Negative correlation between organ heteroplasmy, particularly hepatic heteroplasmy, and age at death revealed by post-mortem studies of m.3243A > G cases.

Mitochondrial DNA m.3243A > G mutation causes mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and its associated multi-organ disorders, including diabetes. To clarify associations between m.3243A > G organ heteroplasmy and clinical phenotypes, including the age at death, we combined genetic and pathological examinations from seven unreported and 36 literature cases of autopsied subjects. Clinical characteristics of subjects were as follows: male, 13; female, 28; unknown, 2; the age at death, 36.9 ± 20.2 [4-82] years; BMI, 16.0 ± 2.9 [13.0-22.3]; diabetes, N = 21 (49%), diabetes onset age 38.6 ± 14.2 years; deafness, N = 27 (63%); stroke-like episodes (StLEp), N = 25 (58%); congestive heart failure (CHF), N = 15 (35%); CHF onset age, 51.3 ± 14.5 years. Causes of death (N = 32) were as follows: cardiac, N = 13 (41%); infection, N = 8 (25%); StLEp, N = 4 (13%); gastrointestinal, N = 4 (13%); renal, N = 2 (6%); hepatic, N = 1 (2%). High and low heteroplasmies were confirmed in non-regenerative and regenerative organs, respectively. Heteroplasmy of the liver, spleen, leukocytes, and kidney for all subjects was significantly associated with the age at death. Furthermore, the age at death was related to juvenile-onset (any m.3243A > G-related symptoms appeared before 20) and stroke-like episodes. Multiple linear regression analysis with the age at death as an objective variable showed the significant contribution of liver heteroplasty and juvenile-onset to the age at death. m.3243A > G organ heteroplasmy levels, particularly hepatic heteroplasmy, are significantly associated with the age at death in deceased cases.

[Papillary Thyroid Cancer Metastasizing Anterior Mediastinal Lymph Node with Extra-nodal Invasion to the Lung:Report of a Case].

We describe a 79-year-old female with a prior history of two times of mitral valve surgery and pacemaker implantation. She was transferred to our hospital presenting bloody sputum with dyspnea. Chest enhanced computed tomography (CT) showed a large anterior mediastinal mass of 64×52 mm in size. She underwent surgery for the mediastinal tumor through third time median sternotomy approach. As the tumor was suspected of infiltrating to the lung, combined resection of right upper lobe was additionally performed. Histological examination revealed papillary thyroid carcinoma metastasizing anterior mediastinal lymph node with extra-nodal invasion to the lung. After surgery, echography detected primary lesion in the left lobe of thyroid gland, and the patient was finally diagnosed as papillary thyroid cancer metastasizing mediastinal lymph node. Two months later, she underwent total thyroidectomy.

[Resection under Endoscopic Guidance of Papillary Fibroelastoma in the Left Ventricular Outflow Tract:Report of a Case].

A 76-year-old man was admitted to our hospital for a thorough examination of a suspected cardiac tumor on transthoracic echocardiography. Transesophageal echocardiography demonstrated a 9.4×8.1 mm mobile stalk-like mass in the left ventricular outflow tract. A preoperative electrocardiogram revealed paroxysmal atrial fibrillation. Tumor resection and pulmonary vein isolation were performed to prevent embolism and confirm the diagnosis. The tumor was resected using an endoscope because it was difficult to evaluate the tumor under direct view from the aortic valve. Pathological diagnosis was cardiac papillary fibroelastoma. Postoperative echocardiography showed no residual tumor or aortic regurgitation. One year and eight months passed since the surgery, and no recurrence of the tumor was detected. In cases like this one, where direct observation of the tumor is difficult, we suggest that the use of an endoscope may be effective because it has the advantage of sharing information with other surgeons.

[Superior Vena Cava Syndrome due to Large Cell Neuroendocrine Carcinoma Originated in the Mediastinum].

We report a case of a 53-year-old man with superior vena cava( SVC) syndrome due to large cell neuroendocrine carcinoma (LCNEC) in the mediastinum. His chief complaint was general fatigue. On physical examination, both jugular veins were distended and his face and bilateral upper limbs were swollen. Enhanced chest computed tomography (CT) scan demonstrated a heterogenous tumor of approximately 50 mm in diameter in the middle mediastinum, which infiltrated into the SVC and right atrium, and caused SVC syndrome. Since SVC syndrome developed rapidly, the tumor was resected and the occluded SVC was replaced with a ringed polytetrafluoroethylene graft under cardiopulmonary bypass. After surgery, SVC obstruction was resolved with improvement of the initial symptoms. The patient had an uneventful recovery and was discharged from our hospital. The tumor was diagnosed as LCNEC histologically. He received postoperative adjuvant systemic chemotherapy. Unfortunately, he died of extensive brain and bone metastasis 10 months after the operation. However, we believe that surgical relief from SVC syndrome improved quality of the rest of his life.

Characteristics and Management of Ruptured Aneurysms Originating from the Penetrating Artery of the Distal Middle Cerebral Artery.

We report a rare case of an aneurysm originating from the penetrating artery of the distal middle cerebral artery (MCA). A 76-year-old man without a notable past history presented with sudden-onset severe headache, left hemiparesis, and a decreased level of consciousness. Computed tomography (CT) revealed subarachnoid hemorrhage (SAH) with intracerebral hemorrhage (ICH) in the right temporal lobe extending into the ventricle. Contrast-enhanced CT (CE-CT) demonstrated a focus of contrast enhancement (CE) adjacent to the hematoma in the right frontal lobe. An aneurysm fed by a penetrating artery branching off from the right distal MCA was found on angiography. The patient underwent emergency resection of the aneurysm and hematoma evacuation. Histological analysis revealed that arterial dissection may be an associated factor in the pathogenesis of this peripheral aneurysm formation. A focus of CE within or adjacent to the hematoma may be useful for diagnosing this peripheral aneurysm. ICH can result in a life-threatening situation. Therefore, microsurgery may be the first treatment choice for aneurysms in this location.

[A Case of Granulocyte-Colony Stimulating Factor Producing Esophageal Carcinoma].

The patient was a 42-year-old man who presented with dysphagia.Upper gastrointestinal endoscopy revealed a protruding lesion in the lower thoracic esophagus.Pathological analysis of the lesion showed squamous cell carcinoma.Laboratory data showed leukocytosis(21,200/mL)despite no evidence of infection, and the serum levels of granulocyte colony-stimu- lating factor(G-CSF)were elevated to 283 pg/mL.We diagnosed him with esophageal squamous cell carcinoma(Lt, type 1, cT4N4M0, cStage IV a).After administering 2 courses of docetaxel plus cisplatin plus S-1(DCS)as neoadjuvant chemotherapy, the patient underwent surgery.The pathological diagnosis was pType 2, T2, N4, M0, pStage IV a. G-CSF immunostaining was positive in tumor cells.After the surgery, the number of leukocytes and serum G-CSF levels decreased to within normal limits.Adjuvant chemotherapy was administered.

[PRIMARY LOCALIZED AL AMYLOIDOSIS OF THE BLADDER MIMICKING RECURRENCE OF BLADDER CARCINOMA].

Primary bladder amyloidosis is a rare disease, with approximately 200 cases documented in the literature. We herein present a 85-year-old Japanese man who has undergone a transurethral resection of a bladder tumor (TURBT) and has regularly been followed up after surgery. Since cystoscopy revealed mucosal irregularity, he has got a TURBT again for a suspicion of recurrence. There were no malignant findings in pathological diagnosis and we diagnosed as amyloidosis because it showed positive by Congo-red staining. We added immunohistological diagnosis to diagnose as localized AL amyloidosis of the bladder finally.

Pseudoaneurysm at M3 of the middle cerebral artery: Morphological changes on serial radiological examinations.

A 20-year-old man presented with consciousness disturbance and hemiparesis, and computed tomography demonstrated subarachnoid and intracerebral hemorrhage. Angiography on admission demonstrated a slight irregularity of the middle cerebral artery (MCA) branch. Angiography on the 12th day showed a suspicious lesion at M3 of the left MCA. Angiography performed 24 days after the onset disclosed an aneurysm at M3. The aneurysm was trapped and resected after superficial temporal artery-MCA bypass. Pathological examinations revealed that this distal aneurysm was a pseudoaneurysm without vascular components in its dome. Although a lesion that may cause subarachnoid or intracerebral hemorrhage was not detected on the initial angiography, repeated examinations revealed the atypical vascular lesion in distal MCA.

Superficial Temporal Artery-Middle Cerebral Artery Bypass Using a Thick STA after Endarterectomy: A Rescue Technique.

Background and Objective Superficial temporal artery (STA)-middle cerebral artery (MCA) bypass is a procedure to reconstruct cerebral blood flow in the MCA territory. In some cases, the STA wall is thickened and the size discrepancy between STA and MCA is apparent. In such a situation, STA-MCA bypass is challenging. We present two patients who underwent STA-MCA bypass using STA in which a thickened intima was removed. We discuss the usefulness of this rescue technique. Patients and Results A patient with an atherosclerotic MCA occlusion and another with an occluded internal carotid artery are included. Endarterectomy of STA was performed before or during anastomosis, and the intima-resected STA was anastomosed to MCA. In both cases, the STA was thick and hard, and it was difficult to anastomose the STA as it was to the MCA. Patency of the bypass was confirmed by postoperative angiography. Conclusion Endarterectomy of a thickened STA might be an effective rescue technique in cases with severely atherosclerotic STA in STA-MCA bypass.

Pseudoaneurysm formation due to rupture of intracranial aneurysms: Case series and literature review.

Background Intracranial pseudoaneurysm formation due to a ruptured non-traumatic aneurysm is extremely rare. We describe the radiological findings and management of pseudoaneurysms due to ruptured cerebral aneurysms in our case series and previously reported cases. Patients and methods Four additional and 20 reported patients presenting with subarachnoid hemorrhage (SAH) are included. Radiological findings and clinical features of these patients were reviewed. Results In our series, three-dimensional computed tomographic angiography (3D-CTA) and/or angiography showed an irregular- or snowman-shaped cavity extending from the parent artery. The radiological examination additionally revealed delayed filling and retention of contrast medium. These findings were the same as previously reported cases. One patient underwent direct clipping of the true aneurysm. For the other three patients with aneurysms at the basilar and anterior communicating arteries, the true portion of the aneurysm was embolized with platinum coils. During the procedures, care was taken not to insert the coils into the distal pseudoaneurysm portion to prevent rupture. The review of 24 cases revealed that the location of the aneurysms was most frequent in the anterior communicating artery (41.7%), and 86.7% of patients were in a severe stage of SAH (>Grade 3 in WFNS or Hunt & Kosnik grading) implying abundant SAH. Conclusions Pseudoaneurysm formation in SAH after non-traumatic aneurysm rupture is rare. However, in cases with an irregular-shaped aneurysm cavity, pseudoaneurysm formation should be taken into consideration.

[Two Cases of Gastric Endocrine Cell Carcinoma].

The first patient was a man in his eighties who visited our department because of anemia. Gastrofiberscopy revealed a bleeding submucosal tumor, approximately 50mm in diameter, in the cardia ofthe stomach. Considering that he underwent coronary-artery bypass surgery and received 3 oral antithrombotic medicines, his bleeding tendency was so high that we decided to choose partial gastrectomy. A postoperative histopathological examination revealed that the tumor was a small cell endocrine carcinoma. The second patient was a woman in her seventies. She had consulted her personal physician because of gastric ulcers; periodic gastrofiberscopy revealed a type 3 gastric cancer, approximately 40mm in diameter, on the posterior wall ofthe middle section ofher stomach. It was histologically diagnosed as a poorly differentiated neuroendocrine carcinoma. On a preoperative blood examination, the levels ofhormones such as glucagon, serotonin, and gastrin were within their respective normal limits. Total gastrectomy was performed, and she received oral S-1 for adjuvant chemotherapy since her discharge from the hospital.

Intraparenchymal hemorrhage from dural metastasis of breast cancer mimicking meningioma.

Intraparenchymal hemorrhage from dural metastasis of breast cancer is rare. A 54-year-old woman without a significant medical history showed altered consciousness and left hemiparesis. Radiological examination revealed an extra-axial mass in the right middle fossa with intraparenchymal hemorrhage and another mass invading the skull in the right parietal region. The pre-operative diagnosis was a sphenoid ridge meningioma presenting with intraparenchymal hemorrhage and another meningioma in the convexity. The tumors and hematoma were removed. Pathological findings of the tumors were compatible with adenocarcinoma. Systemic examination revealed breast cancer with metastasis to the spine. Although the radiological findings were similar to those of meningioma, a differential diagnosis of metastatic brain tumor with intraparenchymal hemorrhage should be taken into consideration.

Subarachnoid and intracerebral hemorrhage from intracranial hemangiopericytoma: An uncommon cause of intracranial hemorrhage.

BACKGROUND: Hemorrhage from an intracranial tumor is well known but uncommon. In cases of subarachnoid hemorrhage, aneurysm rupture is a main cause. CASE DESCRIPTION: A 64-year-old woman presented with sudden-onset motor aphasia. Computed tomography revealed subarachnoid hemorrhage, and intracerebral hemorrhage in the left temporal lobe. From the findings of pre-enhancement computed tomography, hemorrhage from a left middle cerebral artery aneurysm was initially suspected. Further radiological examinations demonstrated an enhanced mass with dural attachment in the left temporal region, but no vascular abnormality. Emergency craniotomy was performed, and the tumor and intracerebral hematoma were removed. The hemorrhage from fragile tumor vessels may destroy the tumor tissue and spread into the temporal lobe and subarachnoid space. Pathological examination of the tumor yielded findings consistent with hemangiopericytoma. Post-operatively, the patient was treated to prevent vasospasm. CONCLUSION: Although an intracranial tumor including hemangiopericytoma uncommonly causes subarachnoid hemorrhage, it should be taken into consideration as a source of intracranial hemorrhage.

Pseudoaneurysm Formation in Intracerebral Hematoma due to Ruptured Middle Cerebral Artery Aneurysm.

We report the case of a ruptured middle cerebral artery aneurysm that showed pseudoaneurysm formation in an intracerebral hematoma. A 61-year-old man who was taking warfarin complained of dysarthria. Three days later, he was found unconscious, and computed tomography on admission showed subarachnoid hemorrhage and an intracerebral hematoma in the left temporal lobe. Three-dimensional computed tomographic angiography showed an irregular-shaped aneurysm-like cavity extending from the left middle cerebral artery into the hematoma. Intraoperative observation revealed that the aneurysm itself was small and the lesion observed on computed tomography was a pseudoaneurysm that had formed in the hematoma. Pathologic examination of the aneurysm demonstrated that there was a thrombus at its tip. In this report, radiologic characteristics of three-dimensional computed tomographic angiography and etiology of a pseudoaneurysm in an intracerebral hematoma due to aneurysm rupture are discussed.

A chronic intracerebral fluid hematoma.

Intracerebral hematoma usually resolves and a chronic fluid hematoma is rare. We describe a rare case of intracerebral fluid hematoma. This report describes a case of intracerebral fluid hematoma mimicking a brain tumor and discusses the characteristics of this condition. A 70-year-old woman had a six-month history of memory disturbance. Computed tomography scan showed a low-density lesion with a partial high-density area in the right frontal lobe. MRI revealed a lesion of the main cystic portion showing high intensity on both T1 and T2 weighted images with a low-intensity solid portion in the anteromedial side. The lesion was adjacent to the lateral ventricle. Craniotomy was carried out and the lesion was removed. Pathological examination of the solid portion revealed that the diagnosis was reactive changes due to intracerebral hemorrhage. In our case, there was a possibility that the hematoma was diluted with cerebrospinal fluid, and coagulation might have been prevented.

Immunohistochemical detection of fibroblast growth factor receptor 3 in human breast cancer: correlation with clinicopathological/molecular parameters and prognosis.

OBJECTIVE: Reportedly, fibroblast growth factor receptor 3 (FGFR3) that regulates embryonic growth and development may function as an oncoprotein in certain malignancies. We aimed to investigate the biological significance of FGFR3 expression in invasive breast cancer. METHODS: FGFR3 expression was investigated in 50 invasive breast cancer specimens by immunohistochemistry. The association between FGFR3 expression and clinicopathological/molecular parameters or prognosis was evaluated. RESULTS: Weak FGFR3 expression was observed in myoepithelial cells, but not in duct epithelial cells, of the normal mammary ducts and lobules. FGFR3 expression in breast cancer cells was observed in 19 of 50 (38.0%) cases (9 weak positive and 10 strong positive). Besides the cytoplasm and cell membrane, nuclear staining was observed in 3 of 10 strong-positive cases. FGFR3 was further detected in non-neoplastic duct epithelial cells or duct papillomatosis in 5 strong-positive cases. No significant correlation was observed between FGFR3 expression and specific clinicopathological/molecular parameters. In contrast, FGFR3 expression was found to be significantly associated with overall survival in our cohort. CONCLUSIONS: FGFR3 expression in invasive breast cancer was not found to be significantly associated with specific clinicopathological/molecular parameters, but might be used as a candidate marker for a poor prognosis.

Two successful curative operations using stomach-preserving distal pancreatectomy with celiac axis resection for the treatment of locally advanced pancreatic body cancer.

Large vessel invasion is a serious factor determining whether an operation for pancreatic body cancer is feasible. The Appleby operation is a radical operation for the treatment of pancreatic body cancer that has infiltrated the celiac axis. Since this procedure includes a total gastrectomy, the operation is associated with a high morbidity, mortality, and deteriorating postoperative quality of life (QOL). We experienced two cases in which radical operations consisting of a stomach-preserving distal pancreatectomy with en bloc resection of the celiac, common hepatic, and left gastric artery were performed. The use of adjuvant chemotherapy in these cases led to a good postoperative QOL.

Metastatic chest wall tumor suspected to be of lung origin by immunoreactivity for cytokeratin 7 and 20.

We report a rare case of unknown primary carcinoma. A 36-year-old man was admitted to the hospital because of a chest wall tumor. Serum carcinoembryonic antigen level was 160 ng/ml. The resected chest wall tumor was pathologically diagnosed as metastatic adenocarcinoma, showing positive immunoreactivity for cytokeratin 7 and negative immunoreactivity for cytokeratin 20, suggesting lung origin. Serum carcinoembryonic antigen level returned to normal limits. Twenty-one months later, a chest X-ray showed a nodular lesion in the left upper lobe and serum carcinoembryonic antigen level increased to 12.3 ng/ml. Left upper lobectomy was performed 23 months after chest wall resection. The resected tumor was pathologically diagnosed as primary lung adenocarcinoma, showing the same immunoreactivity as in the chest wall tumor. The combination of immunohistochemistry for cytokeratin 7 and 20 appeared to be a useful tool in determining the site of origin and helpful for premortem diagnosis of the origin of unknown primary carcinoma.