A Case of Extramedullary Plasmacytoma in Both Maxillary Sinuses

Plasmacytoma is a rare hematolymphoid malignancy. The three types of plasmacytoma, according to clinical features and morphological characteristics, include solitary bone plasmacytoma, extramedullary plasmacytoma (EMP), and multiple myeloma (MM). Although EMP of the head and neck region accounts for approximately 3% of all plasma cell tumors, the involvement of both paranasal sinuses is extremely rare. Herein, we describe a rare case of EMP involving both maxillary sinuses in a 73-year-old male patient who had achieved complete remission from MM following chemotherapy 2 years ago. The EMP was treated successfully with radiotherapy.

Distinguishing CT and MR Imaging Features of Postprocedural Inflammation and Infectious Spondylodiscitis After Intradiscal Electrothermal Therapy

Purpose@#To investigate whether the signal or morphological changes in the adjacent bone or soft tissue after intradiscal electrothermal therapy (IDET) occur due to postprocedural inflammation or infectious spondylodiscitis. @*Materials and Methods@#Ten patients (female:male = 5:5; age range, 18–71 years; mean age: 36.5 years) who underwent lumbar IDET between January 2018 and December 2020 and complained of fever or pain were included in this study. The presence and extent of bone marrow and paraspinal soft tissue signal changes were evaluated using the first follow-up magnetic resonance imaging (MRI) after IDET. Signal changes in the treated discs and the presence and extent of epidural enhancement were evaluated. Additionally, we investigated the presence and margins of subchondral erosions in the vertebral body. @*Results@#Two radiologists analyzed the imaging findings by consensus. Six patients were diagnosed with postprocedural inflammation and four with infectious spondylodiscitis, which was confirmed by specimen culture after surgery. All 10 patients showed signal changes in the bone marrow of the vertebral bodies adjacent to the treated disc. Signal changes in the paraspinal soft tissue were observed in only five patients: three with infectious spondylodiscitis and two with postprocedural inflammation. In six patients with postprocedural inflammation, subchondral erosions had well-defined margins with a sclerotic rim and in four patients with infectious spondylodiscitis, subchondral erosions had ill-defined margins. Epidural enhancement showed an extensive pattern in all cases of infectious spondylodiscitis and localized patterns in cases of postprocedural inflammation. @*Conclusion@#MRI or computed tomography findings of well-defined subchondral erosions with a sclerotic rim and more localized signal changes in the paraspinal soft tissue or epidural space might aid in the differentiation of infectious spondylodiscitis and postprocedural inflammation in patients who underwent IDET.

The Association of APOE e4 Genotype With Cognition, Brain Volume, Glucose Metabolism, and Amyloid Deposition in AD

Objective@#The purpose of this study is to investigate the association of the apolipoprotein E (APOE) e4 genotype with cognition, brain volume, glucose metabolism, and amyloid deposition in patients with Alzheimer disease (AD). @*Methods@#This is cross-sectional study of 69 subjects with AD. All subjects were divided into carriers and non-carriers of the e4 allele. Forty APOE e4 carriers and 29 APOE e4 non-carriers underwent neuropsychological, structural magnetic resonance imaging, [18F]fluorodeoxyglucose positron emission tomography scans (PET) and [18F]florbetaben amyloid PET. Analysis of co-variance was conducted to compare the differences on cognition, brain volume, glucose metabolism and amyloid deposition between APOE e4 carriers and non-carriers after controlling demographics. @*Results@#APOE e4 carriers had 50% lower scores of Seoul Verbal Learning Test (delayed recall) compared to non-carriers (0.88±1.65 vs. 1.76±1.75, p<0.05). However, APOE e4 carriers performed better on other cognitive tests than non-carriers (Korean version of Boston Naming Test [11.04±2.55 vs. 9.66±2.82, p<0.05], Rey Complex Figure Test [25.73±8.56 vs. 20.15±10.82, p<0.05], and Stroop test [color response] [48.28±26.33 vs. 31.56±27.03, p<0.05]). APOE e4 carriers had slightly smaller hippocampal volume than non-carriers (3.09±0.38 vs. 3.32±0.38, p<0.05), but greater total brain cortical thickness (1.45±1.55 vs. 1.37±1.24, p<0.05). Amyloid deposition did not differ significantly between APOE e4 carriers and non-carriers, and no signifi-cant difference in glucose metabolism was found between groups. @*Conclusion@#We found that APOE e4 genotype is associated with cognition, brain volume in AD, suggesting that APOE e4 genotype could play an important role in the underlying pathogenesis of AD.

A rare case of pure-type embryonal carcinoma in a 75-year-old woman mimicking epithelial ovarian carcinoma / 고신대학교의과대학학술지

Embryonal carcinoma, a very rare ovarian germ cell tumor, involves pure and mixed phenotypes. Pure-type embryonal carcinoma has never been reported in postmenopausal women. The current case was, thus, misdiagnosed as an epithelial ovarian carcinoma based on radiologic findings. Herein, we describe the case of ovarian embryonal carcinoma in a 75-year-old woman along with a literature review. Magnetic resonance imaging findings were suggestive of epithelial ovarian malignancy associated with endometrioma, including ureteral invasion. The patient underwent complete surgical staging, and a pathologic diagnosis of pure-type embryonal carcinoma was made. The patient’s postoperative course was uneventful, and adjuvant chemotherapy was administered. Embryonal carcinoma in the postmenopausal woman is a clinical challenge owing to the possibility of its misdiagnosis as epithelial ovarian carcinoma. To the best of our knowledge, this is the first report of pure-type ovarian embryonal carcinoma in a postmenopausal woman, with a description of the clinicopathologic characteristics and review of the relevant literature.

Reduced Volume of Anterior Corpus Callosum in Alzheimer’s Disease With Psychotic Symptoms: Cross-Sectional Magnetic Resonance Imaging Study

Objective@#Although previous studies have shown association between anterior corpus callosum (ACC) and various psychotic disorder, the effect of ACC on development on psychotic symptoms in Alzheimer’s disease (AD) is still unclear. The purpose of this study is to investigate the association of ACC with the development of psychosis in patients with AD. @*Methods@#This is a hospital based cross-sectional study of 241 AD patients. The main outcome measure is the volume of ACC that were measured as regions of interest with magnetic resonance imaging and the FreeSurfer analysis at baseline. Analysis of covariance and Logistic regression analysis conducted to assess the association between the volume of ACC and the presence of psychosis in AD, adjusting for age, education, Clinical Dementia Rating-Sum of Boxes, and total intracranial volume. @*Results@#We found that the volume of ACC is significantly reduced in AD with psychosis (AD+P) compared to AD without psychosis (AD-P) (774.27±142.96 vs. 833.09±142.04, p=0.005). The volume of ACC associated with the presence of psychosis in AD (odds ratio=0.995; 95% confidence interval=0.993-0.997; p=0.006). @*Conclusion@#We have found that reduced volume of ACC in AD+P, suggesting that ACC might play an important role in the underlying pathogenesis of development of psychotic symptoms in AD.

Choroid Plexus and Its Association of Subtypes of Delusion in Patient With Alzheimer’s Disease

Objective@#This study examined the volume of choroid plexus across AD without delusion (AD-D), AD with paranoid delusion (AD+PD), and AD with misidentification delusion (AD+MD). @*Methods@#This is a hospital based cross-sectional study of patients with AD. The main outcome measure is the volume of choroid plexus that were measured as regions of interest with magnetic resonance imaging and the FreeSurfer analysis at baseline. Analysis of covariance (ANCOVA) was conducted to compare the differences on the volume of choroid plexus across AD-D, AD+PD, and AD+MD after controlling demographics. @*Results@#There was no volume difference in the both choroid plexus between AD-D and AD+D. However, the volumes of both cho-roid plexus were significantly reduced in AD+MD compared to AD+PD. @*Conclusion@#Our study demonstrates that AD+MD has significantly reduced volumes of choroid plexus compared to AD+PD. These findings suggest that AD+MD and AD+PD may have different pathophysiological mechanisms related to neuroimmune re-sponses in the choroid plexus.

Malignant Tenosynovial Giant Cell Tumor Presenting as an Extra-Articular Superficial Soft-Tissue Mass in a Knee

Malignant tenosynovial giant cell tumor (TsGCT) is a rare disease that can arise as a recurrent lesion or co-exist with a benign TsGCT lesion. Here we report a rare case of malignant TsGCT in a 73-year-old male with a history of lymphoma. The tumor appeared as a superficial soft-tissue mass in the subcutaneous fat tissue of the left knee.

An Autopsy Confirmed Case of Amyotrophic Lateral Sclerosis with TDP Pathology

The phosphorylated 43-kDa transactive response DNA-binding protein (TDP-43) was identified as a major disease protein in sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration. We present a case with progressive muscle weakness who was diagnosed with sporadic ALS. On postmortem examination, TDP-43 immunoreactive neuronal cytoplasmic inclusions were noted in motor cortex, hippocampus and anterior horns of spinal cord, which was compatible with ALS-TDP, stage 4. This is the first documented autopsy-confirmed ALS case with ALS-TDP pathology in Korea.

Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis

Background@#Early identification of patients with high-risk papillary thyroid microcarcinoma (PTMC) that is likely to progress has become a critical challenge. We aimed to identify somatic mutations associated with lateral neck lymph node (LN) metastasis (N1b) in patients with PTMC. @*Methods@#Whole-exome sequencing (WES) of 14 PTMCs with no LN metastasis (N0) and 13 N1b PTMCs was performed using primary tumors and matched normal thyroid tissues. @*Results@#The mutational burden was comparable in N0 and N1b tumors, as the median number of mutations was 23 (range, 12 to 46) in N0 and 24 (range, 12 to 50) in N1b PTMC (P=0.918). The most frequent mutations were detected in PGS1, SLC4A8, DAAM2, and HELZ in N1b PTMCs alone, and the K158Q mutation in PGS1 (four patients, Fisher’s exact test P=0.041) was significantly enriched in N1b PTMCs. Based on pathway analysis, somatic mutations belonging to the receptor tyrosine kinase-RAS and NOTCH pathways were most frequently affected in N1b PTMCs. We identified four mutations that are predicted to be pathogenic in four genes based on Clinvar and Combined Annotation-Dependent Depletion score: BRAF, USH2A, CFTR, and PHIP. A missense mutation in CFTR and a nonsense mutation in PHIP were detected in N1b PTMCs only, although in one case each. BRAF mutation was detected in both N0 and N1b PTMCs. @*Conclusion@#This first comprehensive WES analysis of the mutational landscape of N0 and N1b PTMCs identified pathogenic genes that affect biological functions associated with the aggressive phenotype of PTMC.

Comparison of Neuropathological Characteristics between Multiple System Atrophy Cerebellar Type and Parkinsonian Type

Background@#Multiple system atrophy (MSA) is a sporadic neurodegenerative disease characterized by various combinations of parkinsonism, cerebellar ataxia, autonomic dysfunction and pyramidal signs. Two clinical subtypes are recognized: MSA with predominant cerebellar ataxia (MSA-C) and MSA with predominant parkinsonism (MSA-P). The aim of this study was to compare pathological features between MSA-C and MSA-P. @*Methods@#Two autopsy confirmed cases with MSA were included from the Pusan National University Hospital Brain Bank. Case 1 had been clinically diagnosed as MSA-C and case 2 as MSA-P. The severity of neuronal loss and gliosis as well as the glial and neuronal cytoplasmic inclusions were semiquantitatively assessed in both striatonigral and olivopontocerebellar regions. Based on the grading system, pathological phenotypes of MSA were classified as striatonigral degeneration (SND) predominant (SND type), olivopontocerebellar degeneration (OPC) predominant (OPC type), or equivalent SND and OPC pathology (SND=OPC type). @*Results@#Both cases showed widespread and abundant α-synuclein positive glial cytoplasmic inclusions in association with neurodegenerative changes in striatonigral or olivopontocerebellar structures, leading to the primary pathological diagnosis of MSA. Primary age-related tauopathy was incidentally found but Lewy bodies were not in both cases. The pathological phenotypes of MSA were MSA-OPC type in case 1 and MSA-SND=OPC type in case 2. @*Conclusions@#Our data suggest that clinical phenotypes of MSA reflect the pathological characteristics.

Continuous quality improvement program and its results of Korean Society for Cytopathology

Since 1995, the Korean Society for Cytopathology has overseen the Continuous Quality Improvement program for cytopathology laboratories. The Committee of Quality Improvement has carried out an annual survey of cytology data for each laboratory and set standards for proficiency tests. Methods: Evaluations were conducted four times per year from 2008 to 2018 and comprised statistics regarding cytology diagnoses of previous years, proficiency tests using cytology slides provided by the committee, assessment of adequacy of gynecology (GYN) cytology slides, and submission of cytology slides for proficiency tests. Results: A total of 206 institutes participated in 2017, and the results were as follows. The number of cytology tests increased from year to year. The ratio of liquid-based cytology in GYN gradually decreased, as most of the GYN cytology had been performed at commercial laboratories. The distribution of GYN diagnoses demonstrated nearly 3.0% as atypical squamous cells. The rate for squamous cell carcinoma was less than 0.02%. The atypical squamous cell/squamous intraepithelial lesion ratio was about 3:1 and showed an upward trend. The major discordant rate of cytology-histology in GYN cytology was less than 1%. The proficiency test maintained a major discordant rate less than 2%. The rate of inappropriate specimens for GYN cytology slides gradually decreased. Conclusions: The Continuous Quality Improvement program should be included in quality assurance programs. Moreover, these data can contribute to development of national cancer examination guidelines and facilitate cancer prevention and treatment.

A Conjunctival Myxoid Stromal Tumor

Purpose@#We report a conjunctival myxoid stromal tumor (CMST), which is a rare benign conjunctival mass.Case summary: A 70-year-old man with a history of hypertension and cerebral infarction visited our hospital with a clear mass ofthe conjunctiva in the left eye. His visual acuity was normal, and no other abnormal findings were noted. A transparent, yellowish,jelly-like, 4 × 3 mm mass with a clear border between it and the surrounding tissue was found at the lower temporal part of theconjunctiva. The mass was mobile and there was no pain or tenderness. Excisional biopsy was performed on the mass.Histopathological examination showed reticular fibers located in an abundant mucus-like matrix with fusiform, astrocytic andscattered inflammatory cells. Immunologic examination revealed CD34 positive and SMA negative findings and we diagnosedthe mass as a CMST. @*Conclusions@#When there is a clear pale yellow to light pink mass with a clear border and a distinct vascular distribution or pigmentationin the conjunctiva, the possibility of a CMST must be considered. Histopathologic and immunologic examinationshould be performed through biopsy and evaluation for systemic disease should be performed as necessary.

Prognostic Indicators of Extremity Liposarcoma / 대한정형외과학회잡지

Purpose@#The aim of this retrospective study was to define the prognostic factors for liposarcoma to aid in the selection of effectivetreatments. @*Materials and Methods@#This study analyzed 41 cases out of 45 cases diagnosed with and treated for liposarcoma 2002 to 2015; 4 casesof well-differentiated liposarcoma were excluded. The effects of sex, age, site, stage, and histological classification on survival wereanalyzed retrospectively. For 28 cases diagnosed with myxoid liposarcoma, additional analysis was performed after the inclusion of roundcell components. @*Results@#The mean age at diagnosis was 52.05 years (range 25–82 years) and the average follow-up period was 63.7 months. The diseasefreesurvival rate was 43.2%. Most factors, including sex and age, were not significantly associated with the survival rate. On the otherhand, the stage (Musculoskeletal Tumor Society stage) was significantly associated with the survival rate. The survival rate of patients withmyxoid liposarcoma was 69% and the local recurrence and metastasis results varied according to the presence of round cells. @*Conclusion@#The stage of liposarcoma and the sex of the patient were found to be effective factors for prognosis. When planning thetreatment for liposarcoma, the treatment outcome for liposarcoma differs according to several prognostic factors.

Treatment of Enchondroma in the Hands and Feet / 대한정형외과학회잡지

Purpose@#The purpose of this study was to suggest an appropriate treatment method by comparing nonsurgical treatment and surgical treatment for enchondroma in the hands and feet. @*Materials and Methods@#Seventy four cases with enchondroma of the hands and feet from January 1996 to March 2017 were selected to evaluate the functional outcomes. Thirty cases were treated with nonsurgical treatment, and 44 cases were treated with surgical treatment, such as curettage only or curettage with a bone graft. The mean follow-up period was 18.1 months. The functional results were analyzed using the Wilhelm and Feldmeier formula. @*Results@#The mean age was 38 years, and the age range was between eight and 69 years. According to the Wilhelm and Feldmeier formula, the mean score of hand enchondroma was 3.09±0.85 and 3.20±0.91 in the non-operative and operative group, respectively. The mean scores of the foot except for the grip strength were 2.57±0.79 and 2.75±0.50, respectively. No significant difference was observed according to the functional results. Among the 18 cases of enchondroma with pathological fractures, nine cases were treated non-surgically and nine cases were treated by surgically. In all 18 cases, complete bone healing was observed at the final follow-up. @*Conclusion@#Relatively satisfactory results were obtained in both surgical and nonsurgical treatment and there was no significant difference in functional outcomes. In cases of enchondroma in the hands and feet, nonsurgical treatment can also be a good treatment option.

Prognostic Significance of CD109 Expression in Patients with Ovarian Epithelial Cancer

BACKGROUND: Ovarian epithelial cancer (OEC) is the second-most common gynecologic malignancy. CD109 expression is elevated in human tumor cell lines and carcinomas. A previous study showed that CD109 expression is elevated in human tumor cell lines and CD109 plays a role in cancer progression. Therefore, this study aimed to determine whether CD109 is expressed in OEC and can be useful in predicting the prognosis. METHODS: Immunohistochemical staining for CD109 and reverse transcription-quantitative polymerase chain reaction was performed. Then we compared CD109 expression and chemoresistance, overall survival, and recurrence-free survival of OEC patients. Chemoresistance was evaluated by dividing into good-response group and poor-response group by the time to recurrence after chemotherapy. RESULTS: CD109 expression was associated with overall survival (p = .020), but not recurrence-free survival (p = .290). CD109 expression was not an independent risk factor for overall survival due to its reliability (hazard ratio, 1.58; p = .160; 95% confidence interval, 0.82 to 3.05), although we found that CD109 positivity was related to chemoresistance. The poor-response group showed higher rates of CD109 expression than the good-response group (93.8% vs 66.7%, p = .047). Also, the CD109 mRNA expression level was 2.88 times higher in the poor-response group as compared to the good-response group (p = .001). CONCLUSIONS: Examining the CD109 expression in patients with OEC may be helpful in predicting survival and chemotherapeutic effect.

An Autopsy Confirmed Case of Semantic Variant Primary Progressive Aphasia with Frontotemporal Lobar Degeneration-TDP type C

A 62-year-old man presented with a one-year history of word finding difficulty, impaired single word comprehension and personality changes including aggression, apathy and eating change. Brain MRIs showed severe atrophy in the left anterior temporal lobe. The clinical syndromic diagnosis was semantic variant primary progressive aphasia. He died at age 70 of pneumonia. At autopsy, transactive response DNA-binding protein (TDP) immunoreactive long dystrophic neurites were predominantly found in the cerebral cortices, which were compatible with frontotemporal lobar degeneration-TDP type C pathology.

A Rare Manifestation of Solitary Primary Bone Lymphoma of the Finger: a Case Report

Primary extranodal bone lymphoma involving the peripheral extremities is extremely rare. Here, we report a definitive case of diffuse large B-cell lymphoma involving the phalangeal bone of the 3rd finger. Systemic evaluation revealed the lesion as the only site of lymphoma involvement.

Intraosseous hemangioma of the orbit

Intraosseous hemangioma is an extremely rare tumor that accounts for 1% or fewer of all osseous tumors. The most common sites of its occurrence are the vertebral column and calvaria. Occurrence in a facial bone is very rare. The authors aim to report a case of the surgical treatment of intraosseous hemangioma occurring in the periorbital region, which is a very rare site of occurrence and to introduce our own experiences with the diagnosis and treatment of this condition along with a literature review. A 73-year-old male patient visited our hospital with the chief complaint of a mass touching the left orbital rim. A biopsy was performed by applying a direct incision after local anesthesia. Eventually, intraosseous hemangioma was diagnosed histologically. To fully resect the mass, the orbital floor and zygoma were exposed through a subciliary incision under general anesthesia, and then the tumor was completely eliminated. Bony defect was reconstructed by performing a seventh rib bone graft. Follow-up observation has so far been conducted for 10 months after surgery without recurrence or symptoms.

A rare case of isolated schwannoma in infraorbital nerve

A schwannoma is a benign tumor that develops from Schwann cells. It is known to occur more frequently in women than men, and about one third of schwannoma cases occur in the head and neck area. It is also known to originate mainly in the auditory nerve. However, it is rarely associated with the trigeminal nerve, and especially, schwannomas related to the infraorbital nerve are very rare. we report a rare case of a schwannoma involving the infraorbital branch of the trigeminal nerve in a 45-year old male adult. The patient underwent physical examination and magnetic resonance imaging. The mass was approached through subciliary approach that is familiar to the plastic surgeon and completely resected. Histopathological findings showed pointed to a benign schwannoma. Infraorbital nerve schwannoma is difficult to distinguish from other diseases by means of clinical symptoms, physical findings, or imaging. In spite of its rarity, infraorbital nerve schwannoma may be considered a possible diagnosis in the case of mass on cheek. Assessment by computed tomography or magnetic resonance imaging is necessary for proper diagnosis. About the surgical approach, excision through the subciliary approach should be considered rather than the direct transfacial approach in view of stability, cosmetic effects, and familiarity.

Peptide YY producing strumal carcinoid tumor of the ovary in a postmenopausal woman: a rare cause of chronic constipation

Strumal carcinoid tumor of the ovary is a rare subtype of ovarian carcinoid tumors; it is characterized by an intimate mixture of thyroid and carcinoid tissues. We present a case of a 64-year-old woman who presented with the chief complaint of persistent, severe constipation for over 5 years; she was later found to have an ovarian strumal carcinoid tumor. Computed tomography showed a well-defined solid mass measuring 6.4 cm at the right adnexa. The patient underwent right salpingo-oophorectomy and was histopathologically diagnosed as having a strumal carcinoid tumor. Immunohistochemical examination showed immunoreactivity for peptide YY (PYY), which exerts an inhibitory effect on the peristaltic actions of the distal intestine. After surgery, the patient's constipation resolved rapidly, suggesting a correlation between PYY producing ovarian carcinoid tumor and constipation. This is the first case report of PYY producing primary strumal carcinoid tumor of the ovary associated with persistent, severe constipation from Korea.