96. Jahrestagung der Deutschen Gesellschaft für Pathologie e. V ...

More documents

Recommendations

Info

liver did not correlate with the mutation status. However, the number of CD34, MPO, GlycophorinA and CD61 positive hematopoietic cells varied considerably from case to case and the number of mutated cases was rather small. No mutation could be found in the lung specimens of each autopsy. Conclusions. GATA1 exon 2 mutations are acquired mutations and may occur already in fetal hematopoiesis as early as 13th week of gestation. We could not demonstrate a phenotypic correlation with quantitative fetal liver hematopoiesis. SO-040 Fetal acute myeloid leukemia in Down syndrome causing intrauterine fetal death H . Löser1 , M . Engels1 , S . Huss1 , R . Büttner1 , A . Müller2 , J . Fries1 1 2 University of Cologne, Institute of Pathology, Köln, University of Bonn, Institute for Pathology Aims. Down syndrome (DS) is associated with a 10- to 20-fold higher risk for developing acute leukemia compared to non-DS children. About 10% of DS newborns are diagnosed with a “transient myeloproliferative disorder” (TMD) and up to 30% of these children sustain a progression to an acute myeloid leukemia (AML) within the following 3 years. Methods. We report of a fetal, intrauterine AML in trisomy 21. While no further fetal malformation was recognised in the pervious prenatal screening of the 42-years old woman the fetus died in utero in the 24th week of gestation without any detectable clinical cause. After informed consent was obtained by the mother an autopsy was performed at the Institute of Pathology, University of Cologne. Results. We saw a phenotypically female fetus with an almost gestational age-appropriate development without any apparent anomalies. The internal organs regular, the membranous part of the ventricular septum already closed. Histologically we found extensive tissue and vascular infiltrations with megakaryoblasts in all organs including thymus gland, heart, lungs, liver, pancreas, spleen, adrenal glands, kidneys, intestine, and organs of the lesser pelvis. Immunohistologically positive for CD61, this finding was consistent with an AML FAB-subtype M7. The placenta showed pronounced infiltrations of leukemic cells in the villous vessels, the larger villi and in the umbilical vein. The literature describes mutations of the exon 2 and 3 of the GATA1 gene, an erythroid transcription factor particularly in children with AML and DS. Conclusions. Until now, no data has been published about prenatal GA- TA1-mutations, although this is there most likely point in time of occurrence when AML develops in early childhood. In the present case, we are in the process of analysing whether GATA-1 mutations can be detected in the fetal tissue by sequencing. Considering that the heart was also affected by the massive intra- and extravascular dissemination of AML, it is very likely that this is the crucial reason for the intrauterine fetal demise. In accordance with published literature this is the first report of fetal AML in DS. It extends the spectrum of possible differential diagnosis of intrauterine fetal death in DS. SO-041 On the correlation of coronal clefts and chromosomal aberrations E . Doberenz1 , U . Gembruch2 , R . Schumacher3 , A .M . Müller4 1 2 University Bonn Medical Center, Institute of Pathology, Bonn, University Bonn Medical Center, Dept . of Prenatal Medicine and Obstetrics, Bonn, 3Uni versity Clinic Freiburg, Department of Pediatrics, Freiburg, 4University Bonn, Department of Pediatric Pathology, Bonn Aims. Coronal vertebral clefts, radiologically defined as vertical radiolucent bands in the middle of the vertebral body, are to our observation associated with chromosomal aberrations. Published studies concerning this are missing. Methods. Hence 443 aborted fetuses were studied radiologically concerning the incidence of coronal clefts and their association with proven chromosomal aberrations. Furthermore they were studies histologically concerning remnants of the notochord which are still discussed as cause of coronal clefts. Results. In 44 cases coronal clefts were visualized radiologically. In 93.2% of these fetuses chromosomal aberrations were proven. On the other hand, of all fetuses with trisomy only 30% showed this diagnostic finding. Histologically coronal clefts displayed a missing ossification at the center of the vertebral body. Remnants of the notochord could be excluded. Conclusions. Summing up, coronal clefts represent a retarded ossification of vertebral bodies in fetal development, nearly solely found in fetus with chromosomal aberrations and malformations. On the other hand, the genetic diagnosis of chromosomal malformation, especially trisomy, does not automatically implicate coronal clefts. SO-042 Molecular-genetic classification of glomerulocystic kidney disease J .K . Lennerz1 , H . Liapis2 1 2 University Ulm, Institute of Pathology, Ulm, Washington University, Department of Pathology and Immunology, St . Louis, United States Aims. Glomerular cysts (GCs) are defined as Bowman space dilatation >2–3× normal that occupy >5% of glomeruli. GCs occur in pediatric and adult kidneys. GCs are associated with a plethora of genetic- and nongenetic diseases and present significant diagnostic challenges. We aim to develop a molecular-genetic classification scheme to facilitate diagnosis. Methods. We reviewed our biopsy and nephrectomy material and the medical literature of >100 years (20+230 cases). Additionally, we performed in silico experiments mapping gene-protein networks (Ingenuity- Systems; MetaCoreV4.5). Results. We identified 5 categories: Type I represents GCK in polycystic kidney disease (PKD). Type II represents molecularly-recognized (UMOD/TCF2) and inherited subtypes of GCK (other than PKD). Type III represents syndromic-GCK, associated with malformations/ syndromes. Type IV includes obstructive-GCK (±dysplasia). Type V encompasses sporadic-GCK, including ischemic- and drug-induced types, which lack an inheritance pattern, syndromic features or obstruction/ dysplasia. In this scheme, types I/II can be regarded primary-GCK whereas III–V represent secondary-GCK and emerge (not necessarily from constitutional mutations but) from a loss-of-function of ‘maintenance kidney genes’ involved in injury repair. Conclusions. The clinical relevance of the various associations forms the basis for this molecular-genetic classification scheme that provides a framework for a structured differential diagnosis, suggests screening for probable mutations, and opens new avenues in understanding common kidney injuries. SO-043 RSV- and hMPV-infections in BALB/c mice M . Neumann1 , J . Lüsebrink2 , V . Ditt2 , O . Schildgen2 , A .M . Müller3 1 2 University Bonn Medical Center, Institute of Pathology, Bonn, University Bonn Medical Center, Institute of Virology, Bonn, 3University Bonn, Department of Pediatric Pathology, Bonn Aims. hRSV (human respiratory syncytial virus) and hMPV (human metapneumovirus) cause respiratory infections, leading to death in approximately 200,000 toddlers and old patients each year. Numerous aspects of the pathomechanisms and resulting pathomorphologic changes of infection are sparsely studied. Murine models differ concerning methodical parameters as well as inoculation methods resulting in a limited comparability of published studies. By using a mild inoculati- Der Pathologe · Supplement 1 · 2012 | 73
Abstracts on method avoiding cough reflex, we studied, whether an infectiously sufficient viral load can be achieved, if it causes significant pulmonary pathomorphological findings and if those findings differ for each virus and can be correlated by age. Methods. 43 mice (group I: 4 weeks of age; group II: 16 months of age) were either mock infected, inoculated with hRSV, hMPV or half the quantity of both viruses. Five days after inoculation the lungs were analysed by RTq-PCR for containing viral loads and by light microscopy and immunohistochemistry concerning pathomorphological findings. Results. Only lungs of infected mice showed a significantly raised viral load. In young hMPV-infected mice pathomorphological findings (broadened septae, focal poor ventilation) were far more prominent than in older animals. RSV-infection and co-infection caused increased severity of pathomorphology in older animals, while only displaying focal poor ventilation in young mice. By immunohistochemistry, a more proximal hRSV-infestation of the bronchi was found for co-infections than for solitary hRSV-infections. Old infected animals displayed virus proteins within macrophages and an enhanced BALT-activation. Conclusions. The raised viral loads affirm the effectivity of the inoculation method under inhalative short time anaesthesia, suppressing cough reflex without putting a strain on the animals concerning side-effects of anesthesia, e.g. vomitus. In all, pathomorphological changes were mild. Nevertheless, viral- and age-specific differences were found which might be related to age-dependent immune responses. An explanation for the more proximal bronchial distribution of hRSV during co-infection could be a result of competing receptors for attachment (as they are in large parts identical with hMPV) or a mutual inhibition during the intracellular replication process. SO-044 Genetic analysis of relapsed childhood germ cell tumors by CGH L . Wulf1 , C . Vokuhl1 , D . Schneider2 , G . Calaminus3 , I . Leuschner1 1 2 University of Kiel, Department of Pediatric Pathology, Kiel, Municipal Clinics Dortmund, Department of Pediatrics and Adolescent Medicin, 3Univer sity Hospital Münster, Department of Pediatric Oncology and Hematology Aims. Germ cell tumours are rare heterogeneous malignancies in childhood. Pure teratomas in childhood normally don’t show genetic changes in terms of aberrations and they are associated with a relapse-free prognosis. Higher grade of immaturity in teratomas increases probability of york sac tumour presence which concurrently decreases prognosis for relapse-free survival, especially if the tumour can not be completely excised. It is meaningful whether the rare cases of relapsing teratomas are genetic changes that are likely to predict recurrence of these tumours. This assumption disposed us to use chromosomal genomic hybridisation for primary tumours with relapse and comparing them to teratomas without relapse. Methods. Formalin-fixed, paraffin-embedded tissue blocks were retrieved from the files of the German Pediatric Tumor Registry. Sufficient DNA from 9 patients included in the Malignant Germ Cell Study Group (MAKEI) could be extracted, among them 9 primary tumors and 8 relapses. Tumor DNA was labeled with spectrum-green dUTPs, normal reference DNA with spectrum-red dUTPs. After co-hybridisation on normal male human metaphase spreads, CGH was analysed using ISIS CGH software (Metasystems). Results. All of the primaries were teratomas, beneath the relapses there were 4 teratomas and 4 tumors with at least a microfocus of YST. All but two of the primary teratomas had chromosomal aberrations detectable by CGH. The average number of chromosome arm aberrations per tumor was 1.9 (range: 0–5). Copy number changes were gain of chromosome 17, 7, 1q, 3 and 12p and loss of chromosome 13q, 5q and 5p. When comparing the two groups (primary tumor and relapse) most of the chromosomal imbalances detected in the primary tumor could also be found in the relapse. Furthermore some of the tumor relapses had additional changes (e.g. amplification of chromosome 8q). 74 | Der Pathologe · Supplement 1 · 2012 Conclusions. Pediatric germ cell tumors are a heterogeneous group with generally good relapse-free prognosis. Regardless most of the children are cured, some tumors relapse. In this study we wanted to search for differences between primary and relapsed tumors to find possible markers which could predict tumor relapse. In contrast to most teratomas which generally show a normal karyotype, the teratomas with relapse in our study showed chromosomal aberrations in 78% (7/9) of cases. Taken together the detection of chromosomal aberrations in teratoms could be a risk factor for tumor relapse. This assumption has to be evaluated on a bigger cohort of patients. SO-045 Genetic and immunhistochemical analysis of embryonal rhabdomyosarcoma with good and poor prognosis T . Heilmann1 , C . Vokuhl1 , T . Dantonello2 , E . Koscielniak2 , I . Leuschner1 1 2 University of Kiel, Department of Pediatric Pathology, Kiel, Olgaspital, Klinikum Stuttgart, Pediatric 5 Aims. Embryonal rhabdomyosarcoma (ERMS) is the most common soft tissue sarcoma in children, typically affecting children younger than 5 years of age. Contrary to alveolar rhabdomyosarcoma, ERMS don’t show specific translocations or specific genetic changes. Prognosis depends on the tumor size, localization and the age of the patient. Even if the overall survival with approximately 70% is generally good, there are some cases of ERMS with unfavourable prognosis. In our study we used comparative genomic hybridization (CGH) and immunohistochemistry (IHC) to analyse the tumours with good prognosis comparing to tumors with unfavourable prognosis. Methods. Formalin-fixed, paraffin-embedded tissue blocks were retrieved from the files of the German Pediatric Tumor Registry. Sufficient DNA from 28 patients for the CGH included in the Cooperative Weichteilsarkom (Soft Tissue Sarcoma) Study Group (CWS) could be extracted. For the CGH tumour DNA was labelled with spectrum-green dUTPs, normal reference DNA with spectrum-red dUTPs. After co-hybridization on normal male human metaphase spreads, CGH was analysed using ISIS CGH software (Metasystems). Furthermore we analysed the expression of the cell-cycle-proteins p16ink4, pRb and cyclin D1 as well as p53 in 40 cases. Results. The most common chromosome arm copy number changes were loss of chromosome 4q (39%), 6q (32%) and 5q (29%). Frequent gains were on chromosome 20q (54%), 22q (50%), 8p (46%), 8q (43%) and 11q (39%). When comparing the two groups we found gain on chromosome 6p (2/14), 14q (4/14) and 18p (3/14) and loss on chromosome 3p (3/14) only in cases with unfavourable prognosis. Only in the group of good outcome we found gains on chromosome 1q (2/14), 2q (2/14) and 11p (2/14). The results from the IHC showed abnormal expression of p53 5/40, Cyclin D1 10/40, pRb 6/40 and p16 24/40. Comparing the two groups the 5 cases with abnormal p53 expression were only in the group with poor prognosis. Conclusions. Although embryonal rhabdomyosarcoma generally has a good prognosis there are cases with less favourable prognosis. In this study we were able to confirm the frequent genetic changes in embryonal rhabdomyosarcoma. Furthermore we found some genetic changes (3p, 6p, 14q and 18p) and abnormal expression of p53 only in the tumour group with less favourable prognosis. To find better tools for risk stratification in embryonal rhabdomyosarcomas, future studies should be concentrated on possible genes within the chromosomal regions we have found in our study.
Page 2 and 3:
Inhalt Der Pathologe · Supplement
Page 4 and 5:
Inhalt Der Pathologe · Supplement
Page 6 and 7:
Editorial Liebe Kolleginnen und Kol
Page 8 and 9:
Kolorektales Karzinom 2 VO-005 Tran
Page 10 and 11:
Keynote Lecture VO-014 Genetic dete
Page 12 and 13:
(AMACR, FASN, GOLM1, GSP-pi, ERG) t
Page 14 and 15:
to assess the correct rate of R1 re
Page 16 and 17:
DNA damage, and cytotoxic drugs. Au
Page 18 and 19:
HCV-positive formalin-fixed and par
Page 20 and 21:
well as MET activation were examine
Page 22 and 23:
or BRAF mutation, c-MYC and SIRT1 e
Page 24 and 25: AG Pneumopathologie III DO-032 Remo
Page 26 and 27: immature granulopoiesis showed a st
Page 28 and 29: ned, if well-defined mantle zones,
Page 30 and 31: phomas). Most prominent gains or am
Page 32 and 33: DO-062 Tumor-associated macrophages
Page 34 and 35: DO-080 DOG1: an immunohistochemical
Page 36 and 37: AG Oralpathologie DO-087 Detection
Page 38 and 39: DO-094 Do activated fibroblasts inf
Page 40 and 41: DO-101 Histopathological analysis o
Page 42 and 43: DO-108 Identification of potential
Page 44 and 45: Conclusions. In conclusion, 454 par
Page 46 and 47: subgroup of patients with B-Raf mut
Page 48 and 49: DO-002b Impact of terminologies in
Page 50 and 51: Methods. We performed MCPyV-FISH of
Page 52 and 53: FR-013 HPV-genotype distribution in
Page 54 and 55: Methods. Three different techniques
Page 56 and 57: (i.e. investment in equipment and e
Page 58 and 59: FR-032 COLD-PCR: a powerful tool in
Page 60 and 61: dissection (MBLND) technique to imp
Page 62 and 63: SO-005 Prevalence of mutations in s
Page 64 and 65: SO-011 Methylation profiling and in
Page 66 and 67: more effective than SAHA alone and
Page 68 and 69: SO-022 Specialized pathology review
Page 70 and 71: SO-027 Ki-67 in mitotic score group
Page 72 and 73: nificantly associated with advanced
Page 76 and 77: AG Paidopathologie II SO-046 Overex
Page 78 and 79: Results. Histomorphology of the ova
Page 80 and 81: p42 and p27 have not yet been inves
Page 82 and 83: SO-068 Recent advances in understan
Page 84 and 85: SO-075 A novel, dual role of CCN3 i
Page 86 and 87: Pancreatic Adenocarcinoma SG-137 Se
Page 88 and 89: sease and 30 colon cancer serum sam
Page 90 and 91: Conclusions. Although CRC is charac
Page 92 and 93: differentiated and TNM stage III or
Page 94 and 95: pressed moderate levels of the prot
Page 96 and 97: FR-P-037 MALDI imaging reveals COX7
Page 98 and 99: in the context of therapy response
Page 100 and 101: on primary cells of wild-type and c
Page 102 and 103: chemotherapy was recommended and co
Page 104 and 105: aims are twofold: 1) to verify the
Page 106 and 107: Results. Her2/neu status in TMAs an
Page 108 and 109: prognostic impact was found in rect
Page 110 and 111: provided information on survival ti
Page 112 and 113: Methods. Biopsy specimens from 430
Page 114 and 115: the OS rate was 53% for patients wi
Page 116 and 117: FR-P-098 Immunohistological stainin
Page 118 and 119: FR-P-104 Histopathological evaluati
Page 120 and 121: within the earliest morphologic det
Page 122 and 123: Conclusions. In primary imaging a g
Page 124 and 125:
fibrotic neointma development as we
Page 126 and 127:
FR-P-129 Alpha-1-antitrypsin-PiZ-an
Page 128 and 129:
FR-P-136 The expression of central
Page 130 and 131:
cosa and in the periarterial tissue
Page 132 and 133:
FR-P-149 Combination of Castleman d
Page 134 and 135:
or without different concentrations
Page 136 and 137:
Results. In 18 cases (79%) the caus
Page 138 and 139:
FR-P-168 Autopsy findings in a 2-ye
Page 140 and 141:
FR-P-174 MPGN-like glomerulonephrit
Page 142 and 143:
Poster: Gynäkopathologie und Mamma
Page 144 and 145:
SA-P-011 Genetic aberrations of pre
Page 146 and 147:
Mechanismen, die eine Progression d
Page 148 and 149:
internet server. A network of inter
Page 150 and 151:
Methods. HE-gefärbte Schnittpräpa
Page 152 and 153:
Conclusions. The newly released 450
Page 154 and 155:
and desmoplastic reaction are diffe
Page 156 and 157:
one patient revealed more than 9 mi
Page 158 and 159:
situation, the V600E mutation in th
Page 160 and 161:
SA-P-064 Evolution of molecular pat
Page 162 and 163:
nic markers such as myf4 and MyoD1
Page 164 and 165:
Conclusions. To our knowledge, this
Page 166 and 167:
SA-P-085 Expression of the eukaryot
Page 168 and 169:
Results. The papillary RCC type II
Page 170 and 171:
SA-P-098 Male infertility: assessme
Page 172 and 173:
SA-P-104 Process oriented scientifi
Page 174 and 175:
Conclusions. The IBDW offers a uniq
Page 176 and 177:
L Lasitschka F. DO-046 Lehmann A. F
show all

96. Jahrestagung der Deutschen Gesellschaft für Pathologie e. V ...

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?