Hepatic osteodystrophy is frequent complication in patients with chronic liver disease, particularly with chronic cholestasis. We report a male infant with congenital hepatoblastoma, who had osteodystrophy complicated by multiple bone fractures despite adequate supplementation of fat-soluble vitamins including vitamin D. He was born by Caesarean section because of a 7 cm–sized abdominal mass detected by prenatal ultrasonography. The pathologic diagnosis was hepatoblastoma, PRETEXT staging III or IV. Whole body bone scan at the time of diagnosis showed no abnormal uptake. Oral vitamin D3 of 2,000 IU/day was administered with other fat-soluble vitamins. Serum direct bilirubin level gradually increased up to 28.9 mg/dL at postnatal 6 days and was above 5 mg/dL until 110 days of age. Bony changes consistent with rickets became apparent in left proximal humerus since 48 days of age, and multiple bone fractures developed thereafter. With resolving cholestasis by chemotherapy, his bony lesions improved gradually after add-on treatment of bisphosphonate and parenteral administration of vitamin D with calcium. High level of suspicion and prevention of osteodystrophy is needed in patients with hepatoblastoma, especially when cholestasis persists.
Bilirubin ; Calcium ; Cesarean Section ; Cholecalciferol ; Cholestasis ; Diagnosis ; Drug Therapy ; Female ; Fractures, Bone ; Hepatoblastoma ; Humans ; Humerus ; Infant ; Liver Diseases ; Male ; Pregnancy ; Rickets ; Ultrasonography, Prenatal ; Vitamin D ; Vitamins

Due to advances in the treatment and diagnosis of cancer, many women survive long after treatment, and therefore express concerns about the impact of estrogen deficiency on their quality of life. Cancer treatment can induce menopause through surgical removal of the ovaries, chemotherapy, or radiation. Women who undergo induced menopause usually experience more sudden and severe menopausal symptoms, including vasomotor symptoms, psychological symptoms, genitourinary symptoms, cardiovascular disease, and osteoporosis. Menopausal hormone therapy (MHT) is especially important in women younger than 40. In this review, we consider the role of MHT after the diagnosis of breast, gynecologic, colorectal, stomach, liver, lung, and hematologic cancers. MHT is advantageous in endometrial cancer type I, cervical squamous cell carcinoma, colorectal cancer, hepatocellular carcinoma, and hematologic malignancies. However, MHT is not recommended for use in breast cancer, endometrial stromal sarcoma, hormone receptor–positive gastric cancer, and lung cancer survivors because it is linked to an increased risk of cancer recurrence. Depending on the type of cancer, clinicians should recommend that cancer survivors receive appropriate MHT in order to reduce vasomotor symptoms and to benefit from its positive effects on the cardiovascular and skeletal systems.
Breast ; Breast Neoplasms ; Carcinoma, Hepatocellular ; Carcinoma, Squamous Cell ; Cardiovascular Diseases ; Colorectal Neoplasms ; Diagnosis ; Drug Therapy ; Endometrial Neoplasms ; Estrogens ; Female ; Hematologic Neoplasms ; Humans ; Liver ; Lung ; Lung Neoplasms ; Menopause ; Osteoporosis ; Ovary ; Quality of Life ; Recurrence ; Sarcoma, Endometrial Stromal ; Stomach ; Stomach Neoplasms ; Survivors

BACKGROUND/AIMS: Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy that typically presents in the form of skin manifestations with or without lymph node and bone marrow involvement. Given its rarity and recent recognition as a distinct pathological entity, no standard of treatment exists for this aggressive disease and its prognosis is particularly dismal. METHODS: We retrospectively analyzed clinical features and treatment outcomes of patients who were diagnosed with BPDCN between 2000 and 2014. RESULTS: Ten patients had a median age at diagnosis of 41 years (range, 18 to 79), and seven patients were male. Sites of disease involvement were the skin (n = 7), lymph node (n = 5), bone marrow (n = 2), liver (n = 2), spleen (n = 2), and soft tissue (n = 1). Intensified chemotherapy regimens such as hyperCVAD regimen (cyclophosphamide, vincristine, doxorubicin, dexamethasone, methotrexate, cytarabine), and VPDL (vincristine, methylprednisolone, daunorubicin, L-asparaginase) were used as a first-line treatment. Although all patients treated with intensified chemotherapy showed an objective response (five patients with complete response) with median progression-free survival of 11.2 months (range 6.2 to 19.4), complete remission was not sustained for more than 2 years in any case. The response was relatively long-lived compared with previously reported CHOP (doxorubicin, cyclophosphamide, vincristine, prednisone)-like regimens, but the above regimens do not result in long-term remission. CONCLUSIONS: All patients treated with hyperCVAD or VPDL showed an objective response, but the duration of response was relatively short. Thus, the development of more effective induction as well as consolidation treatment strategy should be warranted to improve this rare disease entity.
Bone Marrow ; Cyclophosphamide ; Daunorubicin ; Dendritic Cells* ; Dexamethasone ; Diagnosis ; Disease-Free Survival ; Doxorubicin ; Drug Therapy ; Hematologic Neoplasms ; Humans ; Korea* ; Liver ; Lymph Nodes ; Male ; Methotrexate ; Methylprednisolone ; Prognosis ; Rare Diseases ; Retrospective Studies ; Skin ; Skin Manifestations ; Spleen ; Vincristine

PURPOSE: Hepatocellular carcinoma (HCC) is a rarely occurring disease in the pediatric population. We report our center's experience of management of HCC in children and adolescents. METHODS: From 1996 to 2012, 16 patients aged 18 or younger were diagnosed with HCC at our center. The medical records of these 16 patients were retrospectively reviewed. RESULTS: There were 9 boys and 7 girls. Median age at diagnosis of HCC was 14.5 years. All patient had pathologically confirmed diagnosis of HCC. Three patients had distant metastasis at the time of HCC diagnosis. Eight patients were surgically managed, including 4 liver resections, 3 liver transplantations, and 1 intraoperative radiofrequency ablation. The remaining 8 patients received systemic chemotherapy. Overall, 6 patients are alive at median 63.6 months after diagnosis of HCC. All survivors were surgically managed patients. CONCLUSION: HCC is a rare disease occurring in childhood. Patients with systemic disease have poor outcome. Liver transplantation may be a good option for treatment of pediatric HCC.
Adolescent* ; Carcinoma, Hepatocellular* ; Catheter Ablation ; Child* ; Diagnosis ; Drug Therapy ; Female ; Humans ; Liver ; Liver Transplantation ; Medical Records ; Neoplasm Metastasis ; Pediatrics ; Rare Diseases ; Retrospective Studies ; Survivors

PURPOSE: The purpose of this study was to understand patient treatment patterns, outcomes, and healthcare resource use in cases of metastatic and/or locally recurrent, unresectable gastric cancer (MGC) in South Korea. MATERIALS AND METHODS: Thirty physicians reviewed charts of eligible patients to collect de-identified data. Patients must have received platinum/fluoropyrimidine first-line therapy followed by second-line therapy or best supportive care, had no other primary cancer, and not participated in a clinical trial following MGC diagnosis. Data were summarized using descriptive statistics. Kaplan-Meier analysis was used to describe survival. RESULTS: Of 198 patients, 73.7% were male, 78.3% were diagnosed with MGC after age 55 (mean, 61.3 years), and 47.0% were current or former smokers. The majority of tumorswere located in the antrum/pylorus (51.5%). Metastatic sites most often occurred in the peritoneum (53.5%), lymph nodes (47.5%), and liver (38.9%). At diagnosis, the mean Charlson comorbidity indexwas 0.4 (standard deviation, 0.6). The most common comorbidities were chronic gastritis (22.7%) and cardiovascular disease (18.7%). Most patients (80.3%) received second-line treatment. Single-agent fluoropyrimidine was reported for 22.0% of patients, while 19.5% were treated with irinotecan and a fluoropyrimidine or platinum agent. The most common physician-reported symptoms during second-line treatment were nausea/vomiting (44.7%) and pain (11.3%), with antiemetics (44.7%), analgesics (36.5%), and nutritional support (11.3%) most often used as supportive care. Two-thirds of inpatient hospitalizations were for chemotherapy infusion. Outpatient hospitalization (31.6%) and visits to the oncologist (58.8%) were common among second-line patients. CONCLUSION: Most patients received second-line treatment, although regimens varied. Understanding MGC patient characteristics and treatment patterns in South Korea will help address unmet needs.
Analgesics ; Antiemetics ; Cardiovascular Diseases ; Comorbidity ; Delivery of Health Care ; Diagnosis ; Drug Therapy ; Gastritis ; Hospitalization ; Humans ; Inpatients ; Kaplan-Meier Estimate ; Korea* ; Liver ; Lymph Nodes ; Male ; Nutritional Support ; Observational Study ; Outpatients ; Peritoneum ; Platinum ; Republic of Korea ; Stomach Neoplasms*

Some patients have ascites without having liver disease, so it is important to analyze the cause of these ascites. Tuberculous peritonitis is an infectious disease characterized by lymphocyte-dominant exudative ascites. In contrast, myxedema ascites is a very rare disease characterized by a high serum/ascites albumin gradient (SAAG) with hypothyroidism. We herein report a case involving a 48-year-old woman with both diseases simultaneously. She was hospitalized because of massive ascites, generalized edema, and a puffy face. Hypothyroidism was confirmed by thyroid function tests. Her ascitic fluid had a high SAAG; no other specific findings were identified by cytology, culture, or computed tomography. Three months after initiating drug therapy for the hypothyroidism, the patient's systemic edema improved but the ascites recurred. Accordingly, diagnostic laparoscopy was performed, and tuberculous peritonitis was confirmed. As seen in this case, when myxedema ascites is associated with tuberculous peritonitis, an accurate diagnosis may be challenging.
Ascites* ; Ascitic Fluid ; Communicable Diseases ; Diagnosis ; Drug Therapy ; Edema ; Female ; Humans ; Hypothyroidism ; Laparoscopy ; Liver Diseases ; Middle Aged ; Myxedema* ; Peritonitis, Tuberculous* ; Rare Diseases ; Thyroid Function Tests

Primary hepatic actinomycosis is one of the chronic abscess-forming infections of the liver. Accurate diagnosis is frequently delayed due to its indolent course and nonspecific clinical and radiological manifestations. We report a case of a 57-year-old man presenting with asymptomatic multiple hepatic masses on follow-up abdominal computed tomography performed 1 year after stomach cancer surgery. Although a percutaneous liver biopsy procedure was conducted twice in order to obtain confirmative pathology, only a nonspecific organizing abscess with plasma cell infiltration was revealed, without identification of any organism in the tissue cultures. Ultimately, actinomycosis was diagnosed following the detection of sulfur granules on open surgical biopsied tissue. This case suggests that primary hepatic actinomycosis should be considered as one of the possible causes for enigmatic inflammatory lesions of the liver.
Actinomycosis/*diagnosis/drug therapy/microbiology ; Anti-Bacterial Agents/therapeutic use ; Biopsy, Needle ; Humans ; Liver Abscess/complications ; Liver Diseases/*diagnosis/microbiology/pathology ; Male ; Middle Aged ; Tomography, X-Ray Computed

BACKGROUND: Desmoplastic small round cell tumor (DSRCT) is an aggressive malignancy with a poor prognosis. DSRCT is a rare disease, and therefore a standard treatment regimen has not been established. In this study, we reviewed the clinical characteristics and treatment outcomes of pediatric DSRCT patients.METHODS: We retrospectively reviewed the medical records of 5 DSRCT patients (2 boys, 3 girls) that were diagnosed and treated with DSRCT at Seoul National University Children's Hospital from January 1999 to January 2015.RESULTS: The median age at diagnosis was 11 years 5months (range 4 years 10 months-17 years 2 months). The most frequent symptoms were abdominal pain (60%). The primary sites were gastrointestinal tract, bladder, and omentum, and the involved sites were the liver, gastrointestinal tract, bladder and bone. Three patients had multiple metastases at diagnosis. Two patients underwent upfront surgical excision of primary tumor, and the remaining 3 patients received neo-adjuvant chemotherapy after the diagnosis was confirmed by using needle biopsy. Combination chemotherapy was administered to all patients in addition to radiotherapy (median dose 45 Gy, range 17.5-54 Gy). Four patients showed disease progression or relapse, resulting in a 20% overall survival rate. At the time of analysis, one patient is alive. She had localized disease at the time of diagnosis and were treated with upfront surgery, chemotherapy, and high-dose chemotherapy with autologous stem cell transplantation and radiotherapy.CONCLUSION: Patients with DSRCT have a poor prognosis, even after multimodal treatment. Further studies are needed to determine the prognostic factors of DSRCT.
Abdominal Pain ; Biopsy, Needle ; Combined Modality Therapy ; Desmoplastic Small Round Cell Tumor ; Diagnosis ; Disease Progression ; Drug Therapy ; Drug Therapy, Combination ; Gastrointestinal Tract ; Humans ; Korea ; Liver ; Medical Records ; Neoplasm Metastasis ; Omentum ; Pediatrics ; Prognosis ; Radiotherapy ; Rare Diseases ; Recurrence ; Retrospective Studies ; Seoul ; Stem Cell Transplantation ; Survival Rate ; Treatment Outcome ; Urinary Bladder

Biomarkers ; analysis ; Delayed Diagnosis ; Diagnosis, Differential ; Female ; Humans ; Infant, Newborn ; Liver Diseases ; diagnosis ; drug therapy ; etiology ; Liver Function Tests ; Nephrotic Syndrome ; diagnosis ; drug therapy ; etiology ; Penicillin G ; administration & dosage ; therapeutic use ; Skin Diseases ; diagnosis ; drug therapy ; etiology ; Syphilis, Congenital ; complications ; diagnosis ; drug therapy

Spontaneous bacterial peritonitis (SBP) is the most common infection in liver cirrhosis patients, and is not a result of surgery or intra abdominal infection. Argon plasma coagulation (APC) is an endoscopic procedure used with a high-frequency electrical current for control of bleeding from gastrointestinal vascular ectasias including angiodysplasia and gastric antral vascular ectasia. This procedure is known to be safe because it uses a noncontact method. Therefore, tissue injury is minimal and up to two to three millimeters. However, we experienced a case of SBP occurring immediately after performance of APC for control of severe bleeding from angiodysplasia in the colon in a patient with liver cirrhosis and hepatocellular carcinoma.
Aged ; Angiodysplasia/complications/*diagnosis ; Anti-Bacterial Agents/therapeutic use ; *Argon Plasma Coagulation ; Bacterial Infections/*diagnosis/drug therapy/microbiology ; Carcinoma, Hepatocellular/complications/diagnosis ; Colonic Diseases/complications/*diagnosis ; Colonoscopy ; Female ; Gastrointestinal Hemorrhage/therapy ; Gram-Negative Bacteria/isolation & purification ; Humans ; Liver Cirrhosis/complications/diagnosis ; Liver Neoplasms/complications/diagnosis ; Peritonitis/*diagnosis/drug therapy/microbiology