Currently, cancer multigene panel testing is available using next generation sequencer (NGS), which facilitates the carrying out of genomic medicine in clinical practice. This testing has two objectives, one is companion diagnostics and another is genome profiling. In Japan, two cancer gene panel tests were approved in June 2019 for genome profiling, OncoGuideTM NCC oncopanel, and FoundationOne^® CDx cancer genome profiles, and are being used in approximately 170 medical institutions at present in Japan. Before the report is returned to the treating physicians, actionable gene aberrations and possible treatments are discussed at the molecular tumor board meeting by a multidisciplinary team, a so-called “expert panel”.
Those two multigene panels use formalin-fixed paraffin-embedded (FFPE) tissue blocks to analyze. The quality of extracted DNA is associated with the success rate of analyzing DNA sequencing. To improve the success rate of the DNA sequencing, the concentration of formaldehyde, fixation time, and storage period of FFPE are very important. The strage period of FFPE samples is recommended to be within 3 years.
It was previously reported that around 10% of patients received molecular-targeted therapy according to their gene aberrations, and 70% of them could receive investigational drugs after enrollment into a clinical trial. Genomic medicine will improve the treatment efficacy in patients with malignancies and promote drug development in the future.

View full abstract

With advances in drug therapy, such as molecular targeted drugs and immune checkpoint inhibitors, molecular pathological diagnosis is required to determine the best chemotherapy regimen for patients with advanced lung cancer. There is an increasing number of molecular tests, such as EGFR mutation, ALK rearrangement, ROS1 rearrangement, BRAF V600E mutation, MET exon 14 skipping mutation, and PD-L1 expression tests. To simultaneously perform several molecular pathology tests, well-timed tissue samples of high quality and quantity are required. The newly developed endobronchial ultrasound (EBUS) bronchoscopy, including EBUS-TBNA, EBUS-GS, and EBUS-UT, increases the accuracy of lung cancer diagnosis. Transbronchial lung cryobiopsy (TBLC) is also a promising method that allows for the collection of large samples suitable for molecular pathological diagnosis; however, there is only limited evidence on its use in lung cancer and in Japan. Henceforth, to obtain a large amount of cancer tissue, it will be necessary to select the most suitable diagnostic method among methods such as bronchoscopy, TBLC, and computed tomography–guided percutaneous needle biopsy.

View full abstract

The clinical diagnosis of soft tissue tumors, especially malignant sarcomas, is highly dependent on histopathological diagnosis by biopsy. However, the rarity of sarcomas makes it difficult to accumulate knowledge and improve techniques, and inappropriate biopsies are frequently performed. Inappropriate biopsy techniques can make surgery difficult and worsen the patient's prognosis, and so biopsies should be performed by experienced operators in appropriate facilities. The important thing to note during biopsy is that the tumor capsule is disrupted at biopsy, and the access route is invariably “contaminated” with tumor. Therefore, the technique and route of biopsy must consider that the access route must be removed along with the tumor during wide resection after biopsy. In addition, the target should be carefully defined to avoid necrosis and hemorrhage and to biopsy the components with high viability. Accordingly, it is important to examine the surrounding anatomy and internal structure of the tumor in detail preoperatively using appropriate imaging modalities in order to perform an effective and safe biopsy.

View full abstract

Purpose: Transjugular liver biopsy (TJLB) is indicated for patients who have contraindications to the standard percutaneous liver biopsy (PLB). This study aimed to evaluate the safety and efficacy of TJLB.
Materials and Methods: This retrospective study was performed in 45 consecutive patients who underwent TJLB between April 2008 and August 2019. The reasons for applying TJLB were coagulation disorder (n=27), coagulation disorder and ascites (n=7), suspected amyloidosis (n=5), ascites (n=4), and other reasons (n=2). Liver biopsy was performed from the right or middle hepatic vein via the right or left internal jugular vein. After biopsy, all patients were performed abdominal US scan and/or abdominal CT scan to detect complications.
Results: The overall technical success rate was 96% (43/45 cases). Two unsuccessful cases were both after liver transplantation and had difficulty in inserting a metal cannula into the hepatic vein. The median number of punctures per a session was 6 (3-9). All biopsy specimens were adequate for histological diagnosis. The median number of complete portal tracts (CPTs) contained in the collected biopsy specimens was 3 (0-14). The number of specimen fragments of 5 mm or more was significantly larger in the groups with 6 or more CPTs than in the groups with 5 or fewer CPTs (P=0.044). Minor complication rate was 17.8% (8/45 cases). There were no major complications.
Conclusion: TJLB has no serious complications for patients with an established contraindication to PLB, and a pathological diagnosis can be made.

View full abstract

Hemosuccus pancreaticus（HP）is a rare, potentially life-threatening and obscure cause of upper gastrointestinal bleeding. A male in his 20s with severe motor and intellectual disabilities whose weight was 15 kg presented with hematemesis. His past medical history was significant for recurrent acute pancreatitis. Contrast-enhanced computed tomography (CT) showed a pseudoaneurysm (PA) in the pancreatic arcade and hyperdense material in the dilated main pancreatic duct. We suspected HP caused by a PA, and emergent abdominal angiography was performed. Because the feeding artery could not be identified, we planned to treat with observation. Two days later, follow-up CT showed an increase in the PA diameter. We therefore performed CT-guided direct puncture of the PA, during which the angiogram identified the dorsal pancreatic artery (DPA) arising from the origin of the splenic artery as the feeding artery. Percutaneous direct puncture embolization was then performed during a second angiography. Two days later, the HP was successfully treated with additional transcatheter arterial embolization using microcoils through the DPA. In cases in which the feeding artery of an aneurysm cannot be identified on angiography, the direct puncture approach can be a potentially efficacious alternative to identify the responsible blood vessels.

View full abstract

A man in his 80s underwent Y-graft replacement for a ruptured left common iliac artery aneurysm. Although he had a left internal iliac artery (IIA) aneurysm, ligation of the IIA root was performed and the aneurysm was incompletely treated because of an emergency condition. The left IIA aneurysm increased over time, and embolization was indicated 3 years postoperatively. Contrast-enhanced magnetic resonance angiography (MRA) showed development of a collateral vessel from the left profunda femoris artery to the IIA aneurysm via the obturator artery. The left femoral artery was punctured antegradely and a microcatheter was advanced into the left IIA aneurysm via the collateral vessel. Angiography from the aneurysmal sac revealed drainage by an enlarged superior gluteal artery (SGA). Cannulation of a microcatheter into the SGA was unsuccessful because of the steep angle. Therefore, the left SGA was directly punctured under fluoroscopic guidance using road-mapping of the SGA in the supine position. A microcatheter was advanced into the SGA for coil embolization of the SGA. Coil embolization of the inferior gluteal artery was followed by n-butyl-2-cyanoacrylate (NBCA) embolization of the aneurysmal sac from the microcatheter advanced from the left femoral artery. Postoperative MRA showed complete obliteration of the left IIA aneurysm.

View full abstract

Acquired hemophilia A is a relatively rare cause of secondary hemostasis disorder due to autoantibody to clotting factor VIII. It is less recognized especially by interventionists than congenital hemophilia A though a guideline was published in 2018. A woman in her 80s who developed a hematoma in the left psoas muscle, with no prior history of trauma or any other mucosal bleeding was transferred for our hospital for transcatheter arterial embolization (TAE). First TAE was performed with gelatin-sponge but hemostasis was not achieved, and a pseudoaneurysm developed on the right common femoral artery punctured in TAE. Secondary TAE was performed with n-butyl-2-cyanoacrylate (NBCA) after a week, and hemostasis was obtained. After we removed the 5Fr sheath introducer from the left common femoral artery, it was difficult to stop the bleeding and 80 minutes was necessary for hemostasis. Her activated partial thromboplastin time (APTT) was prolonged and the cross-mixing test indicated that inhibitors of clotting factor were present. Although TAE can be used for hemostasis even in some patients with acquired hemophilia A, the risk of bleeding was quite high when the sheath introducers were removed. Hence, TAE should be performed with adequate replenishment of clotting factor VII.

View full abstract

We treated a patient with a pseudoaneurysm detected 3 years after cryoablation for renal cell carcinoma (RCC). The pseudoaneurysm was located in the hilar region of the kidney, which was the puncture route of the cryo-needle but outside the area of the cryoablation. The puncture through the renal hilum was thought to be one of the factors that led to the development of the pseudoaneurysm. Since the angiographic findings revealed the pseudoaneurysm to be accompanied by an arteriovenous fistula, we speculate that the arteriovenous fistula was first induced by the renal hilar puncture and that the pseudoaneurysm was formed by prolonged arterial pressure stimulation. The development of arteriovenous fistulae and pseudoaneurysms should be considered in cases in which cryoablation for RCC is performed by a puncture through the renal hilum.

View full abstract