Myeloid sarcoma is a rare extramedullary myeloid tumor, which is frequently misdiagnosed when no evidence of leukemia is initially observed. Here, we report on a peculiar case of a 49-year-old man afflicted with multiple masses in the jejunum, the superior mesentery, and the serosa of the transverse colon, without leukemic manifestation. The tumor was composed of undifferentiated small round cells containing eosinophilic cytoplasm, which were negative for myeloperoxidase, nonspecific esterase, lysozyme, terminal deoxynucleotidyl transferase, leukocyte common antigen, CD3, CD4, CD15, CD20, CD30, CD43, CD56, CD68/PG-M1, CD79a, human melanoma black-45, c-kit, and CD34 with positivity only for CD68/KP1, CD99, and vimentin. Under electron microscopy, those cells had abundant membrane-bound cytoplasmic granules that measured 200 to 300 nm in diameter, which were consistent with granulocytic azurophilic granules. The tumor was finally diagnosed as a myeloid sarcoma. The presence of non-leukemic myeloid sarcomas showing immunonegativity for conventional myeloid-leukemic markers necessitated a diagnosis by ultrastructural observation.
Sarcoma, myeloid; Jejunum; CD68/KP1; CD99; Microscopy, electron
Metastatic calcification is rare; it is found during autopsy in patients who underwent hemodialysis. Diffuse calcium precipitation of small and medium-sized cutaneous vessels, known as calciphylaxis, can result in progressive tissue necrosis secondary to vascular calcification. This condition most commonly involves the skin; however, a rare occurrence of visceral calciphylaxis has been reported. Here we report on an autopsy case. Despite a thorough evaluation, and even performing an autopsy, the underlying cause of acute-onset hypercalcemia, resulting in the production of pulmonary calciphylaxis and metastatic renal calcification associated with acute respiratory and renal failure, could not be determined. Metastatic calcification often lacks specific symptoms, and the degree of calcification is a marker of the severity and chronicity of the disease. This unusual autopsy case emphasizes the importance of rapidly progressing visceral calciphylaxis, as well as its early detection.
Calcification; Hypercalcemia; Calciphylaxis
We report two cases of follicular adenoma of the thyroid with extensive extracellular mucin deposition. Fine needle aspiration in Case 1 showed singly discohesive polygonal cells in a granular mucinous background. They contained abundant eosinophilic cytoplasm, nuclear irregularities, and frequent nuclear inclusions with occasional bizarre mitoses. A right lobectomy was done. In Case 2, a 47-year-old Caucasian woman with multinodular goiter had total thyroidectomy and a yellow-tan nodule was found within the right lobe. Both tumors were well-encapsulated masses with thick capsules. Each was characterized by microfollicles without papillae in a mucinous stroma. Tumor cells were positive for thyroglobulin and negative for calcitonin, CEA, galectin-3, HBME-1, and CK19. The extracellular mucin stained with Alcian-blue and colloidal iron but not with mucicarmine and D-PAS. No BRAF gene mutation was detected. Because there were neither capsular nor vascular invasions, both cases were diagnosed as follicular adenomas of the thyroid with extensive extracellular mucin deposition, which as proposed by the WHO classification can be categorized as a mucinous variant of follicular adenoma. Retrospectively, frequent nuclear inclusions and the absence of nuclear grooves in the mucin-containing background of cytologic smears and histologic sections were shared by those of mucin-producing papillary carcinoma. It is unclear whether it belongs to an existing category of thyroid neoplasm with mucin production or whether it is truly a new tumor variant. Furthermore, pathologists should pay attention to avoid misdiagnosis of this variant of follicular neoplasm that shows an overlapping cytology with that of papillary carcinoma.
thyroid; mucin; follicular adenoma; aspiration; fine needle
To establish and validate a formula to predict spectral domain (SD)-optical coherence tomography (OCT) retinal nerve fiber layer (RNFL) thickness from time domain (TD)-OCT RNFL measurements and other factors.
SD-OCT and TD-OCT scans were obtained on the same day from healthy participants and patients with glaucoma. Univariate and multivariate linear regression relationships were analyzed to convert average Stratus TD-OCT measurements to average Cirrus SD-OCT measurements. Additional baseline characteristics included age, sex, intraocular pressure, central corneal thickness, spherical equivalent, anterior chamber depth, optic disc area, visual field (VF) mean deviation, and pattern standard deviation. The formula was generated using a training set of 220 patients and then evaluated on a validation dataset of 105 patients.
The training set included 71 healthy participants and 149 patients with glaucoma. The validation set included 27 healthy participants and 78 patients with glaucoma. Univariate analysis determined that TD-OCT RNFL thickness, age, optic disc area, VF mean deviation, and pattern standard deviation were significantly associated with SD-OCT RNFL thickness. Multivariate regression analysis using available variables yielded the following equation: SD-OCT RNFL = 0.746 × TD-OCT RNFL + 17.104 (determination coefficient [R2] = 0.879). In the validation sample, the multiple regression model explained 85.6% of the variance in the SD-OCT RNFL thickness.
The proposed formula based on TD-OCT RNFL thickness may be useful in predicting SD-OCT RNFL thickness. Other factors associated with SD-OCT RNFL thickness, such as age, disc area, and mean deviation, did not contribute to the accuracy of the final equation.
Glaucoma; Retinal nerve fiber layer; Spectral domain optical coherence tomography; Time domain optical coherence tomography
Pulmonary cystic and cavitary lesions caused by diverse etiologies are commonly encountered in chest imaging. The terms "cyst" and "cavity" are used to describe air-filled regions in the center of a nodule or consolidation of the lung. To date, only radiologic aspects of these lesions have been addressed. The morphologies of pulmonary cystic and cavitary lesions exhibit a broad spectrum, ranging from benign to malignant pulmonary diseases of acquired or congenital origin, including variable infectious diseases. In this review, we summarized the differential diagnosis of pathological entities to provide pathologists and radiologists with an overview of the diseases most commonly associated with pulmonary cystic and cavitary lesions in adults and children. The results showed slightly different patterns in the distribution of the diseases in the two groups. The most common causes of cavitary lesions include malignancy and infection in adults, and congenital malformation in children. Therefore, identification of pathologic entities correlating with the radiologic findings, clinical course, and location of the lesion is important in the evaluation of cystic and cavitary lung lesions in order to avoid unnecessary surgical procedures or delayed treatment.
Lung; Cysts; Cavity; Congenital; Malignant neoplasms
Here we report the first Korean case of a girl who developed noninvasive squamous cell carcinoma of the vulva at the age of 16 years. She was taking tacrolimus, an immunosuppressive agent, after living-related liver transplantation. The vulvar masses were microscopically proved as vulvar intraepithelial neoplasm II and III, even squamous cell carcinoma in situ. Human papillomavirus subtypes (69 and 73) and human papillomavirus types (66, 70, 73, and 43) were detected in the vulvar mass and the cervicovaginal smear, respectively. The outcome of liver transplantation for children has been markedly improved during the last several decades. However, the present case highlights the need to perform periodic genital examinations for the adolescents after liver transplantation. In addition to the high risk and probable high subtypes, uncommonly found human papillomavirus subtypes were extracted from her vulvar cancer. The present case is the first to show the possible relationship between previously unknown and uncommon human papillomavirus subtypes and pediatric post-transplant vulvar squamous cell carcinoma. More attention should be paid to the vulvar and cervical surveillance of pediatric transplant recipients by both medical specialists and general physicians.
Children; Human papillomavirus; Liver transplantation; Squamous cell carcinoma; Vulva
A 62-yr-old man presented with a 5-yr history of intermittent abdominal distention and pain. These symptoms persisted for several months and subsided without treatment. A diagnosis of suspected small bowel lymphoma was made based on plain radiograph and computerized tomogram findings, and he was referred to our institution for further evaluation. Segmental resection of the small intestine was performed and the diagnosis of marginal zone B-cell lymphoma associated with amyloidosis was made. This is the first case of marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT) in the small intestine associated with amyloidosis in Korea.
Gastrointestinal Tract; Lymphoma; Lymphoma, B-Cell, Marginal Zone; Amyloidosis
The purpose of this study was to investigate the prevalence and characteristics of glaucoma in the population of the rural Korean town, Sangju.
Residents of Sangju aged greater than 50 years old were included in this study. Participants completed an interview examining their medical and ophthalmic history Information was collected on the participants' uncorrected and best corrected vision scores, slit lamp examination results, angle width measurements using the Van Herick technique, gonioscopy if the angle width was less than 1 / 4 angle, intraocular pressure (IOP) assessed with the Goldmann applanation tonometry, optic disc examination results, and a visual field test results using frequency-doubling perimetry in cases in which glaucoma was suspected. Glaucoma was diagnosed according to the criteria described by the International Society for Geographic and Epidemiological Ophthalmology.
1,118 residents aged greater than 50 years were examined initially from a population of 2,984 people. Of these, 671 subjects (60%) participated in this study. The prevalence of glaucoma was determined to be 3.4% (95% confidence interval [CI], 2.1-4.8). Open-angle glaucoma with low IOP was determined to be the most common form with a prevalence rate as high as 2.5% (95% CI, 1.8-3.7). Additionally, primary angle closure glaucoma was determined to have a prevalence rate of 0.3% (95% CI, 0.1-0.9). Open-angle glaucoma with low IOP accounted for 94.4% of the open-angle glaucoma cases.
The prevalence of glaucoma among the population of rural Sangju was 3.4%, and open-angle glaucoma with low IOP was the most common form accounting for 94.4% of the total number of cases.
Epidemiology; Glaucoma; Open angle glaucoma; Prevalence
A 60-year-old woman who had experienced two episodes of amaurosis fugax in her right eye presented with vision loss. Two weeks earlier, at a private clinic, she was diagnosed with impending central retinal vein occlusion (CRVO) of the right eye and received an intravitreal injection of bevacizumab. Two weeks after this injection she was diagnosed with ischemic CRVO. At 11-weeks post-presentation, extremely ischemic features were observed with fluorescein angiographic findings of severe vascular attenuation and extensive retinal capillary obliteration. At 22-weeks post-presentation she was diagnosed with neovascular glaucoma; she experienced no visual improvement over the following several months.
Bevacizumab; Central retinal vein occlusion
A 51-yr-old man presented with an enlarged right testis for two months. The radically resected testis showed a relatively well-circumscribed ovoid mass, nearly replacing the normal architecture with central cystic changes. Microscopically, the mass was composed of ovoid shaped tumor cells of a moderately differentiated squamous cell carcinoma (SCC). The central portion of the mass was filled with well-formed laminated keratinous materials and the remnant cavity lined by dysplastic squamous epithelium, indicated SCC may be derived from an epidermal cyst. SCC is among the most common types of neoplasm afflicting human beings, but it is rare in the testis. To our knowledge, this is the second report of the testicular squamous cell carcinoma occurring in a patient without other primary tumors, and the firstly reported case in Korea.
Carcinoma, Squamous Cell; Testis
Most of thyroid lymphomas are B-lineage, and T-cell lymphomas are rare. Here, we report a case of primary thyroid T-cell lymphoma associated with Hashimoto's thyroiditis. A 48-yr-old woman presented with incidentally found neck mass. Histologically, the resected right lobe of the thyroid was replaced by monomorphic small atypical lymphoid cells with lymphoepithelial lesion-like change, most of which were immunoreactive for CD3, CD8, βF-1, and TIA-1. Peripheral T-cell lymphoma, unspecified, was finally diagnosed after molecular study for TCR-γ gene rearrangement. This is the second case of cytotoxic T-cell lymphoma reported in the thyroid gland so far. Unique association between thyroid follicles and neoplastic lymphocytes may be characteristic feature of this type of T-cell lymphoma.
Lymphoma, T-Cell; Thyroid Gland; T-Lymphocytes, Cytotoxic; Lymphoma, B-Cell, Marginal Zone
To report the experiences at our institute of pars plana vitrectomy (PPV) in combination with intravitreal triamcinolone acetonide (IVTA) injection in patients with retained lens material after cataract surgery.
The medical records of patients who underwent PPV between January 2005 and December 2006 after complicated cataract surgery in which lens material was dropped into the vitreous cavity were reviewed retrospectively.
Five eyes of five patients were treated by vitrectomy and removal of the dislocated lens material and were administered an adjuvant intravitreal injection of 4 mg triamcinolone acetonide at the end of surgery. IVTA administration induced a rapid improvement in vision within six weeks postoperatively. Final visual acuity was 20/32 or better in all patients. Inflammatory cystoid macular edema (CME) that existed preoperatively was promptly improved after IVTA. Intraocular pressure increased transiently in one patient. No procedure-related complications were observed.
PPV with additional IVTA was successfully performed in five eyes with retained lens material and resulted in a marked resolution of vitreous inflammation, an improvement in CME and rapid visual recovery. The authors recommend that IVTA administration should be investigated more thoroughly as an adjunct during the management of retained lens material.
Cataract; Cystoid macular edema; Dropped nucleus; Retained lens material; Triamcinolone acetonide
Clear cell ependymoma was included in the World Health Organization classification of the nervous system in 1993, and all the reported cases, except for two in the spinal cord, were located in the brain, mainly in the supratentorial compartment. Astrocytomas outnumber ependymomas in the spinal cord, and the two entities partly share cytologic findings such as long, bipolar glial processes and oval to round nuclei resembling those seen in pilocytic astrocytoma. Here, we report the first Korean case of intramedullary clear cell ependymoma of the spinal cord, which is the third case situated in the spinal cord in the literature. The crush smear revealed round-to-oval nuclei with occasional nuclear eosinophilic inclusion and rare nuclear grooves. Cytoplasm had fluffy eosinophilic glial processes, and acellular fibrillary zone. On hematoxylin-eosin stain, oval to round tumor cells had large central nuclei with indistinct nucleoli and a moderate amount of clear cytoplasm, i.e. perinuclear halo, mimicking oligodendroglioma. Perivascular pseudorosettes and ependymal clefts were rarely found. In retrospect, perinuclear halo was absent on crush smears. Ultrastructurally, they had extensive surface microvilli and edematous cytoplasm filled with abundant glial filaments and microlumens with or without microvilli. Intercellular long cell junctions of the zipper-like zonula adherens type were found.
Ependymoma, Clear Cell; Spinal Cord; Crush Smear; Microscopy, Electron
Primary cardiac tumors are extremely rare and can originate within the heart or be the result of tumor spread from other sites. We report a female patient with a pulmonary vein tumor extending into the left atrium that had a suspicious primary malignant origin with a sacral metastatic carcinoma. The patient was admitted complaining of pain in her buttock area as a result of a sacral tumor. It was believed that the sacral tumor was a metastasis from the imaging study and clinical manifestation. The primary malignant origin was evaluated. The chest CT showed a left atrium thrombus-like lesion without a pulmonary abnormality. After a transesophageal echocardiogram, the patient was diagnosed with a pulmonary vein tumor extending to the left atrium. The patient was given palliative radiotherapy for the sacral pain. Initially, the clinical impression was a metastatic sacral tumor with a thromboembolism of the left atrium. However, this patient was finally diagnosed with a pulmonary vein tumor with a left atrium extension by a transesophageal echocardiogram.
Pulmonary vein tumor; Left atrium tumor
Neurofibromatosis type 1 (von Recklinghausen's disease, NF-1) is an autosomal-dominant neurocutaneous disorder characterized by abnormal skin pigmentation (café au lait spots and axillary freckling), cutaneous and plexiform neurofibromas, skeletal dysplasias, and Lisch nodules (pigmented iris hamartomas). Gastrointestinal stromal tumors (GISTs) are the most common tumors of mesenchymal origin in the gastrointestinal tract, mesentery, omentum, and retroperitoneum. Here, we report a case of GIST in the ileum of a 76-year-old woman previously diagnosed as NF-1. She was admitted due to sudden onset of abdominal pain. Contrast enhanced CT scan revealed a moderately defined, peripherally enhanced soft tissue mass of about 8.8×7.3cm, originating from the small bowel in the left of the abdomen. Surgical excision was performed and the tumor was found to be composed of tumor cells that were positive for c-kit protein. The patient started imatinib treatment a month later, but stopped medication due to dyspepsia after a few months and eventually progressed after 18 months
Gastrointestinal Stromal Tumors; Neurofibromatosis
Methylation of p16 is an important mechanism in cervical carcinogenesis. However, the relationship between cervical squamous cell carcinoma (SCC) and Epstein-Barr virus (EBV) remains controversial. Here, we explored whether EBV infection and/or p16 gene inactivation would play any role in cervical carcinogenesis. Eighty-two specimens included 41 invasive SCCs, 30 cervical intraepithelial neoplasm (CIN; CIN 1, 11 cases, CIN II, 3 cases, CIN III 16 cases) and 11 nonneoplastic cervices. EBV was detected by polymerase chain reaction (PCR) for EBNA-1 and in situ hybridization for EBER-1. The p16 methylation-status and the expression of p16 protein were studied by methylation-specific PCR and immunohistochemistry, respectively. The materials were divided into four groups: 1) nonneoplastic cervices, 2) CIN I, 3) CIN II-III and 4) invasive SCCs. p16 methylation and p16 immunoexpressions increased in CIN and invasive SCCs than nonneoplastic tissue. p16-methylation and p16-immunoreactivities were higher in the EBV-positive group (p=0.009, p<0.001) than in the EBV-negative group. EBV was detected more frequently in CIN and SCCs than nonneoplastic cervices. In conclusion, a correlation between p16 methylation, p16 immunoreactivity and the detection of EBV strongly suggested that the cooperation of EBV and p16 gene may play a synergic effect on cell cycle deregulation.
Protein p16; Methylation; Herpesvirus 4, Human; Epstein-Barr Virus Infections; Cervix Neoplasms; Carcinogenesis
Angiosarcoma of the thyroid has long been a controversial entity, and it is histologically defined as cleft-like anastosmosing spaces lined by large, atypical cells of endothelial lineage. However, clear-cut separation between the angiosarcoma and anaplastic carcinoma of the thyroid is difficult because they yield nearly the same clinical prognosis and overlapping histologic findings. We report a case of thyroid neoplasm composed of minimally invasive well differentiated follicular carcinoma and angiosarcoma with intervening transitional area. Immunohistochemically, the angiosarcomatous portion showed focal immunoreactivity for endothelial markers such as CD31, CD34, Ulex europaeus 1 lectin, factor VIII-related antigen, and immunonegativity for epithelial markers including pancytokeratin, epithelial membrane antigen and thyroglobulin, whereas the reverse was demonstrated in the minimally invasive follicular carcinomatous portion. The follicular carcinoma portion was positive for thyroid transcription factor-1 (TTF-1). Each component showed ultrastructural findings of epithelial and endothelial differentiation, respectively. The present case was unique in that angiosarcoma of the thyroid was confirmed by immunohistochemistry and electron microscopy, as well as light microscopy, and also coexisted with a minimally invasive well differentiated follicular carcinoma in the same mass. This combination has never been described in the literature. Although restricted to a single case, the present case further supports that angiosarcoma is a true existent entity rather than a variant of anaplastic carcinoma.
Rhinoscleroma is a chronic, granulomatous infectious lesion most frequently affecting the respiratory tract mucosa. This disease is endemic to Africa, Central and South America, South Central and Eastern Europe, the Middle East, and China. We report an extremely rare disease of nasal rhinoscleroma in Korea. The patient was a 63-yr-old man, who suffered from chronic nasal obstruction and septal deviation. Characteristic histology from a nasal biopsy was proven and special stains for bacteria were employed: periodic acid-Schiff, Warthin-Starry silver, Giemsa, and Gram stains. Isolation of Klebsiella rhinoscleromatis from a culture of nasal discharge was failed, but ultrastructural examination of numerous phagocyzed bacilli in the Mikulicz cells confirmed the diagnosis. The histiocytic nature of the Mikulicz cells was confirmed, using CD 68 and alpha-1 antitrypsin, and by the ultrastructural features of Mikulicz cells. Here, we emphasize the recognition of this rare entity in nonendemic regions, frequently leading to delayed diagnosis.
Scrotal leiomyomas with atypical bizarre nuclei are rare, which might be misdiagnosed as malignant tumor. We describe a case of scrotal bizarre leiomyoma in a 65-yr-old man. The tumor was a 1 cm-sized, well circumscribed, oval mass arising from the tunica dartos muscle. Histologically, it was formed by whorling bundles of fusiform cells with occasional atypical, pleomorphic nuclei and pseudo-inclusions. Mitosis was not found. Although morphologically atypical, scrotal bizarre leiomyomas take on a biologic behavior not different from that of conventional leiomyoma, they should be distinguished from leiomyosarcoma to avoid unnecessary treatment.
We report a first Korean case of presumably dominantly inherited primary tubular aggregate myopathy in a 19-yr-old man, who presented with slowly progressive proximal muscle stiffness and weakness. In hematoxylin and eosin stain, it showed subsarcolemmal, or central pale basophilic granular vacuoles, which stained red with modified Gomori's trichrome and intensive blue with nicotinamide adenonine dinucleotide-tetrazolium reductase, respectively. Ultrastructurally, aggregates of 60 nm-sized hexagonal tubules were found in both type 1 and type 2 fibers. We briefly review the pathologic findings of the previously reported cases of tubular aggregate myopathy and discuss the possible pathogenesis of this disease. We briefly discuss the possible pathogenesis of sarcoplasmic reticulum and review the ultrastructural characteristics.
Smooth muscle tumor of the uveal tract is rare, and mostly located in the cilio-choroidal area. We report a unique case of posterior choroidal leiomyoma in a 27-yr-old man. Ophthalmoscopic examination disclosed an 11 mm-sized mass on the fundus two-disc diameters apart from the optic disc. With a suspicion of amelanotic melanoma, the globe was enucleated. The mass occupied the whole thickness of choroidal stroma beneath the pigmented retinal epithelium and composed of spindle cells arranged in intersecting fascicles. Immunohistochemical studies demonstrated immunoreactivities of the tumor cells for smooth muscle actin, desmin, and vimentin. Ultrastructurally, numerous intracytoplasmic filaments with fusiform focal densities, scattered segmental external laminae, subplasmalemmal densities, and pinocytic vesicles were noted. The leiomyoma in this case had several unusual features in that it was confined to the posterior choroid with no relation to the ciliary body, occupied the whole stroma of the choroid instead of suprauveal location, and occurred in a young male. It is important to include choroidal leiomyoma in the differential diagnosis of choroidal tumors.