207 Poster Session 2 - Connective Tissue Oncology Society

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Scientific Posters – Poster Session 2not negligible, because 17 pts have stopped work becauseof pain, 7 have a part-time job because of pain and 2 ptshave changed work because of pain. This pain altered theeveryday activity in 14 cases and the leisure activity in 12cases. This pain led to irritability in 30 cases.Figure 2. 71 years female.Desmoid tumor at left iliacsmuscle was completely regressed after 54 monthstreatment with meloxicam.Conclusion: Using only VAS in a short-time frame, physicianstreating AF/DT pts underestimated the consequenceof pain. AF/DT is associated with paroxysmal episodes inmore than 60% of cases. This pain led to important sociofamilialand economical consequences. Further studies arenecessary to better describe and then treat this AF/DT-relatedpain. SOS Desmoid suggests that pain be measuredin further clinical trials focusing this particular tumour.Poster #132PAIN BURDEN IN PATIENTS WITH AGGRESSIVEFIBROMATOSIS/DESMOID TUMOUR (AF/DT):A SURVEY FROM THE FRENCH PATIENTADVOCACY GROUP: SOS “DESMOIDE”Philippe Rigaux 2 ; Nicolas Penel, MD; PhD 1 ; Danièle Lefebvre 11Medical Oncology, Centre Oscar Lambret, Lille,France; 2 SOS Desmoid, Paris, FranceObjective: Little is known about the frequency, the intensityand the consequences of pain in patients withAF/DT. The French patient advocacy group is frequentlycontacted by patients and caregivers about the treatmentof pain and suspects that this problem is underestimatedby physicians.Methods: The association had conducted a survey using astructured questionnaire, made with the help of some algologistsand oncologists. This questionnaire aims at assessingthe frequency, the intensity (using Visual Analogic Scale- VAS) and the consequence of pain. 233 questionnaireshave been sent. Classical descriptive statistics (frequency,95%-CI, median & extreme values) have been used.Results: We have received 102 questionnaires (44%) from18 men and 82 women (2 ND) with a median age of 41(17-85). AF/DT was diagnosed since 7 years (1-36). 73 ptsunderwent surgery (71.5% [62.8-80.3]). Pain was present in65 cases (63.7% [54.4-73.0]). The median intensity of painwas 1 (0-8) at the time of the questionnaire fulfilling. Themedian intensity of pain in the past week was 3 (0-10). Themaximal intensity of pain in the past week was 5 (0-10).Pain was described as permanent one in 25 cases (24.5%[16.1-32.8]). This pain was associated with sleep disturbancein 48 cases (47.1% [37.3-56.7]). Pain was associatedwith paroxysmal episodes in 65 cases (63.7% [54.4-73.0]). 38pts used antalgics on the everyday basis (34.3% [25.1-43.3]),including non-steroidal anti-inflammatory in 14 cases andmorphinic in 9 cases. 19 pts only were treated by an algologist.The consequences on the ability to go on working isPoster #133RADIATION INDUCED SARCOMAS OCCURRINGIN DESMOID-TYPE FIBROMATOSIS ARE NOTDERIVED FROM THE PRIMARY TUMOURAnne-Marie Cleton-Jansen 1 ; Pauline Wijers-Koster 1 ;Cheryl M. Coffin 2 ; Brian P. Rubin 3 ; Juidith V. Bovée 11Pathology, Leiden University Medical Center, Leiden,Netherlands; 2 Pathology, Microbiology and Immunology,Vanderbilt University Medical Centre, Nashville, TN, USA;3Anatomic Pathology and Molecular Genetics, Taussig CancerCenter and Lerner Research Institure, Cleveland, OH, USAObjective: Desmoid-type fibromatosis (ICD-O 8821/1) isa rare highly infiltrative and locally destructive neoplasmwhich does not metastasize, but may recur in 19-36% ofthe cases. They may occur in the context of familial adenomatouspolyposis (FAP) which is caused by a mutationin the adenomatous polyposis gene (APC). APC mutationsresult in activation of the Wnt/β-catenin pathway.An alternative mechanism for activation is a mutationin exon 3 of CTNNB1, the gene encoding β-catenin,which results in stabilization of the protein. CTNNB1mutations occur in 85% of the sporadic desmoid tumoursThese locally aggressive lesions are preferably treated bysurgery with a wide margin. If surgery is not possible radiationtherapy is often used. In rare cases this may resultin the development of a radiation induced sarcomawithinthe treatment area. It is unclear whether these sarcomasdevelop from the primary tumour or arise de novo innormal tissue.Methods: To assess this issue we determined whetherpostradiation sarcomas arising in desmoid-type fibromatosiscontain mutations in CTNNB1. We have collectedfour cases and determined the DNA sequence of exon 3in the desmoid tumour and the subsequent postradiationsarcoma.Results: In 2 out of 4 cases a T41A activating mutation in232
Scientific Posters – Poster Session 2CTNNB1 could only be detected in the desmoid tumor,whereas in the radation induced osteosarcomas developing6 and 11 years after treatment no CTNNB1 mutation wasdetected. A third case showed the S45F hotspot mutationin the original fibromatosis, whereas the postradiationundifferentiated sarcoma developing 6 years later waswildtype for CTNNB1 exon 3. The fourth case showed theT41A mutation in both in the desmoid fibromatosis as wellas in a fibrosarcoma arising within the desmoid tumor.Conclusion: In conclusion, postradiation sarcomas thatoccur in the treatment area of desmoid-type fibromatosispreferentially arise de novo and are not derived fromthe original desmoid tumour. Fibrosarcoma arising afterthis treatment may be derived from the original desmoidfibromatosis.Poster #134A NOVEL TP53 GERMLINE MUTATION IN ACHILD WITH SARCOMA AND POST-RADIATIONLESIONSTalia Donenberg 1 ; Deborah Barbouth 1 ; Andrew E. Rosenberg 2 ;Doured Daghistani 3 ; Jonathan C. Trent 41Dr. John T. Macdonald Foundation Department of HumanGenetics, University of Miami, Miller School of Medicine,Miami, FL, USA; 2 Pathology, University of Miami Hospital,Miami, FL, USA; 3 Pediatiric Oncology and Hematology,Baptist Hospital, Miami, FL, USA; 4 Medicine, University ofMiami, Miller School of Medicine, Miami, FL, USAObjective: Li Fraumeni syndrome results from germlinemutations in the TP53 tumor suppressor gene, importantin the DNA damage response pathway. Patients are wellknown to be highly sensitive to radiation exposure withhigh risk for second malignancies in radio-therapy treatedsites. We report a novel TP53 mutation in a child withrhabdomyosarcoma and two subsequent lesions in theradiated site without family history of cancer.Methods: Our patient is an 11 year old female with historyof mixed alveolar and embryonal rhabdomyosarcomain the right vastus lateralis at age 3. Treatment includedradical resection, chemotherapy and radiation therapy(41.5 Gy). At age 11 an atypical lipomatous tumor and anatypical vascular tumor were resected from the previouslyradiated field. Immunophenotype of the atypical lipomatoustumor was negative for MDM2, CDK4 and CD34 andpositive for p53, and 4% estimated proliferation rate usingKi-67. The atypical vascular proliferation was CD31 andCD34 positive and negative for c-myc. Germline testingwas performed on saliva for TP53 by DNA sequencingand deletion/duplication testing. Family history was unremarkablefor malignancy.Results: A novel mutation in TP53 was identified, p.C135F(c.404G>T), consisting of a G to T substitution at nucleotideposition 404. The cysteine is replaced by phenylanine, anamino acid with highly dissimilar properties. The aminoacid alignment shows complete conservation throughoutvertebrates. In addition, it is predicted to be deleterious byin silico analyses, SIFT (Sorting Intolerant from Tolerant)and Polyphen. While not previously reported in the germline,according to IARC database this mutation is reportedsomatically in 56 tumors, suggesting its association withmalignant potential.Conclusion: We report a novel germline TP53 mutationthat is associated with early onset rhabdomyosarcoma andthe occurrence of an atypical vascular neoplasm and anatypical lipomatous tumor in the irradiated field. Testingfor Li Fraumeni syndrome should be considered in pediatricpatients with second malignancy in a radiated field.Poster #135THE RESULTS OF SURVIVAL AND PROGNOSTICFACTORS IN THE PATIENTS OFCHONDROSARCOMA WITH LONG TERMFOLLOW UPSang Heon Song; Kim Han-Soo; Han Ilkyu; Choi Eun SeokSeoul National University Hospital, Seoul, Republic of KoreaObjective: There have been few long-term stud¬ies on theoutcome of chondrosarcoma and the findings regard¬ingprognostic factors are controversial. The aim of this studyis to evaluate the survival rate and prognostic factors ofchondrosarcoma of the extremities and axial bones.Methods: We performed a retrospective analy¬sis of 127patients with chondrosarcoma of the extremities and axialbones and who were treated surgically from 1982 to 2007and had a minimum follow-up of 5 years after diagnosis.Several prognostic factors were evaluated; anatomicallocation, tumor size, histologic grade and surgical resectionmargin.Results: The overall survival was 75%. The local recurrenceswere in 28 cases (29.3%), and the distant metastases in21 cases (16.5%). Tumor grade and the anatomical location,size of tumor and surgical resection margin were foundto be statisti¬cally significant independent predictors ofdisease-related deaths in multivariate analysis. Long-termsurvival after secondary metastatic disease was only observedwhen metastases were resected with wide margins.Patients with metastases who received further treatmentwith conventional chemotherapy, radiotherapy, and/orfurther surgery had significantly better survival comparedto those who received best supportive care.233
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207 Poster Session 2 - Connective Tissue Oncology Society

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