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Berlin, Germany

Haverkaemper S.,Klinikum Neukoelln | Marquardt T.,University Hospital | Hausser I.,University of Heidelberg | Timme K.,Klinikum Neukoelln | And 3 more authors.

This paper describes a neonate with type II Gaucher disease. The phenotype was unusually severe with congenital ichthyosis, hepatosplenomegaly, muscular hypotonia, myoclonus and respiratory failure. Electron microscopy of the skin revealed lamellar body contents in the stratum corneum interstices, appearances considered to be typical of type II Gaucher disease. The baby died from respiratory failure 1 month postpartum having made no neurological progress. Molecular analysis identified a previously not reported homozygous null mutation, c.1505G→A of the β-glucocerebrosidase gene. Copyright © 2011 S. Karger AG, Basel. Source

Sedlmayer F.,Paracelsus Medical University | Sautter-Bihl M.-L.,Klinik fur Radioonkologie und Strahlentherapie | Budach W.,Heinrich Heine University Dusseldorf | Dunst J.,University of Lubeck | And 8 more authors.
Strahlentherapie und Onkologie

Background and purpose: The aim of the present paper is to update the practical guidelines for postoperative adjuvant radiotherapy of breast cancer published in 2007 by the breast cancer expert panel of the German Society for Radiooncology (Deutsche Gesellschaft für Radioonkologie, DEGRO). The present recommendations are based on a revision of the German interdisciplinary S-3 guidelines published in July 2012. Methods: A comprehensive survey of the literature concerning radiotherapy following breast conserving therapy (BCT) was performed using the search terms "breast cancer", "radiotherapy", and "breast conserving therapy". Data from lately published meta-analyses, recent randomized trials, and guidelines of international breast cancer societies, yielding new aspects compared to 2007, provided the basis for defining recommendations according to the criteria of evidence-based medicine. In addition to the more general statements of the DKG (Deutsche Krebsgesellschaft), this paper addresses indications, target definition, dosage, and technique of radiotherapy of the breast after conservative surgery for invasive breast cancer. Results: Among numerous reports on the effect of radiotherapy during BCT published since the last recommendations, the recent EBCTCG report builds the largest meta-analysis so far available. In a 15 year follow-up on 10,801 patients, whole breast irradiation (WBI) halves the average annual rate of disease recurrence (RR 0.52, 0.48-0.56) and reduces the annual breast cancer death rate by about one sixth (RR 0.82, 0.75-0.90), with a similar proportional, but different absolute benefit in prognostic subgroups (EBCTCG 2011). Furthermore, there is growing evidence that risk-adapted dose augmentation strategies to the tumor bed as well as the implementation of high precision RT techniques (e.g., intraoperative radiotherapy) contribute substantially to a further reduction of local relapse rates. A main focus of ongoing research lies in partial breast irradiation strategies as well as WBI hypofractionation schedules. The potential of both in replacing normofractionated WBI has not yet been finally clarified. Conclusion: After breast conserving surgery, no subgroup even in low risk patients has yet been identified for whom radiotherapy can be safely omitted without compromising local control and, hence, cancer-specific survival. In most patients, this translates into an overall survival benefit. © 2013 The Authors. Source

Sautter-Bihl M.L.,Klinik fur Radioonkologie und Strahlentherapie | Sedlmayer F.,Paracelsus Medical University | Budach W.,Heinrich Heine University Dusseldorf | Dunst J.,University of Lubeck | And 8 more authors.
Strahlentherapie und Onkologie

Background: Although postoperative radiotherapy (RT) after breast-conserving surgery (BCS) halves the 10-year recurrence rate in breast cancer patients through all age groups, the question of whether RT may be omitted and replaced by endocrine therapy for women aged 70 years and older with low-risk factors has recently become an issue of debate. Methods: Survey of the relevant recent literature (Medline) and international guidelines. Results: Three randomized studies investigating the effect of RT in older women revealed significantly increased local recurrence rates when RT was omitted, and a negative impact on disease-free survival was observed in two of these trials. Despite these findings, in one of the studies omission of RT in women over 70 is recommended, leading to a respective amendment in the guidelines of the American National Comprehensive Cancer Network. Several large retrospective cohort studies analyzing the outcome of patients over 65 years with and without RT have since been published and showed a significantly improved local control in all subgroups of advanced age and stage, which predominantly translated into improved disease-free and overall survival. Conclusion: No subgroup of elderly patients has yet been identified that did not profit from RT in terms of local control. Therefore, chronological age alone is not an appropriate criterion for deciding against or in favor of adjuvant RT. The DEGRO breast cancer expert panel explicitly discourages determination of a certain age for the omission of postoperative RT in healthy elderly women with low-risk breast cancer. For frail elderly women, treatment decisions should be individually decided on the basis of standardized geriatric assessment. © 2012 Urban & Vogel. Zusammenfassung: Hintergrund: Nach brusterhaltender Operation wird die 10-Jahres-Rezidivrate bei Brustkrebspatientinnen sämtlicher Altersgruppen durch eine postoperative Radiotherapie (RT) halbiert. Dennoch ist neuerdings eine Kontroverse darüber entbrannt, ob bei Frauen über 70 Jahre mit niedrigem Risikoprofil auf die RT verzichtet und stattdessen eine endokrine Therapie erfolgen solle. Methoden: Literaturrecherche der kürzlich zu diesem Thema publizierten Studien (Medline) und internationaler Leitlinien. Resultate: In drei randomisierten Studien wurde die Effektivität der RT bei älteren Frauen untersucht und zeigte eine signifikant höhere Lokalrezidivrate bei Nichtbestrahlten sowie in zwei dieser Studien einen negativen Einfluss auf das krankheitsfreie Überleben. Dennoch wurde in einer Publikation der Verzicht auf eine RT bei >70-Jährigen empfohlen, was als Ergänzung in die aktuellen amerikanischen National-Comprehensive- Cancer-Network-Leitline übernommen wurde. Seitdem wurde in mehreren umfangreichen Kohortenstudien der Verlauf von Patientinnen >65 Jahre mit und ohne RT ausgewertet, wobei sich in sämtlichen Alterssubgruppen und Tumorstadien der >65-Jährigen eine signifikant verbesserte lokale Tumorkontrolle nach RT zeigte, die überwiegend auch zu einem verlängerten rezidivfreien und Gesamtüberleben führte. Schussfolgerung: Bislang wurde keine Subgruppe älterer Patientinnen identifiziert, die nicht durch Senkung der Lokalrezidivrate von einer RT profitierten. Die DEGRO-Expertengruppe Mammakarzinom sieht deshalb das kalendarische Alter allein nicht als hinreichendes Entscheidungskriterium gegen eine RT, diese sollte deshalb älteren Patientinnen in gutem Allgemeinzustand nicht vorenthalten werden. Bei gebrechlichen Älteren ist eine individuelle Entscheidung anhand eines standardisierten geriatrischen Assessments zu treffen. © 2012 Urban & Vogel. Source

Souchon R.,University of Tubingen | Sautter-Bihl M.-L.,Municipal Hospital Karlsruhe | Sedlmayer F.,Paracelsus Medical University | Budach W.,Heinrich Heine University Dusseldorf | And 7 more authors.
Strahlentherapie und Onkologie

Purpose: To complement and update the 2007 practice guidelines of the breast cancer expert panel of the German Society of Radiation Oncology (DEGRO) for radiotherapy (RT) of breast cancer. Owing to its growing clinical relevance, in the current version, a separate paper is dedicated to non-invasive proliferating epithelial neoplasia of the breast. In addition to the more general statements of the German interdisciplinary S3 guidelines, this paper is especially focused on indication and technique of RT in addition to breast conserving surgery. Methods: The DEGRO expert panel performed a comprehensive survey of the literature comprising recently published data from clinical controlled trials, systematic reviews as well as meta-analyses, referring to the criteria of evidence-based medicine yielding new aspects compared to 2005 and 2007. The literature search encompassed the period 2008 to September 2012 using databases of PubMed and Guidelines International Network (G-I-N). Search terms were "non invasive breast cancer", "ductal carcinoma in situ, "dcis", "borderline breast lesions", "lobular neoplasia", "radiotherapy" and "radiation therapy". In addition to the more general statements of the German interdisciplinary S3 guidelines, this paper is especially focused on indications of RT and decision making of non-invasive neoplasia of the breast after surgery, especially ductal carcinoma in situ. Results: Among different non-invasive neoplasia of the breast only the subgroup of pure ductal carcinoma in situ (DCIS; synonym ductal intraepithelial neoplasia, DIN) is considered for further recurrence risk reduction treatment modalities after complete excision of DCIS, particularly RT following breast conserving surgery (BCS), in order to avoid a mastectomy. About half of recurrences are invasive cancers. Up to 50 % of all recurrences require salvage mastectomy. Randomized clinical trials and a huge number of mostly observational studies have unanimously demonstrated that RT significantly reduces recurrence risks of ipsilateral DCIS as well as invasive breast cancer independent of patient age in all subgroups. The recommended total dose is 50 Gy administered as whole breast irradiation (WBI) in single fractions of 1.8 or 2.0 Gy given on 5 days weekly. Retrospective data indicate a possible beneficial effect of an additional tumor bed boost for younger patients. Prospective clinical trials of different dose-volume concepts (hypofractionation, accelerated partial breast irradiation, boost radiotherapy) are still ongoing. Conclusion: Postoperative radiotherapy permits breast conservation for the majority of women by halving local recurrence as well as reducing progression rates into invasive cancer. New data confirmed this effect in all patient subsets - even in low risk subgroups (LoE 1a). © 2013 Springer Heidelberg Berlin. Source

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