High-grade meningiomas make up a relatively minor proportion of meningiomas, which are one of the most common types of primary intracranial tumors in adults. Though rare, a considerable portion of highgrade meningiomas arise from malignant transformation of benign meningiomas. The 2021 World Health Organization (WHO) classification criteria introduced molecular markers in the diagnosis and grading of central nervous system (CNS) tumors and assigned certain genomic mutations to grade 3 meningiomas. We report a case of a 54-year-old male patient who underwent stepwise malignant transformation of meningioma from WHO grade 1 to grade 3 within 10 years, during the course of five surgeries followed by adjuvant stereotactic radiosurgery and radiotherapy. We performed next-generation sequencing (NGS) on the most recent grade 3 meningioma specimen and found that it carried a telomerase reverse transcriptase promoter (TERTp) mutation (c.-124C>T) in accordance with the 2021 WHO criteria for grade 3 meningiomas. We then retrospectively examined the previous grade 1 and 2 specimens and found them to have the same mutation. We reviewed the significance of molecular markers in the diagnosis of meningiomas, possible genetic alterations associated with their malignant transformation, and what measures could be taken to effectively manage meningiomas considering NGS findings.

High-grade meningiomas make up a relatively minor proportion of meningiomas, which are one of the most common types of primary intracranial tumors in adults. Though rare, a considerable portion of highgrade meningiomas arise from malignant transformation of benign meningiomas. The 2021 World Health Organization (WHO) classification criteria introduced molecular markers in the diagnosis and grading of central nervous system (CNS) tumors and assigned certain genomic mutations to grade 3 meningiomas. We report a case of a 54-year-old male patient who underwent stepwise malignant transformation of meningioma from WHO grade 1 to grade 3 within 10 years, during the course of five surgeries followed by adjuvant stereotactic radiosurgery and radiotherapy. We performed next-generation sequencing (NGS) on the most recent grade 3 meningioma specimen and found that it carried a telomerase reverse transcriptase promoter (TERTp) mutation (c.-124C>T) in accordance with the 2021 WHO criteria for grade 3 meningiomas. We then retrospectively examined the previous grade 1 and 2 specimens and found them to have the same mutation. We reviewed the significance of molecular markers in the diagnosis of meningiomas, possible genetic alterations associated with their malignant transformation, and what measures could be taken to effectively manage meningiomas considering NGS findings.

High-grade meningiomas make up a relatively minor proportion of meningiomas, which are one of the most common types of primary intracranial tumors in adults. Though rare, a considerable portion of highgrade meningiomas arise from malignant transformation of benign meningiomas. The 2021 World Health Organization (WHO) classification criteria introduced molecular markers in the diagnosis and grading of central nervous system (CNS) tumors and assigned certain genomic mutations to grade 3 meningiomas. We report a case of a 54-year-old male patient who underwent stepwise malignant transformation of meningioma from WHO grade 1 to grade 3 within 10 years, during the course of five surgeries followed by adjuvant stereotactic radiosurgery and radiotherapy. We performed next-generation sequencing (NGS) on the most recent grade 3 meningioma specimen and found that it carried a telomerase reverse transcriptase promoter (TERTp) mutation (c.-124C>T) in accordance with the 2021 WHO criteria for grade 3 meningiomas. We then retrospectively examined the previous grade 1 and 2 specimens and found them to have the same mutation. We reviewed the significance of molecular markers in the diagnosis of meningiomas, possible genetic alterations associated with their malignant transformation, and what measures could be taken to effectively manage meningiomas considering NGS findings.

High-grade meningiomas make up a relatively minor proportion of meningiomas, which are one of the most common types of primary intracranial tumors in adults. Though rare, a considerable portion of highgrade meningiomas arise from malignant transformation of benign meningiomas. The 2021 World Health Organization (WHO) classification criteria introduced molecular markers in the diagnosis and grading of central nervous system (CNS) tumors and assigned certain genomic mutations to grade 3 meningiomas. We report a case of a 54-year-old male patient who underwent stepwise malignant transformation of meningioma from WHO grade 1 to grade 3 within 10 years, during the course of five surgeries followed by adjuvant stereotactic radiosurgery and radiotherapy. We performed next-generation sequencing (NGS) on the most recent grade 3 meningioma specimen and found that it carried a telomerase reverse transcriptase promoter (TERTp) mutation (c.-124C>T) in accordance with the 2021 WHO criteria for grade 3 meningiomas. We then retrospectively examined the previous grade 1 and 2 specimens and found them to have the same mutation. We reviewed the significance of molecular markers in the diagnosis of meningiomas, possible genetic alterations associated with their malignant transformation, and what measures could be taken to effectively manage meningiomas considering NGS findings.

Here, we report a rare case of L3 chordoma progressed to an intradural extramedullary (IDEM) mass and distant metastasis to the fascia lata. A 64-year old female patient presented to a local university hospital due to back pain and received excisional biopsy for a L3 destructive bony lesion. Local radiation therapy was initially administered, assuming a malignancy of unknown origin, but she developed cerebrospinal fluid leakage during adjuvant radiation therapy, which was managed by wound revision and lumbar drainage. As the destructive lesion progressed, she visited our hospital for a second opinion 3 months after the biopsy. After review of outside pathology, we diagnosed the lesion to be a chordoma, and performed a L3 corpectomy with cage and plate fixation. One and a half years later, positron emission tomography and computed tomography (PET-CT) revealed a right tensor fascia lata hypermetabolic lesion. Excisional biopsy confirmed a distant metastasis of the chordoma. One year later, she complained of L2 radiating pain. PET-CT and CT myelogram revealed an IDEM lesion. Surgical excision confirmed the transdural invasion of the chordoma. To our knowledge, this is the first report of an iatrogenic IDEM invasion and distant metastasis to the tensor of the fascia lata by a L3 chordoma.

Morphea, a subclass of localized scleroderma, is a connective tissue disorder limited to the skin and subcutaneous tissue. We report herein a case of secondary cicatricial alopecia due to morphea, which showed very unusual site and clinical manifestations. A 24-year-old woman presented to the department of dermatology with a solitary skin-colored patch on the frontoparietal area through the eyebrow. The histopathologic findings showed hydrophic changes of the basal cells in the epidermis. In addition, there were broadened, compact, eosinophilic collagen fibers and perifollicular lymphocytic infiltration with loss of elastic fibers and adnexal structures in the entire dermis. On the basis of clinical and pathological findings, she was diagnosed with secondary cicatricial alopecia due to morphea on the frontoparietal area through the eyebrow.
Alopecia ; Collagen ; Connective Tissue ; Dermatology ; Dermis ; Elastic Tissue ; Eosinophils ; Epidermis ; Eyebrows ; Female ; Humans ; Scleroderma, Localized ; Skin ; Subcutaneous Tissue ; Young Adult

Somatic mutation is a major cause of cancer progression and varied responses of tumors against anticancer agents. Thus, we must obtain and characterize genome-wide mutational profiles in individual cancer subtypes. The Cancer Genome Atlas database includes large amounts of sequencing and omics data generated from diverse human cancer tissues. In the present study, we integrated and analyzed the exome sequencing data from ~3,000 tissue samples and summarized the major mutant genes in each of the diverse cancer subtypes and stages. Mutations were observed in most human genes (~23,000 genes) with low frequency from an analysis of 11 major cancer subtypes. The majority of tissue samples harbored 20-80 different mutant genes, on average. Lung cancer samples showed a greater number of mutations in diverse genes than other cancer subtypes. Only a few genes were mutated with over 5% frequency in tissue samples. Interestingly, mutation frequency was generally similar between non-metastatic and metastastic samples in most cancer subtypes. Among the 12 major mutations, the TP53, USH2A, TTN, and MUC16 genes were found to be frequent in most cancer types, while BRAF, FRG1B, PBRM1, and VHL showed lineage-specific mutation patterns. The present study provides a useful resource to understand the broad spectrum of mutation frequencies in various cancer types.
Antineoplastic Agents ; Exome ; Genome ; Humans* ; Lung Neoplasms ; Mutation Rate ; Neoplasm Metastasis

OBJECTIVES: The characteristics of depressive symptoms in the family members of home-dwelling patients with dementia have not been clearly reported. This study aimed to investigate the characteristics of depressive symptoms in middle-aged family members living with a patient with dementia. METHODS: This study used the data from the nationwide 2017 Korea Community Health Survey. Among the 228,381 survey participants, 77,276 participants in their 40s and 50s were finally selected for this study. The participants consisted of 760 family members of home-dwelling dementia patients and 76,516 general family members comprising a control group. RESULTS: The positive rate of Patient Health Questionnaire-9 (PHQ-9)-measured depressive symptoms was significantly higher in the family members of home-dwelling dementia patients (4.4%; control group: 1.9%). After adjusting for potential confounders, the prevalence of PHQ-measured depressive symptoms was 1.72 times (95% confidence interval [CI], 1.03 to 2.85) higher in the family members of home-dwelling dementia patients compared to the control group. The positive rate of depressive symptoms was 2.26 times higher (95% CI, 1.26 to 4.05) in the female middle-aged family members of home-dwelling dementia patients compared to the control group. In addition, those who reported having symptoms almost every day in the PHQ-9 questions had significantly higher positive rates on questions about loss of interest, depression, sleep disturbance, fatigue, poor appetite, and suicidal ideation, and not on questions regarding feelings of worthlessness and psychomotor agitation, compared to the control group. CONCLUSIONS Active interventions are needed to relieve depression in the family members of home-dwelling dementia patients.

OBJECTIVES: The characteristics of depressive symptoms in the family members of home-dwelling patients with dementia have not been clearly reported. This study aimed to investigate the characteristics of depressive symptoms in middle-aged family members living with a patient with dementia. METHODS: This study used the data from the nationwide 2017 Korea Community Health Survey. Among the 228,381 survey participants, 77,276 participants in their 40s and 50s were finally selected for this study. The participants consisted of 760 family members of home-dwelling dementia patients and 76,516 general family members comprising a control group. RESULTS: The positive rate of Patient Health Questionnaire-9 (PHQ-9)-measured depressive symptoms was significantly higher in the family members of home-dwelling dementia patients (4.4%; control group: 1.9%). After adjusting for potential confounders, the prevalence of PHQ-measured depressive symptoms was 1.72 times (95% confidence interval [CI], 1.03 to 2.85) higher in the family members of home-dwelling dementia patients compared to the control group. The positive rate of depressive symptoms was 2.26 times higher (95% CI, 1.26 to 4.05) in the female middle-aged family members of home-dwelling dementia patients compared to the control group. In addition, those who reported having symptoms almost every day in the PHQ-9 questions had significantly higher positive rates on questions about loss of interest, depression, sleep disturbance, fatigue, poor appetite, and suicidal ideation, and not on questions regarding feelings of worthlessness and psychomotor agitation, compared to the control group. CONCLUSIONS Active interventions are needed to relieve depression in the family members of home-dwelling dementia patients.

BACKGROUND/AIMS: Long-term use of aspirin can be a risk factor of peptic ulcer diseases. The aim of this study was to evaluate the efficacy of Albis (Daewoong Pharmaceutical Co., Ltd.) for the prevention of gastric mucosal injury caused by aspirin. METHODS: Aspirin users were enrolled and randomized into the Albis or placebo group. Screening and follow-up endoscopy were performed for modified Lanza scores (MLSs). Primary outcome was measured by the incidence rate of peptic ulcer, and secondary outcomes were measured by the incidence rate of gastritis, improvement in MLS and subjective symptoms. RESULTS: In total, 81 aspirin users were randomized, 43 in the Albis group and 38 in the placebo group. There was no incidence of peptic ulcer in both groups. The incidence of gastritis was significantly higher in the placebo group (44.4% vs. 10.0%, p=0.003); however, the scores of mucosal edema, hyperemia and hemorrhage were not statistically different between the two groups (p>0.05). The frequency of subjective symptoms were more improved in the Albis group than in the placebo group (p=0.023). CONCLUSIONS: The incidence of gastritis was lower in the group that received low-dose aspirin and Albis. The development of peptic ulcer due to long-term use of aspirin might be prevented with concomitant use of Albis.
Aspirin* ; Edema ; Endoscopy ; Follow-Up Studies ; Gastritis ; Hemorrhage ; Hyperemia ; Incidence ; Mass Screening ; Peptic Ulcer ; Prospective Studies* ; Risk Factors