KIT and PDGFRAmutation status and their immunohistochemical (IHC) expression profile of gastrointestinal stromal tumor (GIST) patients treated with imatinib (IMT): Seven-year single-center experience

2009 ◽  
Vol 27 (15_suppl) ◽  
pp. 10558-10558
Author(s):  
Y. Koh ◽  
H. Kim ◽  
H. Lee ◽  
K. Lee ◽  
D. Oh ◽  
...  

10558 Background: Previous studies suggested the role of KIT and PDGFRAmutations on treatment outcome of GIST with IMT, but results are heterogeneous. IHC value of PDGFRA and PDGFRB is not established. Methods: We included patients (pts) treated with IMT as a first line therapy for metastastic or relapsed GIST between 2001 and 2008. Tumor DNA was extracted to investigate the mutation status of KITexon 9, exon 11, PDGFRA exon 12 and 18. IHC stain of c-KIT and PDGFRA/B was performed. We assessed the correlation between the treatment outcome, genetic status and IHC results. Results: A total of 85 pts (M:F=49:36, median age 58.4 years) received IMT 400 mg daily. Location of primary disease included stomach (33), small bowel (34), rectum (10), esophagus (1), and omentum/mesentery (7). Complete and partial responses were achieved in 6% and 62% of pts respectively, while 5% of pts had progressive disease. During median follow up of 28.1 months, estimated median PFS was 39.8 months. KIT exon 11 and 9 mutations were detected in 64% and 5% respectively. Exon 11 mutations included 44 deletions, 2 insertions, 5 substitutions and 3 deletion/insertions. PDGFRA exon 12 and 18 mutations were detected in 2% respectively. Positive rate of c-KIT, PDGFRA and PDGFRB using IHC was 96%, 21%, and 26% respectively. PDGFRA and PDGFRB were co-expressed (p=0.001). PDGFRA mutation did not correlate with PDGFRA/B expression. Clinical response was not different according to the mutation status or IHC expression. PFS of KIT exon 11, KITexon 9, PDGFRA mutants and pts without detectable mutations were not different (p=0.397). Pts with KIT exon 11 balanced mutations (substitution or deletion/insertion) showed longer PFS compared with pts with unbalanced mutations (deletion or insertion) (p=0.014) or pts without exon 11 mutations (p=0.033). Median PFS was shorter in pts lacking c-KIT (p=0.001) expression. PDGFRA/B expression did not influence PFS. Conclusions: Balanced mutation of KIT exon 11 predicted longer PFS, while lack of c-KIT protein expression predicted shorter PFS for GIST pts treated with first line IMT. PDGFRA and B were co-expressed without predictive value. No significant financial relationships to disclose.

2017 ◽  
Vol 27 (6) ◽  
pp. 1118-1122 ◽  
Author(s):  
Daniel Krell ◽  
Fran Said Battistino ◽  
Sarah Benafif ◽  
Lochani Ganegoda ◽  
Marcia Hall ◽  
...  

AimsThe Medical Research Council OVO5/EORTC 55955 trial showed that patients in remission after first-line therapy for ovarian cancer did not benefit from routine measurement of CA125 during follow-up. Since the presentation of these results, we have counseled patients about the options for follow-up and provided them with an information leaflet about the trial results and the symptoms that should prompt an early appointment and CA125 measurement. We present an audit of practice after the presentation of those results.MethodsThe medical records of 143 consecutive patients completing first-line therapy for epithelial ovarian, fallopian tube, or primary peritoneal cancer in our unit between July 2009 and December 2013 were analyzed.ResultsAn agreed plan of CA125 follow-up was recorded in 69 (79%) of 87 eligible patients on completion of first-line therapy. No routine CA125 follow-up was selected by 55 (80%) patients, and routine CA125 follow-up was selected by 14 (20%), of whom 3 wished not to be informed of the results. CA125 levels were checked in 28 (51%) patients in the no routine CA125 follow-up group, in 26 cases because of the development of symptoms. Relapse was confirmed in 22. Median follow-up was 360 days (range, 100–836). CA125 levels were checked in all 14 patients who had requested routine CA125 follow-up. Relapse has been confirmed in 2 patients. Median follow-up was 560 days (range, 500–620).ConclusionsIf patients are given sufficient information about the role of routine CA125 measurements during follow-up, the majority decide against CA125 monitoring and hence, avoid these blood tests.


2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii333-iii333
Author(s):  
Lei Wen ◽  
Zhaoming Zhou ◽  
Qingjun Hu ◽  
Juan Li ◽  
Mingyao Lai ◽  
...  

Abstract PURPOSE Intracranial non-germinomatous germ cell tumors (NGGCTs) have lower overall survival than germinoma because relatively higher recurrence usually occurs after first line therapy. METHODS Between January 2003 and December 2018, 111 consecutive patients diagnosed with NGGCTs reviewed. Those who progressed after first line therapy were included in this study. Data of first line treatment, salvage treatment, clinicopathological features and survival were collected and analyzed. RESULTS Totally, thirty patients (30/111, 27.0%) relapsed in our cohort, including 19 patients with accurate relapse information detail, and 11 patients who died of disease progression during follow up but without exact time and site of relapse. The median OS from diagnosis of the disease was 49.2 months (95% CI: 14.1 to 84.3 months) and 3-year OS was 54.3%. Patients who received both CSI and chemotherapy relapsed less than those who received reduced volume of radiotherapy or only CSI or only chemotherapy (22.5% vs. 45.5%, p=0.034). Of 19 patients who had detail information of recurrence time and site, the median time from diagnosis of disease to relapse was 9.5 months (2.2 to 72.1 months). Regarding to recurrence site, most patients relapsed in primary site (10/19, 52.6%) or distant intracranial (6/19, 31.6%). The recurrence site of other 3 patients were spinal (n=1), ventricular (n=1) and peritoneal (n=1). CONCLUSION Protracted follow-up is recommended because late recurrence is not uncommon. Primary tumor site and distant intracranial are the most prevalent relapsed location. Patients who relapsed could benefited from both CSI and salvage chemotherapy.


2021 ◽  
Vol 10 (2) ◽  
pp. 114-117
Author(s):  
Md Rezaul Karim Chowdhury ◽  
Md Haroon Ur Rashid ◽  
Md Mahbub Hossain ◽  
Shafayet Hossain Riyan

Evans syndrome is an uncommon haematological disorder characterised by autoimmune haemolytic anaemia (AIHA), immune thrombocytopenia (ITP) and/or immune neutropenia. It may occur in all ethnic groups, all ages and has no sex predilection. The direct antiglobulin test (DAT) is almost invariably positive. This condition generally runs a chronic course and is characterised by frequent exacerbations and remissions. Corticosteroids and/or intravenous immunoglobulin (IVIG) are the most commonly used first line therapy. Here we report a case of a female who presented with severe shortness of breath, palpitation and low grade fever and on examination she was found severely pale and mildly icteric. Her CBC and PBF showed pancytopenia. Indirect bilirubin and LDH were raised and direct Coomb’s test was positive. She was labeled as a case of Evans syndrome and responded to oral prednisolone. On subsequent follow-up her haematological profiles remained normal. J Enam Med Col 2020; 10(2): 114-117


2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Adel Bachour ◽  
Heidi Avellan-Hietanen ◽  
Tuula Palotie ◽  
Paula Virkkula

While continuous positive airway pressure (CPAP) is an effective first-line therapy for sleep apnea, CPAP fails in one third of patients mainly due to poor adherence to the CPAP device and masks. The role of the medical team is to guide the patient in choosing the best mask, thus insuring good CPAP therapy adherence. Once a suitable mask is found, the brand of the mask does not affect patient satisfaction or CPAP adherence. For the majority of patients, nasal masks are by far more suitable than oronasal masks. Orosanal masks are indicated in case of nasal stuffiness or when an air leak manifests through the mouth. Re-evaluation of the efficacy of CPAP therapy is recommended when switching to oronasal masks.


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