Maffucci Syndrome with Intrahepatic Cholangiocarcinoma: A Case Report.

Maffucci syndrome is characterized by multiple hemangiomas and enchondromas. Somatic mutations in IDH1 and IDH2 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 IDH1 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 IDH1 at c.394C>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.

Growing thymic granuloma adjacent to a thymic cyst mimicking malignancy: a case report.

An association between thymic cyst and thymic epithelial malignancy has been previously reported. However, several case studies have reported granulomas in the thymus with high metabolic activity, mimicking thymic malignancy. Additionally, an inflammatory response provoked by the rupture of cyst walls has been proposed as a pathogenesis of cholesterol granuloma in the thymus. However, the natural growth history of thymic granuloma remains unclear. We herein report the first case demonstrating the natural growth history of a thymic granuloma adjacent to a thymic cyst. Ten-year follow-up of the thymic cyst revealed a growing nodular lesion with high metabolic activity adjacent to the cyst. 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) showed a maximum standardized uptake value of 12.1 in a 2.5-cm solid mass. We performed total thymectomy given a high suspicion of a malignant thymic epithelial tumor. Histopathologic examination revealed a cholesterol granuloma in the thymus, which was directly connected to the thickened region of the cystic wall through a rupture of the wall. This case highlights the importance of considering thymic granuloma as a differential diagnosis for a growing anterior mediastinal nodule with high metabolic activity. Further, the clinical course and histopathologic findings of this case provide supporting evidence for the proposed pathogenesis of thymic granuloma.

[A case of sigmoid colon cancer with abdominal wall abscess].

A 63-year-old man was admitted for an abdominal mass. Computed tomography revealed an abscess (21 × 20 cm) in the abdominal wall and a tumor in the sigmoid colon. Thus, cancer of the sigmoid colon complicated by an abscess of the abdominal wall was diagnosed. The abscess was drained and transverse colostomy was performed with curative intent. After the intervention, chemotherapy (XELOX×3) was administered. Three months later, sigmoidectomy was performed and the stoma was closed. Macroscopic and microscopic examination of the resected specimen detected no remnants of cancer. In patients with advanced colon cancer and abdominal wall involvement, a two-stage operation and preoperative chemotherapy may be considered essential when curative resection is performed.

[Long-term survival of a patient with esophageal cancer with brain metastasis after multidisciplinary therapy - a case report].

A 70-year-old woman was admitted for difficulty in swallowing. Esophageal cancer (MtLt, type 3, T4N3M0, cStage IVa) was diagnosed in May 2010. The cancer was unresectable, and chemoradiotherapy (CRT) with TS-1 was initiated in June 2010, and a partial response (PR) was observed. After CRT, TS-1 was continued, but a brain metastasis was detected owing to the development of right hemiplegia in April 2012. Craniotomy and tumorectomy were performed, and the right hemiplegia improved. Pathological examination of the brain tumor indicated squamous cell carcinoma. Because of a recurrence of brain metastasis, a gamma knife procedure was performed in May 2012. Subsequently, several recurrences of brain metastases were diagnosed, and a total of 7 gamma knife procedures were performed up to January 2014. Although systemic chemotherapy (5-fluorouracil and cisplatin [FP], 5 courses)was administered, the patient showed progressive lung metastases in February 2013. The chemotherapy regimen was changed from FP to docetaxel (TXT), but the lung metastases continued to progress up to June 2013. The patient died in March 2014. Patients with esophageal cancer and metastases to the brain have poor prognosis, but the present patient survived approximately 2 years after first diagnosis of metastases to the brain after multidisciplinary therapy.

[A case of a patient with gastric cancer and liver metastasis -a long-term survival of 10 years].

We report a case of patient who is alive 10 years after total gastrectomy and partial liver resection for gastric cancer and liver metastasis, respectively. The patient is 69-year-old man who was examined in another hospital for nausea, tarry stool, and weight loss. Diagnosis by stomach fluoroscopy revealed gastric cancer and he was admitted to our hospital in September 2002. Computed tomography (CT) scan and ultrasonography (US) revealed liver metastasis in S7. Distant metastases were not detected. The patient underwent distal gastrectomy, transverse colon partial resection, and a hepatic partial resection in October 2002. Pathological findings showed SI, N1, and M1. Though adjuvant chemotherapy was given, a local recurrence was detected in the liver in February 2003. Hepatic arterial infusion (HAI) was started in April 2003. After 8 courses, HAI was discontinued because of hepatic artery obstruction. No additional distant metastases were found. Therefore, transdiaphragmatic radiofrequency ablation (RFA) was performed by thoracotomy. Currently, the patient is treatment free and remains alive after 10 years with no recurrence.

Factors involved in the regulation of plasma leptin levels in children and adolescents with anorexia nervosa.

OBJECTIVE: The effects of changes in body mass index (BMI) and other factors on plasma leptin levels in children and adolescents with anorexia nervosa (AN) were examined. METHODS: Plasma leptin levels and BMI was measured before and after initiation of refeeding therapy every 2 weeks for 8 weeks in 12 children and adolescents with AN. The plasma levels of insulin, cortisol, insulin-like growth factor-I (IGF-I), and tumor necrosis factor-alpha (TNF-alpha) were also measured in these subjects before and after 8 weeks of the refeeding therapy, and the results were compared with those from 12 age-matched healthy girls. RESULTS: The plasma leptin and IGF-I levels, as well as the BMI, in the AN patients before refeeding therapy were significantly lower than both of these indices in the AN patients 8 weeks after initiation of the therapy and in the controls. The plasma leptin levels and BMI in the AN patients 8 weeks after initiation of the therapy were still significantly lower than those in the controls. Significant correlations between the plasma leptin levels and BMI were detected in the AN patients both before and 8 weeks after initiation of the refeeding therapy, as well as in the controls. The BMI showed a significant increase beginning at 2 weeks after initiation of the therapy compared with that before refeeding, but the plasma leptin levels did not significantly increase until 4 weeks after the initiation of therapy. CONCLUSION: The results suggest that plasma leptin levels reflect changes in body fat content in children and adolescents with AN, although there is a delay in the recovery of plasma leptin levels compared with those of BMI in the early period of refeeding therapy, which is probably regulated by other factors.

Suppression of atopic-like dermatitis by treatment with antibody to lymphocyte function-associated antigen-1 in NC/Nga mouse.

The effect of a blocking-antibody specific for lymphocyte function-associated antigen-1 (LFA-1) was studied in an atopic-like dermatitis model, which was induced by the repeated application of picrylchloride in NC/Nga mice. Prophylactic treatment with anti-LFA-1 monoclonal antibody (mAb), not therapeutic treatment, significantly inhibited the skin severity score and the acanthosis with ulceration and infiltration of mast cells. Furthermore, the serum immunoglobulin E levels and cytokine production (interleukin-4 and interferon-gamma) by splenocytes stimulated with anti-CD3 antibody were also inhibited by treatment with anti-LFA-1 mAb. Our results suggest that LFA-1 plays an important role in the induction phase of the atopic-like dermatitis model.

Involvement of substance P in scratching behaviour in an atopic dermatitis model.

Substance P is speculated to be a key mediator of itching in atopic dermatitis, possibly acting via the tachykinin NK1 receptor. Thus, we examined the effect of a tachykinin NK1 antagonist, BIIF 1149 CL, on scratching behaviour in a picrylchloride-induced dermatitis model in NC/Nga mice. BIIF 1149 CL ((S)-N-[2-[3,5-bis(trifluoromethyl) phenyl]ethyl]-4-(cyclopropylmethyl)-N-methyl-alpha-phenyl-1-piperazineacetamide, monohydrochloride, monohydrate) at a dose of 100 mg/kg, p.o., significantly inhibited scratching behaviour immediately after administration, and the effect continued up to 6 h. The results suggest that clinical trials of tachykinin NK1 antagonists for the treatment of itching in atopic dermatitis patients would be warranted.

Role of substance P in an NC/Nga mouse model of atopic dermatitis-like disease.

BACKGROUND: Atopic dermatitis (AD) can be exacerbated or induced in genetically predisposed individuals by psychological stress, which causes the release of substance P (SP). Therefore, SP may play an etiological role in the mechanisms underlying AD. METHODS: Changes in the number of mast cells and SP-containing mast cells in lesional skin, and the serum concentrations of SP and IgE during the development of AD-like disease up to 8 weeks after the start of picryl chloride (PiCl) induction in NC/Nga mice were examined. RESULTS: Clinical signs and symptoms seen in PiCl-treated NC/Nga mice as a model of AD-like disease began with erythema and haemorrhage, followed by oedema, superficial erosion, deep excoriation, scaling and dryness of the skin, as well as retarded growth, and the changes were exacerbated with an increase in the number of PiCl applications. An increase in the number of mast cells and eosinophil infiltration was observed in the lesional skin. The increase in SP-positive mast cells in the dermis in this model was significant from 1 week after the start of induction treatment, compared with intact mice, and SP-positive nerve fibres were observed in the dermis. CONCLUSION: SP is a crucial mediator of both dermatitis and scratching behaviour in this model.

Resting energy expenditure and plasma leptin levels in adolescent girls with anorexia nervosa.

OBJECTIVE: Our aim was to examine the relationship between resting energy expenditure (REE) and circulating leptin levels during long-term refeeding in adolescent girls with anorexia nervosa (AN). METHOD: We measured REE, the plasma leptin level, the free T(3) level, body surface area (BSA), and dietary energy intake in AN adolescents before and 8 weeks after refeeding therapy. RESULTS: All parameters in AN subjects before the refeeding therapy were significantly lower than those in AN subjects after the therapy and in the controls. There were no significant differences in REE and BSA between posttherapy AN subjects and controls, but plasma leptin levels in the posttherapy AN subjects were still significantly lower than those in the controls. Significant correlations between REE and BSA were detected in the AN subjects both before and after the refeeding therapy, but REE did not correlate significantly with plasma leptin level in either of the AN groups. DISCUSSION: Our results suggest that the REE in AN subjects after long-term refeeding therapy is not associated with the changes in plasma leptin levels but with BSA.

Effects of parenteral lipid infusion on DNA damage in very low birth weight infants.

Very low birth weight (VLBW) infants are known to have poorly developed antioxidant system and may be at increased risk for radical damage. Previous studies have reported higher levels of lipid peroxide products in lipid emulsion used for parenteral nutrition. To examine the direct effects of parenteral lipid infusion on DNA damage in VLBW infants, we measured urinary 8-hydroxydeoxyguanosine (8-OHdG) levels in VLBW infants before, during, and after the parenteral lipid infusion. In both the lipid-infused and lipid-free groups, urinary 8-OHdG excretion levels at 14 days old were significantly (p < 0.01) lower than those at 2 and 7 days old. However, there were no significant differences in urinary 8-OHdG excretion levels between the lipid-infused and lipid-free groups at 2, 7, and 14 days old. Our results suggest that parenteral lipid infusion does not cause oxidative DNA damage, but irrespective of the infusion DNA damage during the first week of life is enhanced when compared with 14 days after birth in VLBW infants.