Christian G. Schindler

Site-independent prognostic value of chromosome 9q loss in primary gastrointestinal stromal tumours

Although the significance of tumour site for estimating malignant potential in gastrointestinal stromal tumours (GISTs) has recently been recognized, site‐specific genetic patterns have not to date been defined. This study examined 52 c‐kit‐positive primary GISTs (with a mean follow‐up of 42.3 months in 51 cases) from three different locations (35 gastric, 12 small intestinal, and five colorectal) using comparative genomic hybridization (CGH). In general, tumour site correlated with key prognostic factors, including tumour size, mitotic rate, proliferative activity, and probable malignant potential. Furthermore, several DNA copy number changes showed a site‐dependent pattern. These included losses at 14q (gastric 83%, intestinal 35%; p = 0.001), losses at 22q (gastric 46%, intestinal 82%; p = 0.02), losses at 1p (gastric 23%, intestinal 88%; p = 1 × 10−5), losses at 15q (gastric 14%, intestinal 59%; p = 0.002), losses at 9q (gastric 14%, intestinal 53%; p = 0.006), and gains at 5p (gastric 11%, intestinal 53%; p = 0.002). These data demonstrate strong site‐dependent genetic heterogeneity in GISTs that may form a basis for subclassification. Prognostic evaluation of DNA copy number changes identified losses at 9q as a site‐independent prognostic marker associated with shorter disease‐free survival (p = 0.03) and overall survival (p = 0.002). Furthermore, 9q loss also appeared to carry prognostic value in predicting overall survival for patients with advanced or progressive GISTs (p = 0.003). Copyright

Bright basal ganglia in T1-weighted magnetic resonance images are frequent in patients with portal vein thrombosis without liver cirrhosis and not suggestive of hepatic encephalopathy.

BACKGROUND/AIMS Deposition of paramagnetic substances in basal ganglia, resulting in increased signals in T1-weighted magnetic resonance images (bright basal ganglia), is frequently seen in liver cirrhosis. The present study describes the prevalence of bright basal ganglia and its clinical significance in patients with long-standing portal vein thrombosis in the absence of liver cirrhosis. METHODS Six patients with angiographically proven complete portal vein thrombosis and cavernomatous transformation without signs of acute or chronic liver disease were studied by magnetic resonance imaging of the brain, neuropsychiatric evaluation, psychometric tests, electroencephalography, and determination of arterial ammonia levels and of serum manganese concentrations from peripheral venous blood. RESULTS Five out of six patients demonstrated increased signal intensity in the basal ganglia. Overt portal-systemic encephalopathy was not noted prior to or at the time of evaluation. Normal EEG results were recorded in all patients. Only one of the six patients had pathological results in at least two out of four psychometric tests. This latter patient had had a large right-sided brain infarction. Arterial ammonia concentrations were normal in four of the six patients; one patient with increased ammonia levels had concomitant renal insufficiency with azotemia. The other four patients had no relevant concomitant diseases. Serum manganese levels were non-significantly increased compared with a control group (p=0.06), but they were significantly correlated to basal ganglia signal intensity (R=0.88; p=0.02). CONCLUSIONS Our results demonstrate that bright basal ganglia primarily represent shunt-induced alterations. They are not directly associated with disturbed liver function nor with portal-systemic encephalopathy.

Increase of serum estradiol in cirrhotic men treated by transjugular intrahepatic portosystemic stent shunt

BACKGROUND/AIMS Liver cirrhosis is frequently associated with sexual dysfunction and hormonal abnormalities. To evaluate the effect of portosystemic shunting on sex steroid serum concentrations, a prospective study was performed in cirrhotic patients treated consecutively and electively by transjugular intrahepatic portosystemic stent shunt (TIPS). METHODS In 27 patients with liver cirrhosis we measured serum levels of testosterone (T), sexual hormone binding globulin (SHBG), luteinizing hormone, follicle-stimulating hormone, dehydroepiandrosterone sulfate, androstenedione (A), estradiol (E2), 17-OH-progesterone and the T/SHBG ratio before and 3 months after TIPS. RESULTS In men (n = 17) 3 months after TIPS, A and E2 significantly increased, with mean serum levels rising from 4.4 +/- 2.5 to 5.6 +/- 2.9 ng/ml (P = 0.04) and from 27 +/- 9 to 40 +/- 19 pg/ml (P = 0.003), respectively. In contrast to A the increase of E2 persisted at 9 and 15 months after TIPS. Erectile dysfunction increased from 30% before TIPS to 70% after TIPS. In women (n = 10) A and E2 levels did not change significantly after TIPS. CONCLUSIONS TIPS aggravated hormonal dysbalance of sex steroids in favor of estrogens (hyperestrogenism) in men.

Quality of life and outcome of ultrasound-guided laser interstitial thermo-therapy for non-resectable liver metastases of colorectal cancer

Objective Patients with non-resectable liver metastases of colorectal cancer have poor prognosis and are mainly treated by palliative chemotherapy. Laser interstitial thermo-therapy is an innovative minimal invasive procedure for local tumour destruction within solid organs. The aim of the study was to investigate quality of life and outcome of ultrasound-guided laser interstitial thermo-therapy (US-LITT) in patients with liver metastases of colorectal cancer. Methods In this prospective non-randomized study, 45 patients with liver metastases of colorectal cancer were palliatively treated by US-LITT. Patient survival was analysed by the Kaplan–Meier method and the quality of life by questionnaire C30 of the European Organisation for Research and Treatment of Cancer before, and 1 week, 1 month, and 6 months after initiation of US-LITT. Results Median survival after initiation of US-LITT was 8.5 ± 0.7 months with a range of 1.5–18 months. Body weight was constant 1 month after US-LITT. In the multivariate analyses, quality-of-life symptoms and functioning scales did not deteriorate in patients alive at 6 months after initiation of US-LITT. Univariate analyses outlined a significant increase of the pain subscale before and at 1 week after US-LITT. Conclusions This study first describes the quality of life in patients with liver metastases of colorectal cancer treated by US-LITT. Potential benefits of the minimal invasive procedure could be prolonged survival time by preserved quality of life, but this first impression needs to be verified in a comparative study.

22-jährige Frau mit Fieber, Nachtschweiß, Gewichtsverlust und Hepatomegalie

A 22 year old female patient presented with fever, night sweats, weight loss and hepatomegaly associated with elevated inflammatory parameters and liver enzymes. Computer tomography revealed a mass located between the inferior vena cava and the psoas muscle as well as enlarged celiac, retroperitoneal and retrocaval lymph nodes. Biopsies of the retrocaval mass led to the diagnosis of retroperitoneal fibrosis. Within a few days of treatment with corticosteroids clinical presentation improved and imaging studies detected complete regression of the retrocaval mass after 6 months.

22-jährige Frau mit Fieber, Nachtschweiß, Gewichtsverlust und Hepatomegalie@@@A 22 year old woman with fever, night sweats, weight loss and hepatomegaly

A 22 year old female patient presented with fever, night sweats, weight loss and hepatomegaly associated with elevated inflammatory parameters and liver enzymes. Computer tomography revealed a mass located between the inferior vena cava and the psoas muscle as well as enlarged celiac, retroperitoneal and retrocaval lymph nodes. Biopsies of the retrocaval mass led to the diagnosis of retroperitoneal fibrosis. Within a few days of treatment with corticosteroids clinical presentation improved and imaging studies detected complete regression of the retrocaval mass after 6 months.

[A 22 year old woman with fever, night sweats, weight loss and hepatomegaly].

A 22 year old female patient presented with fever, night sweats, weight loss and hepatomegaly associated with elevated inflammatory parameters and liver enzymes. Computer tomography revealed a mass located between the inferior vena cava and the psoas muscle as well as enlarged celiac, retroperitoneal and retrocaval lymph nodes. Biopsies of the retrocaval mass led to the diagnosis of retroperitoneal fibrosis. Within a few days of treatment with corticosteroids clinical presentation improved and imaging studies detected complete regression of the retrocaval mass after 6 months.