tumor spectrum. We identified two patients with Lynch syndrome and a malignant fibrous histiocytoma (MFH). In both families a causative MSH2 germline mutation (MSH2 c.2038C≥T or MSH2 c.942±3A≥T) could be detected. Archival tumor material from both resected MFH was analyzed for microsatellite instability expression of MLH1 and MSH2. A mutator phenotype was detected in both MFH with loss of MSH2 protein expression. Subsequently, the causative MSH2 germline mutation was confirmed in both patients. Of note, both tumors were diagnosed at a local advanced stage but could be curatively resected 21 and 11year ago, respectively. Both patients are alive without local or distant recurrence. In conclusion, our data further support that patients with Lynch syndrome are at increased risk for rare tumors such as MFH. However, the prognosis compared to sporadic MFH seems to be favorable. Springer Science+Business Media B.V., 2011 Lynch syndrome nationallicence DNA mismatch repair nationallicence MSH2 nationallicence Lynch syndrome-associated malignancies nationallicence Malignant fibrous histiocytoma nationallicence MMR : DNA mismatch repair nationallicence MFH : Malignant fibrous histiocytoma nationallicence MSI : Microsatellite instability nationallicence Brieger Angela Medical Clinic 1, Biomedical Research Laboratory, Johann Wolfgang Goethe-University, Frankfurt am Main, Germany aut Engels Knut Senckenbergisches Institute of Pathology, Johann Wolfgang Goethe-University, Frankfurt am Main, Germany aut Schaefer Dieter Institute of Humangenetics, Johann Wolfgang Goethe-University, Frankfurt am Main, Germany aut Plotz Guido Medical Clinic 1, Biomedical Research Laboratory, Johann Wolfgang Goethe-University, Frankfurt am Main, Germany aut Zeuzem Stefan Medical Clinic 1, Biomedical Research Laboratory, Johann Wolfgang Goethe-University, Frankfurt am Main, Germany aut Raedle Jochen Department of Gastroenterology and Nephrology, Westpfalz-Clinic, Kaiserslautern, Germany aut Trojan Joerg Medical Clinic 1, Biomedical Research Laboratory, Johann Wolfgang Goethe-University, Frankfurt am Main, Germany aut Familial Cancer Springer Netherlands 10/3(2011-09-01), 591-595 1389-9600 10:3<591 2011 10 10689 https://doi.org/10.1007/s10689-011-9455-9 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9455-9 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Brieger Angela Medical Clinic 1, Biomedical Research Laboratory, Johann Wolfgang Goethe-University, Frankfurt am Main, Germany aut NATIONALLICENCE 700 1- Engels Knut Senckenbergisches Institute of Pathology, Johann Wolfgang Goethe-University, Frankfurt am Main, Germany aut NATIONALLICENCE 700 1- Schaefer Dieter Institute of Humangenetics, Johann Wolfgang Goethe-University, Frankfurt am Main, Germany aut NATIONALLICENCE 700 1- Plotz Guido Medical Clinic 1, Biomedical Research Laboratory, Johann Wolfgang Goethe-University, Frankfurt am Main, Germany aut NATIONALLICENCE 700 1- Zeuzem Stefan Medical Clinic 1, Biomedical Research Laboratory, Johann Wolfgang Goethe-University, Frankfurt am Main, Germany aut NATIONALLICENCE 700 1- Raedle Jochen Department of Gastroenterology and Nephrology, Westpfalz-Clinic, Kaiserslautern, Germany aut NATIONALLICENCE 700 1- Trojan Joerg Medical Clinic 1, Biomedical Research Laboratory, Johann Wolfgang Goethe-University, Frankfurt am Main, Germany aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/3(2011-09-01), 591-595 1389-9600 10:3<591 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer