scholarly journals Maffucci Syndrome with Intrahepatic Cholangiocarcinoma: A Case Report

2021 ◽  
pp. 1347-1352
Author(s):  
Ryoichiro Kobayashi ◽  
Akira Shimizu ◽  
Koji Kubota ◽  
Tsuyoshi Notake ◽  
Shinsuke Sugenoya ◽  
...  

Maffucci syndrome is characterized by multiple hemangiomas and enchondromas. Somatic mutations in <i>IDH1</i> and <i>IDH2</i> are associated with the development of Maffucci syndrome, and these patients develop various malignant nonskeletal tumors in addition to malignant skeletal tumors. We report a case of Maffucci syndrome with <i>IDH1</i> mutation complicated by intrahepatic cholangiocarcinoma. The patient was a 35-year-old woman who was diagnosed with Maffucci syndrome in childhood. She was referred to our department because of a large hepatic tumor. Serum carcinoembryonic antigen was 27.1 ng/mL upon laboratory examination. CT scanning showed a large low-density tumor (90 × 70 mm) in the right lobe of the liver, and MRI revealed a multilobulated and fibrous tumor, which was observed as high signal intensity on T2- and diffusion-weighted images and low signal intensity on T1-weighted images. Positron emission tomography-CT revealed peritoneal dissemination and cancer spread to the muscles of the back. Finally, she was diagnosed with intrahepatic cholangiocarcinoma with dissemination and metastases. We performed a tumor biopsy to determine a treatment plan for chemotherapy. Sanger sequencing of a tumor biopsy identified a mutation in <i>IDH1</i> at c.394C&#x3e;T (R132C), but the patient died of rapid cancer progression before the chemotherapy could be initiated. Although rare, malignant tumors can develop in patients with Maffucci syndrome; therefore, it is necessary to monitor these tumors through careful and periodic observation.

2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Takuya Yamamoto ◽  
Tomoyuki Abe ◽  
Akihiko Oshita ◽  
Shuji Yonehara ◽  
Yoshio Katamura ◽  
...  

Abstract Background Intrahepatic cholangiocarcinoma (ICC) is the second most common malignancy of primary liver cancer. Among the several pathological types of ICC, only five cases of the clear cell type have been reported, including the one presented below. Here we report a unique case of clear cell type ICC following laparoscopic hepatectomy. Case presentation A 67-year-old woman had a history of hepatitis B virus. Computed tomography revealed a ring-like enhanced mass 35 mm in diameter at segment 7 in the early phase. The enhancement was prolonged to the late phase through the portal phase, while the shape was irregular. Ethoxybenzy magnetic resonance imaging revealed that the tumor had a low signal intensity on T1-weighted imaging and a high signal intensity on T2-weighted imaging. Diffusion-weighted images identified that the tumor had remarkably high signal intensity. Tumor enhancement was not detected throughout the tumor in the hepatocyte phase. Upon ICC diagnosis, a laparoscopic S7 subsegmentectomy was performed. The patient’s postoperative course was uneventful. An immunohistochemical examination revealed that the cells tested positive for cytokeratin 7 (CK7), CK19, and CD56 and negative for CK20, CD10, α-fetoprotein, thyroid transcription factor-1. At 2 years after surgery, the patient remains alive without recurrence. Conclusions Here we presented a case of clear cell ICC that was treated by laparoscopic hepatectomy. Immunological analysis, especially by CD56 and several CK markers, is helpful for diagnosing this disease.


2022 ◽  
Author(s):  
Naoko Ogura ◽  
Mieko Inagaki ◽  
Ritsuko Yasuda ◽  
Shigeki Yoshida ◽  
Tetsuo Maeda

A fibroepithelial stromal polyp is a benign soft tissue tumour that can occur in the vagina, vulva and uterine cervix. Magnetic resonance imaging (MRI) findings have been reported in patients with vulvar fibroepithelial stromal polyps, not in those with vaginal polyps. We present MRI findings of vaginal fibroepithelial stromal polyp in a postmenopausal female. A 1 to 2 cm firm vaginal mass arising from the left side of the vaginal wall with hypointense signal changes on T1W MRI was identified. A well-defined vaginal mass (1 cm diameter) was detected with inhomogeneous signal intensity on T2W images. However, a major portion had high signal intensity on diffusion-weighted images. A benign vaginal lesion with oedematous changes or myxoid degeneration was suspected. Vaginal resection was performed, and fibroepithelial stromal polyp was pathologically diagnosed. MRI may be a useful non-invasive modality for preoperatively diagnosing vaginal fibroepithelial stromal polyps.


2007 ◽  
Vol 20 (5) ◽  
pp. 586-596 ◽  
Author(s):  
I. Tsitouridis ◽  
M. Michaelides ◽  
A. Bintoudi ◽  
V. Kyriakou

Paranasal sinus mucocele is an expanded, airless, mucus-filled sinus caused by obstruction of the sinus ostium. It is a benign slow growing epithelial lined lesion, bulging against adjacent anatomical structures, without infiltrating them. The purpose of our study is to describe the CT and MR findings in 19 patients (ten women, nine men, 18–72 years, mean age: 48.1) with surgically confirmed frontoethmoidal mucoceles between 1999–2005. CT scans displayed mucoceles as non enhancing soft tissue density lesions, generally isodense to the brain parenchyma, expanding the sinuses in most cases, eroding adjacent bones and extending intraorbitally or intracranially. Signal intensity in T2WI and T1WI MR images varied, but generally lesions had high signal intensity in T2WI and low to intermediate signal intensity in T1WI. Some of the lesions demonstrated regular linear peripheral enhancement after administration of contrast medium. The causes of mucoceles included mucosal thickening from chronic sinusitis, adhesions from previous operation in the nasal cavity, previous trauma, small nasal polyps and a small osteoma, while in six patients (31.5%) the cause of the mucocele remained unrecognized even after surgery. No underlying malignant tumor was found in any of the cases as the cause of obstruction. CT and MRI established the correct diagnosis in all patients. CT was more sensitive in determining bone erosions, while MRI had the advantage of multiplanar imaging and was much more sensitive for differentiating mucocele from a tumor on the basis of MR signal intensity characteristics. In conclusion, CT and MRI are the methods of choice for diagnosing mucoceles of the paranasal sinuses and are of major importance for the treatment plan. Each method seems to have its own advantages and should be used as complementary investigations of sinonasal pathology. Enhanced CT scan should only be performed in the absence or contraindication for enhanced MR imaging.


Hand Surgery ◽  
2010 ◽  
Vol 15 (01) ◽  
pp. 11-15 ◽  
Author(s):  
K. Iba ◽  
T. Wada ◽  
M. Tamakawa ◽  
M. Aoki ◽  
T. Yamashita

Diffusion-weighted images based on magnetic resonance reveal the microstructure of tissues by monitoring the random movement of water molecules. In this study, we investigated whether this new technique could visualize pathologic lesions on ulnar nerve in cubital tunnel. Six elbows in six healthy males without any symptoms and eleven elbows in ten patients with cubital tunnel syndrome underwent on diffusion-weighted MRI. No signal from the ulnar nerve was detected in normal subjects. Diffusion-weighted MRI revealed positive signals from the ulnar nerve in all of the eleven elbows with cubital tunnel syndrome. In contrast, conventional T2W-MRI revealed high signal intensity in eight elbows and low signal intensity in three elbows. Three elbows with low signal MRI showed normal nerve conduction velocity of the ulnar nerve. Diffusion-weighted MRI appears to be an attractive technique for diagnosis of cubital tunnel syndrome in its early stages which show normal electrophysiological and conventional MRI studies.


2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Kenji Fukushima ◽  
Makoto Shinzeki ◽  
Kentaro Tai ◽  
Masaki Omori ◽  
Natsuko Yamauchi ◽  
...  

Abstract Background Plexiform schwannoma is one of the least common variants of schwannoma, accounting for only 5% of all schwannoma cases. It generally occurs in the skin and subcutaneous tissues and is uncommon in deep soft tissue or viscera. We present an extremely rare case of plexiform schwannoma arising from the peripancreatic plexus. Case presentation A 29-year-old man presented with hyperglycemia detected during a medical checkup. He was diagnosed with type 1 diabetes based on the clinical findings and laboratory tests. During the diagnostic process for diabetes, a 2.5 cm mass was incidentally detected in the pancreas by abdominal ultrasound. Contrast-enhanced computed tomography revealed a mass that was gradually enhanced at the body and tail of the pancreas. Magnetic resonance imaging revealed low signal intensity of the mass on T1-weighted images and high signal intensity on T2-weighted and diffusion-weighted images. Magnetic resonance cholangiopancreatography showed no abnormal findings in the main pancreatic duct. Endoscopic ultrasonography (EUS) showed a lobulated, low-echoic mass with a clear boundary. EUS-guided fine needle biopsy was performed, and spindle-shaped cells that were diffusely immunopositive for S-100 and negative for c-kit and desmin were detected, resulting in a diagnosis of a neurogenic tumor arising from the pancreas or the peripancreatic nerve plexus. The patient underwent laparoscopic spleen-preserving distal pancreatectomy. Although the tumor was connected to the splenic plexus, the splenic artery could be divided along its adventitial plane. Macroscopic findings of the excised tumor consisted of multiple yellowish-white nodules, and its histopathological features were consistent with plexiform schwannoma. There was no pancreatic tissue on the dorsal surface of the tumor, which suggested that the tumor arose from the peripancreatic nerve plexus. Conclusions The findings documented herein can aid in the differential diagnosis of peripancreatic schwannoma and in planning appropriate treatment.


Author(s):  
Christine U. Lee ◽  
James F. Glockner

62-year-old man with a history of prostate carcinoma (Gleason score 3+3) on ultrasound-guided biopsy Axial T2-weighted FRFSE images (Figure 12.19.1) obtained with an endorectal coil demonstrate a hypointense lesion in the left anterior peripheral zone with probable involvement of the central gland. The lesion shows high signal intensity on axial diffusion-weighted images (b=1,000 s/mm...


2013 ◽  
Vol 98 (4) ◽  
pp. 324-329 ◽  
Author(s):  
Yoshihiro Shirai ◽  
Hiroaki Shiba ◽  
Yuki Fujiwara ◽  
Ken Eto ◽  
Takeyuki Misawa ◽  
...  

Abstract Inflammatory pseudotumor (IPT) of the liver is rare, and differential diagnosis from malignant tumors is difficult. We herein report a case of IPT of the liver with marked elevation of carbohydrate antigen 19-9 (CA19-9). A 72-year-old woman, who underwent low anterior resection for rectal cancer, had low-grade fever and epigastric pain. The patient has well-controlled idiopathic thrombocytopenic purpura (ITP) with steroid maintenance treatment. Abnormal laboratory findings included serum carcinoembryonic antigen of 15.9 ng/mL and CA19-9 up to 14,632 U/mL. Computed tomography revealed a low-density lesion, and magnetic resonance imaging demonstrated a high intensity lesion on T1, T2-weighted, and diffusion-weighted images (55 × 22 mm in the Couinaud's segment 4 of the liver). However, 1 month after the appearance of the symptom, serum level of CA19-9 suddenly decreased to 37 U/mL. The tumor decreased spontaneously to 20 × 10 mm. Seven months later, the tumor had reduced to 18 × 11 mm. With a diagnosis of IPT, the patient remains well without regrowth of the tumor at 1 year follow-up after CA19-9 decrease to normal limits.


2020 ◽  
Vol 120 (10) ◽  
pp. 1463-1473
Author(s):  
Toshihiro Gi ◽  
Yasuyoshi Kuroiwa ◽  
Atsushi Yamashita ◽  
Yuko Mizutani ◽  
Taketoshi Asanuma ◽  
...  

AbstractThe effects of antithrombotic therapy on deep vein thrombosis (DVT) can be affected by thrombus age, which cannot be reliably determined by noninvasive imaging modalities. We investigated whether magnetic resonance (MR) diffusion-weighted imaging (DWI) can localize and determine the age of venous thrombus in patients with DVT, animal models, and human blood in vitro. Signal intensity (SI) on DWI and the apparent diffusion coefficient (ADC) of thrombi were assessed in eight patients with DVT using a 1.5-T MR imaging (MRI) system. We assessed the organizing processes as venous thrombus developed in the rabbit jugular vein using a 3.0-T MRI system over time. We also assessed MRI signals of human blood in vitro using the 1.5-T MRI system. Venous thrombi were detected by DWI as areas of high or mixed high and iso SI in all patients. The ADCs were lower in the proximal, than in the distal portion of the thrombi. The thrombi of rabbit jugular veins histologically organized in a time-dependent manner, with high SI on DWI at 4 hours, mixed high and iso SI at 1 and 2 weeks, and iso SI at 3 weeks. The ADC correlated negatively with erythrocyte content, and positively with smooth muscle cells, macrophages, hemosiderin, and collagen content. MRI signals of human blood in vitro showed that ADCs were affected by erythrocyte content, but not by blood clotting. MR-DWI can detect venous thrombus, and high SI on DWI accompanied by a low ADC might reflect erythrocyte-rich, acute-phase thrombi.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Piero Ruscitti ◽  
Antonio Barile ◽  
Onorina Berardicurti ◽  
Sonia Iafrate ◽  
Paola Di Benedetto ◽  
...  

AbstractAdult onset Still's disease (AOSD) is a rare systemic autoinflammatory disease, characterised by fever, arthritis, and skin rash, and joint involvement is one of its clinical manifestations. The aims of this work were to assess joint involvement, to describe main patterns of involvement, and associated clinical characteristics. In this work, we aimed at assessing the joint involvement in AOSD by using MRI, to describe main patterns and associated clinical characteristics. In addition, we aimed at assessing the global transcriptomic profile of synovial tissues in AOSD to elucidate possible pathogenic pathways involved. We also evaluated the global transcriptomic profile of synovial tissues to elucidate possible pathogenic pathways involved in the disease. Thus, AOSD patients, who underwent to MRI exam on joints, were assessed to describe patterns of joint involvement and associated clinical characteristics. Some synovial tissues were collected for RNA-sequencing purposes. The most common MRI finding was the presence of synovitis on 60.5%, mainly in peripheral affected joints, with low to intermediate signal intensity on T1-weighted images and intermediate to high signal intensity on T2-fat-saturated weighted and STIR images. Bone oedema and MRI-bone erosions were reported on 34.9% and 25.6% MRI exams, respectively. Patients with MRI-bone erosions showed a higher prevalence of splenomegaly, a more frequent chronic disease course, lower levels of erythrocyte sedimentation rate, and ferritin. In AOSD synovial tissues, a hyper-expression of interleukin (IL)-1, IL-6, and TNF pathways was shown together with ferritin genes. In conclusion, in AOSD patients, the most common MRI-finding was the presence of synovitis, characterised by intermediate to high signal intensity on T2-fat-saturated weighted and STIR images. MRI-bone erosions and bone oedema were also observed. In AOSD synovial tissues, IL-1, IL-6, and TNF pathways together with ferritin genes resulted to be hyper-expressed.


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