Measuring complex field waveforms of quadrature amplitude modulation optical signals using a spectrally slicing-and-synthesizing coherent optical spectrum analyzer.

We propose a spectrally slicing-and-synthesizing coherent optical spectrum analyzer to measure complex field waveforms of quadrature amplitude modulation (QAM) optical signals with ultralong periods. The optical spectrum of a measured optical signal is divided into multiple narrowband spectral components, called slices. The slices are sequentially measured using low-speed coherent detection. After phase noise suppression and frequency fluctuation compensation on each slice, the measured slices are synthesized to recover the original signal spectrum. Our numerical and experimental results confirm that the proposed method can overcome the limitation of the measurement bandwidth because the signal spectrum can synthesize more than 100 slices. We experimentally demonstrate complex field measurements of 16QAM optical signals. Our method can measure high-speed optical complex field waveforms with no bandwidth limitation.

Tris(ß-diketonato) Ru(III) complexes as chiral dopants for nematic liquid crystals: the effect of the molecular structure on the helical twisting power.

Doping nematic liquid crystals with optically active compounds transforms them into chiral nematic phases with helical structures. In this phenomenon, the chirality of the dopant molecules is transferred or amplified to the bulk of the liquid crystals. Δ-[Ru(acac)3] (acac = acetylacetonato) is known to work as one of the dopants with a strong helical twisting power (HTP). In this study, we have systematically modified [Ru(acac)3] to clarify the correlation between the molecular structure and HTP; we have designed and synthesized five new Ru(III) complexes, [Ru(acac)2(acacC8)] (RuC8-1, acac = acetylacetonate, acacC8 = 3-(4'-octyloxy-phenylalkynyl)-pentane-2,4-dionato), [Ru(acac)(acacC8)2] (RuC8-2), [Ru(acacC8)3] (RuC8-3), [Ru(acacC0)3] (RuC0-3, acacC0 = 3-(phenylalkynyl)-pentane-2,4-dionato), and [Ru(acacC24)3] (RuC24-3, acacC24 = 3-(3',4',5'-tri(octyloxy)-phenylalkynyl)-pentane-2,4-dionato). All the complexes, except for RuC0-3, could be separated into Δ, Λ isomers by HPLC on a chiral column and were examined as chiral dopants for a nematic liquid crystal, N-(4-methoxybenzilidene)-4-butylaniline (MBBA). The Δ isomers of RuC8-1, RuC8-2, RuC8-3, and RuC24-3 induced a right-handed (P) helix and the magnitudes of the HTPs (/µm(-1)) were determined as follows: RuC8-1 (+60) < RuC8-2 (+109) > RuC8-3 (+78) > RuC24-3 (+41). The HTPs of the ruthenium dopants were not simply proportional to their size. The highest HTP observed in biaxial RuC8-2 was attributed to the balance of the molecular helicity and high ordering in MBBA based on the surface chirality model.

Successful treatment with atezolizumab combination chemotherapy in a patient with high-grade fetal adenocarcinoma of the lung: A case report.

High-grade fetal lung adenocarcinoma (H-FLAC) is a rare tumor, with little known of its response to chemotherapy with or without an immune checkpoint inhibitor or of its molecular profile. We report the first case of a 56-year-old man with stage IV H-FLAC who was successfully treated with carboplatin plus nab-paclitaxel in combination with atezolizumab. In addition, the tumor was found to be positive for amplification of the human epidermal growth factor receptor 2 gene.

[The Efficacy of CT angiography using the IVR-CT/angio system for surgical treatment of spinal hemangioblastoma].

We performed 3D-CT angiography (3D-CTA) with contrast injection to a feeding artery through a selectively introduced catheter into the intercostal artery in a patient with spinal hemangioblastoma. It revealed a relative three-dimensional (3D) anatomy between a tumor body, feeding arteries, draining veins, and surrounding vertebrae with superior resolution to 3D-CTA with intravenous contrast injection. This observation was used for preoperative planning facilitating tumor removal, through reconstructed 3D fly-through animation providing intraoperative identification and obliteration of feeding arteries. This examination was carried out without difficulty by utilizing IVR-CT/angio system (IVR: interventional radiology) which combines angiographic and CT equipment with a single fluoroscopy table, because it does not require a room-to-room transfer of the patient with the catheter left cannulated. DSA detection for any spinal lesions, neoplastic or vascular ones, is always better assisted by 3D-CTA with the IVR-CT/angio system (IVR-CTA).

[Recognition for variable information in scenes].

Visual scenes in daily life involve much variable information. This study examined how three types of variable information (viewing field, brightness, and chromaticity of flood-light illumination) would be retained in memory by varying the level of the information. In Experiment 1, discrimination performance between the test scene and its variation was measured using the constant stimuli method. The results showed worse performance with longer retention time, with no difference related to the type of variation. In Experiment 2, the stimulus variations were made four times greater. In a recognition memory task, participants discriminated between the test scene, its variation, and a new distracter. The results showed that discrimination between the test scene and its variation was worse, but the distracters were easily discriminated. Variations in the viewing field had the most detrimental effect on discrimination performance. These results suggest that the retention of variable information is affected by the frequency of daily experience.

Development of a Pediatric Dermatology Screening Tool Based on Two Parent-Reported Skin Symptoms: Comparison of Parental Recognition and Physician Diagnosis of Skin Symptoms of Infants and Toddlers.

AIM: The objective of the present study was to develop a tool for mothers to assess their children's skin condition with the ultimate goal of its wider use in general health checkups for infants and toddlers. METHODS: This was a single-institution, cross-sectional study in Japan, targeting parents of 200 infants and toddlers who visited a dermatology clinic between December 2018 and March 2019. The parents completed a self-administered survey of the mother's perception of her child's dermatological symptoms, itchiness, and sleep status, and a quality-oflife assessment, using a nine-question version of the Quality of life in Primary Caregivers of children with Atopic Dermatitis questionnaire (QP9). The attending physician was asked to complete a form about the child's dermatological condition and the treatment prescribed. The severity of the dermatological condition noted by the physician was compared with the combined response to the 3 perception items (dermatological condition, itchiness, and sleep) reported by the parents, in order to identify the optimal cutoff score. RESULTS: Of 200 parent questionnaires distributed, 198 (99% response rate) were returned and analyzed, along with the responses from 198 physician records (100% response rate). The optimal cutoff score was 2/3 for the total score (range 0-6) for 2 items, itchiness and sleep status (sensitivity 73%, specificity 64%). There was a significant difference in QP9 scores between the 2 groups categorized by the cutoff score. CONCLUSIONS: A pediatric dermatological screening tool based on 2 symptoms reported by the parents of children with atopic dermatitis was developed, and its precision and criterion-related validity were confirmed. This simple tool could help parents become better aware of their children's skin condition and allow healthcare workers to provide adequate skin care advice. This practical tool could be widely applicable in primary child care and public health service settings.

Venous Sinus Stenting for Transverse Sinus Stenosis Associated with Leptomeningeal Carcinomatosis in a Patient with Epidermal Growth Factor Receptor-Mutated Lung Cancer: A Case Report.

BACKGROUND Cerebral venous sinus obstruction associated with leptomeningeal carcinomatosis is an extremely rare complication of advanced non-small-cell lung cancer. There is little information available on the efficacy of therapeutic options because of its rarity and extremely poor prognosis. CASE REPORT A 57-year-old man presented with severe headache, vomiting, and visual loss for 1 month. Head magnetic resonance venography (MRV) showed occlusion of the left transverse sinus. Gd-enhanced MRI showed no abnormal enhancement. Lumbar puncture intracranial pressure was higher than 40 cmH2O. Positive cerebrospinal fluid tumor cytology confirmed the diagnosis of leptomeningeal carcinomatosis (LC). The headache was relieved by repeated lumbar punctures, and ventriculo-peritoneal shunt was performed. Cerebral angiography showed severe stenosis of the left transverse sinus without thrombosis, and significant delay of cerebral circulation. The transverse sinus stenosis was judged to be contributing to raised intracranial pressure, and the patient underwent left transverse sinus stent placement. After the procedure, his visual acuity improved, the visual field was enlarged, and his headache could be controlled by medication. Follow-up Gd-enhanced MRI showed dural enhancement and spinal dissemination. Because molecular biology of the surgical specimen showed epidermal growth factor receptor (EGFR)-activating mutations, he was treated with osimertinib for 2 months. He survived for 8 months following the diagnosis of LC and left transverse sinus stenosis. CONCLUSIONS Venous sinus stenting can offer an effective palliative interventional option for symptom relief of severe headache and visual symptoms, even in the end stage of malignancy.

Clinical predictors of transient ischemic attack, stroke, or death within 30 days of carotid artery stent placement with distal balloon protection.

PURPOSE: Carotid artery stent placement has been accepted as an effective alternative to carotid endarterectomy (CEA), especially in patients at high risk in the setting of CEA. The purpose of this study was to determine potential clinical risk factors for the development of postprocedural neurologic deficits after carotid artery stent placement. MATERIALS AND METHODS: The clinical characteristics of 58 patients (49 men, nine women; 41 at high risk with CEA, 17 at low risk; median age, 70 years) who underwent carotid artery stent placement with distal balloon protection for 65 hemispheres/arteries (31 asymptomatic lesions and 34 symptomatic lesions) and the combined 30-day complication rates (transient ischemic attack [TIA], minor stroke, major stroke, or death) were analyzed. RESULTS: Six patients (9.0%) experienced a TIA and one patient (1.5%) had a major stroke (1.5%) within 30 days of the procedure. There were no deaths, so the overall 30-day combined stroke and death rate was 1.5%. The chi(2) test revealed that advanced age (>75 years) was a significant clinical predictor of 30-day combined neurologic complications and major adverse effects (P < .01). In addition, a symptomatic lesion was marginally associated with the 30-day incidence of neurologic ischemia on the ipsilateral side (P = .049). CONCLUSIONS: Our data suggest that carotid artery stent placement with distal balloon protection can be performed with similar periprocedural complication rates as CEA. CEA should be the first-line treatment in the management of patients older than 75 years of age.

Endovascular treatment of acute ischaemic stroke in octogenarians and nonagenarians compared with younger patients.

Purpose: Endovascular therapy for emergent large vessel occlusion has been established as the standard approach for acute ischaemic stroke. However, the effectiveness and safety of endovascular therapy in the very elderly population has not been proved. Objective: To determine the safety and effectiveness of endovascular therapy in octogenarians and nonagenarians. Methods: We retrospectively reviewed all patients who underwent endovascular therapy at two stroke centres between April 2012 and July 2018. Functional outcome was assessed using the modified Rankin scale at 90 days after stroke or at discharge. A favourable outcome was defined as a modified Rankin scale score of 0-2 or not worsening of the modified Rankin scale score before stroke. Outcome was compared between younger patients (aged 46-79 years, n = 40) and octogenarians and nonagenarians (aged 80-97 years, n = 19). Results: Octogenarian and nonagenarian patients had pre-stroke functional deficit (modified Rankin scale score >1) more frequently than younger patients (57.9% vs. 20.0%, respectively, P = 0.0059). No difference was observed between very elderly and younger patients in the rate of successful reperfusion (89.5% vs. 67.5%, respectively, P = 0.11), favourable functional outcome (47.4% vs. 45.0%, respectively, P = 1.00) and mortality (21.1% vs. 27.5%, respectively, P = 1.00). On multiple regression analysis, successful reperfusion, concomitant use of intravenous thrombolysis, and out-of-hospital onset were independent predictors of favourable outcome (P = 0.0003, 0.015 and 0.028, respectively). Conclusions: Successful reperfusion, concomitant use of intravenous thrombolysis, and out-of-hospital onset were clinical predictors of favourable outcome. However, we did not observe an age-dependent effect of clinical outcome after endovascular therapy.

Postoperative ischemic events in patients undergoing carotid artery stenting using algorithmic selection for embolic protection.

PURPOSE: Carotid artery stenting (CAS) is a valuable alternative to carotid endarterectomy, especially in high-risk patients. However, the reported incidences of perioperative stroke and death remain higher than for carotid endarterectomy, even when using embolic protection devices (EPDs) during CAS. Our purpose was to evaluate 30-day major adverse events after CAS when selecting the most appropriate EPD. METHODS: We reviewed the clinical outcomes of 61 patients with 64 lesions who underwent CAS with EPDs. Patients who underwent CAS associated with thrombectomy and who had a preoperative modified Rankin scale score >3 were excluded from the analysis. The EPD was selected based on symptoms, carotid wall magnetic resonance imaging and lesion length, and we analyzed combined 30-day complication rates (transient ischemic attack, minor stroke, major stroke or death). RESULTS: Forty-nine patients were men and 12 were women. The median age was 72 years (range: 59-89 years) and 44 lesions were asymptomatic. A filter-type EPD was selected in 23 procedures, distal-balloon protection in 14 procedures and proximal-occlusive protection in 27 procedures. Two patients (3.1%) experienced a transient ischemic attack and one patient (1.6%) had a minor stroke within 30 days of the procedure. No patients experienced procedure-related morbidities (modified Rankin score >2) or death. CONCLUSIONS: The perioperative stoke rate was low when we selected a proximal-occlusive-type EPD in high-risk patients with vulnerable carotid artery disease. Our algorithm for EPD selection was an effective tool in the perioperative management of carotid artery stenosis.

[An autopsy case after endovascular thrombectomy for cardioembolic stroke due to nonbacterial thrombotic endocarditis].

A 73-year-old women visited emergency department because of sudden right hemiplegia. She had a history of duodenum papilla cancer terminal stage and multiple liver metastasis. On admission, diffusion weighted images revealed high intensity area at left middle cerebral artery territory. In addition, 3D-TOF MRA depicted proximal part of the left internal carotid artery. We performed endovascular thrombectomy because low platelet count met contraindication of intravenous recombinant tissue plasminogen activator therapy. Although we could get partial recanalization of middle cerebral artery occlusion after thrombectomy, the patient eventually died due to multiple organ failure. Autopsy findings showed white thrombus on mitral valve and also left middle cerebral artery occluded by similar white thrombus without infective findings. The patient was finally diagnosed with nonbacterial thrombotic endocarditis due to white thrombus on the mitral valve. We should select appropriate mechanical thrombectomy devices with a case of cerebral infarction due to nonbacterial thrombotic endocarditis because its thrombus is often white thrombus and would be hard.

Remarkable effects of cabergoline in a patient with huge prolactinoma resistant to high-dose bromocriptine: case report.

BACKGROUND: Cabergoline (CAB) has been proposed as the first-line treatment in the management of prolactin (PRL)-secreting tumors (prolactinoma [PRLoma]), including those resistant to standard dopamine agonist (DAA) therapy. The authors report remarkable effects of CAB in a case of huge PRLoma that had been resistant to a long-term, high-dose treatment with bromocriptine (BRC). CASE DESCRIPTION: A 28-year-old man was originally presented with oculomotor paresis when he was 9 years old. After 2 partial resections, he was treated with a maximum 60-mg/d dose of BRC for 18 years. Nonetheless, the tumor grew up to more than 8 cm in diameter, serum PRL increased over 60000 ng/mL, and his visual acuity deteriorated. Cabergoline normalized serum PRL level, shrank the tumor mass remarkably, and caused marked improvement of visual acuity. CONCLUSION: Prolactin normalization and significant tumor shrinkage could be achieved with CAB even in extremely BRC-resistant PRLomas. Surgical resection should be reserved only for patients who are resistant to cabergoline or who require urgent decompression in such emergency as massive intratumoral hemorrhage.

Repeated Short-Term Recurrence of Chronic Subdural Hematoma Associated with Metastasis to Hematoma Capsule Originating from Extracranial Malignant Tumor.

BACKGROUND: The recurrence rate of chronic subdural hematoma (CSDH) after trepanation is relatively high and involves various factors. We encountered an extremely rare case in which metastasis of an extracranial malignant tumor to the hematoma capsule was thought to be causing short-term repeated recurrences of CSDH. CASE DESCRIPTION: The patient was a 74-year-old man who had undergone bur hole evacuation of left CSDH 7 months earlier and had been receiving chemotherapy for stage IV gastric cancer for the preceding 6 months. He presented with symptoms of right hemiparesis and was diagnosed with left CSDH. Bur hole evacuation was performed twice, but the hematoma enlarged again both times within a short period. A third bur hole evacuation was performed after middle meningeal artery embolization, but the hematoma again enlarged shortly thereafter. Hematoma enlargement was finally suppressed by extracting the hematoma capsule under craniotomy. In histopathologic examinations, hematoxylin-eosin staining showed poorly differentiated adenocarcinoma primarily along the luminal side of the hematoma capsule and immunohistochemical staining showed results identical to findings from the existing gastric cancer. Pathologic results confirmed metastasis of the gastric cancer to the hematoma capsule, and this was considered to be the cause of short-term repeated recurrence of CSDH. CONCLUSIONS: To the best of our knowledge, this is the first report of metastasis to a hematoma capsule originating from an extracranial malignant tumor. The clinical course in the present case suggests metastasis of extracranial malignant tumor to the CSDH capsule as an extremely rare cause of recurrence.

Pazopanib-mediated Long-term Disease Stabilization after Local Recurrence and Distant Metastasis of Primary Intracranial Leiomyosarcoma: A Case Report on the Efficacy of Pazopanib as a Salvage Therapy.

Primary intracranial leiomyosarcoma (LMS) is an extremely rare tumor of the central nervous system. Only sporadic case reports have been published, and therefore data regarding long-term prognosis remain scarce. A 76-year-old woman presented with a right parietal mass, which had grown rapidly in the month prior to admission. Neuroimaging showed a resemblance to intraosseous meningioma. Gross total resection of the tumor was achieved, and histological diagnosis confirmed LMS. Because positron emission tomography (PET) with fluorodeoxyglucose (FDG) just after the resection showed no abnormal uptake, we diagnosed the tumor as primary intracranial LMS. Follow-up PET at 16 months after treatment showed two foci of FDG uptake in the bilateral lungs. Histological diagnosis by surgical resection identified the lesions as lung metastases of LMS. In addition, follow-up head magnetic resonance imaging (MRI) at 31 months showed local recurrence, and we conducted salvage therapy using CyberKnife system (Accuray incorporated) and pazopanib. To date, for 15 months after local recurrence, she is alive with intracranial recurrent disease remained inactive.

Predictors of Cardioembolic Stroke in Japanese Patients with Atrial Fibrillation in the Fushimi AF Registry.

BACKGROUND: Large-scale clinical trials have analyzed risk factors for any ischemic stroke in patients with atrial fibrillation (AF). However, the risk factors for cardioembolic stroke (CES), specifically, have not been reported. To clarify the risk factors for CES and clinically significant cardioembolic infarction, we examined the incidence of CES and larger infarct volume (IV) (> 30 mL) CES, employing the Fushimi AF Registry, a community-based prospective cohort of AF patients in the Fushimi ward, Kyoto, Japan. METHODS: A total of 4,182 Fushimi AF patients were enrolled from March 2011 to December 2014. The risk factors for CES were evaluated using multivariate analysis. RESULTS: Of 4,182 patients enrolled, 3,749 patients were observed for ≥1 year. During the follow-up period (mean duration, 979 ± 7.7 days), 91/3,749 patients experienced a CES (2.43%). Significant risk factors associated with CES were older age (odds ratio [OR], 1.31; 95% confidence interval [CI], 1.01-1.72; p = 0.046), low body weight (OR, 1.30; 95% CI, 1.03-1.65; p = 0.033), sustained AF (OR, 1.67; 95% CI, 1.05-2.71; p = 0.034), and previous stroke or transient ischemic attack (TIA) (OR, 1.94; 95% CI, 1.22-3.06; p = 0.004). Predictors of a large IV were chronic kidney disease (CKD) (OR, 2.08; 95% CI, 1.09-4.05; p = 0.027) and previous stroke/TIA (OR, 2.27; 95% CI, 1.19-4.24; p = 0.011). CONCLUSIONS: In this population-based cohort of Japanese patients with AF, in addition to previous stroke/TIA and older age, sustained AF and low body weight emerged as risk factors for CES, as opposed to any stroke, which may have a different risk profile. Patients with CKD or previous stroke/TIA who developed cardioembolic infarction exhibited more advanced severity. There is a need for direct oral anticoagulants that can be used safely in patients with comorbid AF and CKD.

Endovascular embolization of branch-incorporated cerebral aneurysms.

Objectives The aim of this study was to examine the feasibility, technique, and clinical and angiographic outcomes of endovascular coiling to treat a cerebral aneurysm with a branch incorporated into the aneurysmal wall. Methods From 2012 to 2016, 25 patients with 26 cerebral aneurysms having a branch incorporated into the aneurysm (9 unruptured, 17 ruptured) were treated to prevent rupture or re-bleeding from the sac while preserving the incorporated branch by using single-catheter ( n = 18), balloon-remodeling ( n = 4), stent-assisted coiling ( n = 3), or double-catheter ( n = 1) techniques. Results Endovascular coiling was conducted in 26 procedures without angiographic occlusion of the incorporated branch. Post-embolization angiography revealed near-complete occlusion ( n = 8; 30.7%), neck remnant ( n = 13; 50%), and incomplete occlusion ( n = 5; 19.3%) aneurysms. Thromboembolisms were observed in four (15.4%) patients during or after the procedure. A procedure-related neurological deficit was observed in one (3.8%) patient. When patients with a preictal modified Rankin Scale (mRS) score of 3 presenting with grade 5 subarachnoid hemorrhage were excluded, all patients had favorable outcomes (mRS 0-2). Six (23.1%) recurrent aneurysms were observed during follow-up, five of which were treated endovascularly at 5-22 months without complication. The location of an aneurysm at the ICA-posterior communicating artery associated with the dominant-type posterior communicating artery was significantly associated with recurrence ( p = 0.041). Conclusions Cerebral aneurysms with an incorporated branch were safely treated using conventional endovascular coiling. However, treatment durability was unsatisfactory, especially for dominant-type ICA-posterior communicating artery aneurysms.

Successful endovascular treatment of a dissecting aneurysm of vertebral artery associated with double origin of the posterior inferior cerebellar artery.

BACKGROUND: Double origin of the posterior inferior cerebellar artery (DOPICA) has been rarely reported in the literature, with a reported incidence of 1.45%. In contrast, a high concurrence rate of DOPICA and vertebral artery dissecting aneurysm has been reported. CLINICAL PRESENTATION: A 61-year old woman presented with vomiting and diplopia with preceding headache. Magnetic resonance imaging (MRI) showed fresh infarction of the left lateral medulla and a vertebral artery dissecting aneurysm of the left vertebral artery. The next day, she exhibited transient loss of consciousness and worsening of headache, and MRI depicted subarachnoid hemorrhage. Four-vessel digital subtraction angiography showed a posterior inferior cerebellar artery (PICA) arising both intracranially and extracranially from the left vertebral artery. Although the dissecting lesion involved the V3 and V4 portion, it did not involve an extracranially originating PICA. Internal trapping of the V3 and V4 portion was chosen as the extracranial channel was expected to supply the PICA territory. This procedure was safely performed. CONCLUSION: Early endovascular intervention should be considered in the treatment of dissecting aneurysm of vertebral artery associated with DOPICA for patients with relatively long lesions even in unruptured cases.

Long-term outcome in patients harboring intracranial ependymoma.

OBJECT: The prognostic significance of tumor grade and resection and the efficacy of prophylactic radiation remain controversial in the management of intracranial ependymoma. The outcomes in patients with intracranial ependymoma treated at the Kyoto University Hospital were reviewed retrospectively, and prognostic significance was analyzed. METHODS: Between 1972 and 2002, 29 patients were seen at the authors' institution. Eighteen cases involved a Grade II lesion according to the World Health Organization classification of ependymoma and 11 involved a Grade III lesion. Postoperative radiation was applied in 24 cases and chemotherapy was administered in nine. Overall survival and progression-free survival rates were significantly higher in patients with Grade II ependymoma (p = 0.006 and 0.004, respectively) and in patients who had undergone gross-total resection of the tumor (p = 0.002 and 0.04, respectively). Fourteen patients relapsed from 10 to 120 months (median 39 months) after diagnosis. In nine patients the ependymoma recurred only at the original tumor site. Three patients experienced both local and distant relapse, whereas two others had only a distant relapse. All relapses of the Grade II ependymoma initially occurred at the primary tumor site. Histological grade and extent of resection were significantly associated with tumor dissemination (p = 0.0034 and 0.0011, respectively). The field of postoperative radiation had no impact on patient survival or lesion recurrence. CONCLUSIONS: Tumor grade and resection are the two important prognostic factors with respect to patient survival, tumor recurrence, and tumor dissemination. Considering that relapses were predominantly local and that there was no apparent benefit from prophylactic radiation, the authors concluded that postoperative radiation should be focused on local control, especially for Grade II ependymomas.

Epithelioid sarcoma associated with lung adenocarcinoma.

Epithelioid sarcoma is an uncommon soft tissue malignancy which is often misdiagnosed as necrobiotic granuloma or chronic inflammation. Many patients have local recurrence and distant metastasis because of its infiltrating growth. We report a 49-year-old Japanese man who had an ulcer with surrounding erythema on the left forearm after he sustained a bruise on this spot. His mother and father had died of rectal and bladder carcinoma, respectively, and he had also had a seminoma previously. Therefore, there was familial accumulation of malignancies. A skin biopsy revealed polygonal, plump, or spindle-shaped epithelioid cells and lymphocytes infiltrating through the dermis. Immunohistochemical studies showed positive staining for cytokeratins, epithelial membrane antigen, CD34 and vimentin and negative staining for desmin, CD68, HHF-35, 1A4 and p53. These clinical and histological features were diagnostic of epithelioid sarcoma. CT scans detected nodules in the right lung. A lung biopsy revealed that he had well-differentiated adenocarcinoma which expressed p53. Mutations in the TP53 gene were not searched for. We selected conservative treatment because the patient did not want surgical wide resection or amputation. Therefore, radiation, thermotherapy, application of 0.5% doxorubicin hydrochloride ointment and right lower lobectomy with lymph node dissection were performed. The size of the ulcer and the tumor invasion along the fasciae of muscles were decreased, however, metastasis of the epithelioid sarcoma was detected in the lymph node of the left axilla four years after the diagnosis.

Analysis of gene mutations in three cases of dermatofibrosarcoma protuberans (DFSP): ordinary DFSP, DFSP with fibrosarcomatous lesion (DFSP-FS) and lung metastasis of DFSP-FS.

BACKGROUND: Fusion of the collagen type I alpha 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been pointed out in dermatofibrosarcoma protuberans (DFSP). Various exons of the COL1A1 gene have been shown to be involved in the fusion with exon 2 of the PDGFB gene. OBJECTIVE: We studied the breakpoints of the COL1A1 gene using the tumor specimens from three patients with DFSP. METHODS: Reverse transcriptase-polymerase chain reaction (PCR) was performed using cultured DFSP tumor cells or frozen tissue. Nucleotide sequence analysis was carried out using the PCR products to identify the breakpoints. RESULTS: Cases 1, 2 and 3 were diagnosed as ordinary DFSP, DFSP with fibrosarcomatous lesion (DFSP-FS) and lung metastasis of DFSP-FS, respectively. The COL1A1-PDGFB fusion transcripts were detected from the tumor specimens. Sequence analysis revealed that the ends of exons 42, 29 and 38 in the COL1A1 gene were fused with the start of exon 2 in the PDGFB gene in case 1, 2 and 3, respectively. CONCLUSION: This study identified a novel COL1A1 breakpoint, namely, exon 42 of the COL1A1 gene. Detection of the aberrant fusion transcript seems to be useful at differential diagnosis both in primary and metastatic lesions.