Discordance of the PAM50 Intrinsic Subtypes Compared with Immunohistochemistry-Based Surrogate in Breast Cancer Patients: Potential Implication of Genomic Alterations of Discordance / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: We aimed to analyze the discordance between immunohistochemistry (IHC)-based surrogate subtyping and PAM50 intrinsic subtypes and to assess overall survival (OS) according to discordance. MATERIALS AND METHODS: A total of 607 patients were analyzed. Hormone receptor (HR) expression was evaluated by IHC, and human epidermal growth factor receptor 2 (HER2) expression was analyzed by IHC and/or fluorescence in situ hybridization. PAM50 intrinsic subtypes were determined according to 50 cancer genes using the NanoString nCounter Analysis System. We matched concordant tumor as luminal A and HR+/HER2–, luminal B and HR+/HER2+, HR–/HER2+ and HER2–enriched, and triple-negative breast cancer (TNBC) and normal- or basal-like. We used Ion Ampliseq Cancer Panel v2 was used to identify the genomic alteration related with discordance. The Kaplan-Meier method was used to estimate OS. RESULTS: In total, 233 patients (38.4%) were discordant between IHC-based subtype and PAM50 intrinsic subtype. Using targeted sequencing, we detected somatic mutation–related discordant breast cancer including the VHL gene in the HR+/HER2– group (31% in concordant group, 0% in discordant group, p=0.03) and the IDH and RET genes (7% vs. 12%, p=0.02 and 0% vs. 25%, p=0.02, respectively) in the TNBC group. Among the luminal A/B patients with a discordant result had significantly worse OS (median OS, 73.6 months vs. not reached; p < 0.001), and among the patients with HR positivity, the basal-like group as determined by PAM50 showed significantly inferior OS compared to other intrinsic subtypes (5-year OS rate, 92.2% vs. 75.6%; p=0.01). CONCLUSION: A substantial portion of patients showed discrepancy between IHC subtype and PAM50 intrinsic subtype in our study. The survival analysis demonstrated that current IHC-based classification could mislead the treatment and result in poor outcome. Current guidelines for IHC might be updated accordingly.

EGFR Mutation Is Associated with Short Progression-Free Survival in Patients with Stage III Non-squamous Cell Lung Cancer Treated with Concurrent Chemoradiotherapy / Journal of the Korean Cancer Association, 대한암학회지

PURPOSE: This study was conducted to evaluate the relationship between epidermal growth factor receptor (EGFR) mutation and clinical outcomes in patients with stage III non-squamous cell lung cancer treated with definitive concurrent chemoradiotherapy (CCRT). MATERIALS AND METHODS: From January 2008 to December 2013, the medical records of 197 patients with stage III non- squamous non-small cell lung cancer treated with definitive CCRT were analyzed to determine progression-free survival (PFS) and overall survival (OS) according to EGFR mutation status. RESULTS: Among 197 eligible patients, 81 patients were EGFR wild type, 36 patients had an EGFR mutation (exon 19 Del, n=18; L858R, n=9, uncommon [G719X, L868, T790M], n=9), and 80 patients had unknown EGFR status. The median age was 59 years (range, 28 to 80 years) and 136 patients (69.0%) were male. The median follow-up duration was 66.5 months (range, 1.9 to 114.5 months). One hundred sixty-four patients (83.2%) experienced disease progression. Median PFS was 8.9 months for the EGFR mutation group, 11.8 months for EGFR wild type, and 10.5 months for the unknown EGFR group (p=0.013 and p=0.042, respectively). The most common site of metastasis in the EGFR mutant group was the brain. However, there was no significant difference in OS among the three groups (34.6 months for EGFR mutant group vs. 31.9 months for EGFR wild type vs. 22.6 months for EGFR unknown group; p=0.792 and p=0.284). A total of 29 patients (80.6%) with EGFR mutation were treated with EGFR tyrosine kinase inhibitor (gefitinib, n=24; erlotinib, n=3; afatinib, n=2) upon progression. CONCLUSION: EGFR mutation is associatedwith short PFS and the brain is the most common site of distant metastasis in patients with stage III non- squamous cell lung cancer treated with CCRT.

Checkrein Deformity Due to Flexor Digitorum Longus Adhesion after Comminuted Calcaneus Fracture: A Case Report / 대한족부족관절학회지

The checkrein deformity describes tethering of the flexor hallucis longus tendon, which mainly occurs after fracture of the distal tibia. The deformity increases with dorsiflexion of the ankle and decreases or disappears with plantarflexion of the ankle. In some cases, the deformity may occasionally include the second and third toes. In the current study, the authors experienced secondary checkrein deformity of all lesser toes after open reduction and plate fixation for comminuted fracture of the calcaneus. As a treatment, plate and screws were removed, followed by an additional medial incision which showed a partially ruptured flexor digitorum longus tendon with severe adhesion. Resection of the adhesed tendon and tenodesis of its distal portion to the flexor hallucis longus was performed for correction of the checkrein deformity. Then the lessor toe checkrein deformity recovered immediately. The authors report on this rare lessor toe checkrein deformity after calcaneal fracture fixation with a review of literature.

Posterior Cerebral Artery Infarction in a Patient with Coexisting Hereditary Hemorrhagic Telangiectasia and Patent Foramen Ovale

Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk of developing pulmonary arteriovenous malformations (pAVMs). Paradoxical embolism may occur through pAVMs or patent foramen ovale (PFO) and lead to cerebral infarction. We present a case of cerebral infarction with both pAVM associated with HHT and PFO. Evidence of a right-to-left shunt can suggest other treatment options for stroke prevention, and patients without evidence of conventional stroke etiologies require a thorough evaluation.

Posterior Cerebral Artery Infarction in a Patient with Coexisting Hereditary Hemorrhagic Telangiectasia and Patent Foramen Ovale

Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk of developing pulmonary arteriovenous malformations (pAVMs). Paradoxical embolism may occur through pAVMs or patent foramen ovale (PFO) and lead to cerebral infarction. We present a case of cerebral infarction with both pAVM associated with HHT and PFO. Evidence of a right-to-left shunt can suggest other treatment options for stroke prevention, and patients without evidence of conventional stroke etiologies require a thorough evaluation.

Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement

Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and sensory neuropathy type VI (HMSN VI) and is caused by mitofusin 2 gene (MFN2) mutation. In patients with MFN2 related CMT, central nervous system is known to be also involved and cerebral white matter is mostly involved. We report a patient confirmed as HMSN VI who had isolated bilateral middle cerebellar peduncular lesions in brain MRI.

Angiomatoid Fibrous Histiocytoma as a Second Tumor in a Young Adult with Testicular Cancer / Journal of the Korean Cancer Association, 대한암학회지

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor, with a low-grade malignant potential, occurring predominantly in children and young adults. Association between AFH and other malignancies has been rarely reported. A 27-year-old man who presented with a palpable abdominal mass was diagnosed as having testicular cancer with multiple liver and lung metastases. At 16 months after chemotherapy, a follow-up computed tomographic scan revealed a supraclavicular mass measuring 3 cm in size, which was suspected to be a recurrence. The patient underwent surgical excision, and the mass was pathologically diagnosed as a AFH. The patient has had no local recurrence and no distant metastasis for 12 months after resection. To the best of our knowledge, this is the first case report of AFH as a second tumor in a patient with testicular cancer.

A Case of Thyrotoxic Myopathy with Extreme Type 2 Fiber Predominance

In hyperthyroidism, many patients had neuromuscular symptoms and clinical weakness correlated with free thyroxine (T4) concentrations. The common clinical symptoms of chronic thyrotoxic myopathy were characterized by progressive weakness in proximal muscles and atrophy. A 55-year old woman was visited our hospital with two years of progressive weakness of both legs. Physical examination showed diffuse enlargement of the thyroid gland, muscle atrophy and tachycardia. Motor examination showed proximal weakness in both legs. Serum creatine phosphokinase was normal and electromyography showed a myopathic pattern. Serum thyroxine (T4) was greatly increased and serum thyroid stimulating hormone was very low. Muscle biopsy showed mild atrophic change and type 2 fiber predominance. The patient's symptoms were improved during treatment with methimazole. Herein we report a case of thyrotoxic myopathy with extreme type 2 fiber predominance histologically.

Transient Contralateral Tactile and Auditory Extinction After Left Thalamic Hemorrhage

Right-sided neglect after an acute, left subcortical brain injury is a rare phenomenon for several reasons including its rapid resolution and decreased clinical suspicion. Here we present a case of a 72-year-old right-handed man who presented with right auditory and sensory extinction following a left thalamic intracerebral hemorrhage without visual extinction, sensory or corticosensory deficits, and discuss the mechanisms involved in this infrequently encountered stroke syndrome.

Osteoid Osteoma of the Capitate with Extensor Tenosynovitis

An osteoid osteoma is a benign bone tumor. It is most commonly found in the femur and tibia but only 5% to 15% occurs in hand. Osteoid osteoma of carpal bone has vague nature of symptoms including spontaneous dull aching causing delayed diagnosis and the late treatment. We had a patient with an osteoid osteoma of the capitate bone presenting with tenosynovitis. We present clinical and radiological findings including magnetic resonance imaging, surgical result, and a review of the current literature.

Renal Insufficiency Secondary to Leukemic Infiltration in Chronic Lymphocytic Leukemia: A Case Report / 대한내과학회지

Renal infiltration is common in chronic lymphocytic leukemia (CLL), but renal impairment caused by leukemic infiltration is rare. This report describes the case of a 38-year-old man with CLL who required no medical treatment for 1 year and was admitted with nonoliguric renal insufficiency (proteinuria > 2,000 mg/day). A renal biopsy subsequently revealed leukemic infiltration by CLL. Treatment with fludarabine plus cyclophosphamide resulted in the improvement of renal function. Leukemic infiltration should be considered in the differential diagnosis of a patient with CLL and impaired renal function because renal impairment often responds well to chemotherapy.

A Rare Case of Aortic Valve Myxoma: Easy to Confuse With Papillary Fibroelastoma

Myxoma of the aortic valve is an exceedingly uncommon condition. In this article, we report the case of a 72-year-old man with myxoma arising from the aortic valve. We extirpated the mass and repaired the aortic valve with the patient under cardiopulmonary bypass. The postoperative course was uneventful. Histological examination confirmed that the mass was a myxoma.

A Perirenal Abscess Recurring with Methicillin-Resistant Staphylococcus Aureus and Mycobacterium Tuberculosis Co-Infection after Treatment of Escherichia Coli Infection: A Case Report / 대한신장학회지

Renal and perirenal abscesses are disease entities caused by infections in or around the kidneys. As imaging modalities have improved in quality and convenience, diagnosing these diseases has become easier. Some cases are refractory to conventional treatment and require surgical correction, although most patients can be cured by antibiotic treatment and percutaneous drainage. We here report the case of a patient with a perirenal abscess that recurred twice after appropriate antibiotic treatment and percutaneous drainage. Although Gram-negative bacilli are the most common pathogenic cause of these diseases, we isolated methicillin-resistant Staphylococcus aureus and Mycobacterium tuberculosis in our patient. Thus, poor responses to appropriate treatment in patients with a perirenal abscess can result not only from antimicrobial resistance or a co-infection but also from the 2 conditions existing concomitantly.

Clinical Analysis of Surgical Geriatric Patients over 65 Years of Age

As the span of life is prolonged by socioeconomic and medical development, the percentage of the geriatric population is increasing annually. Now, surgical therapy for the geriatric patients is an important area of medicine. To understand the clinical significance of surgical geriatric patients, an analysis was made of the records at the Surgical Department of City hospital, East Seoul, for 182 patients over 65 years of age, who were treated from January 1990 through December 1995. The results are as follows: 1) The number of surgical patients admitted during the 6 years was 2,734, and the number of surgical geriatric patients admitted during the same period was 257 patients (9.4% of all surgical patients). The percentage of geriatric patients show an increasing tendency from 8.1% in 1994 to 11.3% in 1995. 2) The sex distribution was 140 male patients (54.5%) and 117 female patients (45.3%), a ratio of 1 : 0.83. 3) The average duration of admission was 18.2 days and durations of admission of less than 1 week were most common (21.8% of all geriatric admissions). 4) Of the 182 cases treated surgically, 139 cases (76.4%) involved general anesthesia, 32 cases (17.6%) anesthesia administered spinally, and 11 cases (60%) local anesthesia; One hour or less of general anesthetic time was most common (41.7%). 5) Malignant disease was found in 46 patients (25.3%); stomach cancer was the most frequently found malignant disease. Non-malignant disese was found in 136 patients (74.7%); appendicitis was the most frequently found non-malignant disease. 6) Coexistent disease was noticed in 108 patients (59.3%); cardiovascular disease was the most frequently found (27.1%), and chronic pulmonary disease (21.3%) and hypoproteinemia (14.2%) were next. 7) Operations were performed on 182 patients of the total 257 patients, operation rate of 70.8%. The old age group had a low operation rate. 8) Postoperative complications were occurred in 43 cases (23.6%), and operative mortality was 2.7%. The significant factors affecting postoperative morbidity and mortality were malignancy, long duration for the general anesthetic time, coexistent disease, and emergency operation. The results suggest that the number and the rate of surgical geriatric patients have increased and that age has little effect on the postoperative prognosis. Thus, we believe that more active preoperative treatment, complete therapy for coexistent disease, execution of elective surgery and a short anesthetic time for intentional surgery are important factors for decreasing postoperative morbidity and mortality for surgical geriatric patients.