Some skin adnexal tumors display both epithelial and myoepithelial cell populations and can be broadly categorized as biphasic tumors. These include apocrine hidrocystoma, mixed tumor, ...adenomyoepithelioma (AME), and adenoid cystic carcinoma (ACC). Myoepithelioma is the myoepithelial cell‐predominant type in this category. Cutaneous AME is exceedingly rare and usually has a benign prognosis, but it is considered to have the potential for local recurrence and metastasis. We report the case of a 57‐year‐old man with a 1‐year history of an ulcerated nodule on his scalp. Microscopically, it was a defined cutaneous nodule with a focal lobulated architecture, composed of epithelial cells forming ducts and myoepithelial cells distributed around the ducts. In addition to these findings of typical AME, the present case focally revealed atypical features, such as increased mitotic activity (7/10 high power fields), invasive growth, and necrosis. However, cytological atypia was not significant. We conclusively diagnosed cutaneous AME with atypical features, suggesting malignant potential. Moreover, areas showing appearances similar to apocrine hidrocystoma, mixed tumor, myoepithelioma, and ACC were focally observed. We present a unique case of cutaneous AME exhibiting histopathological heterogeneity. The recognition of morphological variation could be helpful in appropriately diagnosing and treating AME of the skin.
Becker muscular dystrophy (BMD) is an X-linked neuromuscular disease characterized by progressive muscle weakness that currently has no cure. Immune-mediated necrotizing myopathy (IMNM) is a type of ...autoimmune inflammatory myopathy characterized by proximal muscle weakness that is treated with immunosuppressive therapy. We herein report a patient diagnosed with BMD complicated with IMNM by a pathological analysis. Notably, the patient had an elevated serum anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody level. Oral glucocorticoid and methotrexate treatment partially improved the muscle weakness with decreased levels of serum creatine kinase. An accurate diagnosis is important for therapeutic decisions in these complicated cases.
Muscle phosphorylase b kinase (PHK) deficiency is a rare mild metabolic disorder caused by mutations of the PHKA1 gene encoding the αM subunit of PHK. A 16-year-old boy experienced myalgia during the ...maximal multistage 20-m shuttle run test targeting the maximal oxygen consumption. Although an ischemic forearm exercise test was normal, a muscle biopsy revealed subsarcolemmal glycogen accumulation. He harbored a novel insertion mutation in the PHKA1 gene that resulted in premature termination of the αM subunit close to the C-terminus. Compared with previously reported cases, his reduction in PHK activity was relatively mild.
Patients with transthyretin (TTR)‐type familial amyloid polyneuropathy (FAP) typically exhibit sensory dominant polyneuropathy and autonomic neuropathy. However, the molecular pathogenesis of the ...neuropathy remains unclear. In this study, we characterize the features of FAP TTR the substitution of lysine for glutamic acid at position 61 (E61K). This FAP was late‐onset, with sensory dominant polyneuropathy, autonomic neuropathy, and cardiac amyloidosis. Interestingly, no amyloid deposits were found in the endoneurium of the four nerve specimens examined. Therefore, we examined the amyloidogenic properties of E61K TTR in vitro. Recombinant wild‐type TTR, the substitution of methionine for valine at position 30 (V30M) TTR, and E61K TTR proteins were incubated at 37°C for 72 hr, and amyloid fibril formation was assessed using the thioflavin‐T binding assay. Amyloid fibril formation by E61K TTR was less than that by V30M TTR, and similar to that by wild‐type TTR. E61K TTR did not have an inhibitory effect on neurite outgrowth from adult rat dorsal root ganglion (DRG) neurons, but V30M TTR did. Furthermore, we studied the sural nerve of our patient by terminal deoxynucleotidyl transferase dUTP nick end labeling and electron microscopy. A number of apoptotic cells were observed in the endoneurium of the nerve by transferase dUTP nick end labeling. Chromatin condensation was confirmed in the nucleus of non‐myelinating Schwann cells by electron microscopy. These findings suggest that E61K TTR is low amyloidogenic, in vitro and in vivo. However, TTR aggregates and amyloid fibrils in the DRG may cause sensory impairments in FAP because the DRG has no blood–nerve barrier. Moreover, Schwann cell apoptosis may contribute to the neurodegeneration.
Transthyretin (TTR)‐type familial amyloid polyneuropathy (FAP) typically exhibits sensory–dominant polyneuropathy and autonomic neuropathy. However, the molecular pathogenesis of the neuropathy remains unclear. In this study, we characterize the features of FAP TTR E61K. Our findings suggest that E61K TTR is low amyloidogenic in vitro and in vivo. However, TTR aggregates and amyloid fibrils in the DRG may cause sensory impairments in FAP because the DRG has no blood–nerve barrier. In addition, Schwann cell apoptosis was observed in the nerve, and may contribute to the neurodegeneration.
BNCT is a type of particle beam radiation therapy that utilizes an α particle and 7Li nucleus generated when a thermal neutron is captured by a 10B nucleus involved in the boron compound that has ...been taken up into tumor tissue selectively. In this report, the relevance of N/C ratio of tumor cell and anti-tumor effect for BNCT clinical cases of head and neck cancer were verified. Examination of pre-irradiated tumor histopathological specimens of 9 BNCT treated head and neck cancer patients (4 CR patients, 5 non-CR patients) was performed. The statistically significant difference between the CR group and the non-CR group was examined for the physical dose was multiplied by the absolute biological effectiveness (ABE) value determined from the patient's tumor specific N/C ratio. Analysis showed the mean tumor dose could not distinguish between CR and non-CR groups. However, the ABE dose could clearly distinguish between the CR group and the non-CR group (p = 0.0250). The N/C ratio of tumor cell can influence the anti-tumor effect of BNCT for HNC.
1.This study is relevance of N/C ratio and anti-tumor effect for BNCT.2.9 patients (4 CR patients, 5 non-CR patients) in our institution who underwent BNCT were analyzed.3.The statistically significant difference between the CR and the non-CR was examined for ABE dose.4.The ABE dose could clearly distinguish between the CR group and the non-CR group (p = 0.0250).5.The ABE dose can influence the anti-tumor effect of BNCT for HNC.
Restricted lower limb vasculitis is a type of localized muscle vasculitis limited to the lower limbs. The usefulness of fluorodeoxyglucose-positron emission tomography (FDG-PET) for the diagnosis of ...this entity has not yet been reported. We herein report three patients with a fever and persistent lower limb pain. FDG-PET revealed linear and patchy FDG uptakes in their lower limbs. Combined with magnetic resonance imaging and histological findings, they were diagnosed with lower limb vasculitis. Linear and patchy FDG uptakes are considered to reflect the presence of muscle vasculitis. The characteristic "ant-farm"-like FDG-PET images can be a diagnostic clue for the currently overlooked vasculitis.
Metastatic breast cancer in the bone rarely has a cystic appearance, and while it is common in the orbit, its metastasis to the orbitotemporal skull is rare. Consequently, it is difficult to diagnose ...it. We report and discuss a rare case of metastatic breast cancer with simple cyst appearance in the orbitotemporal region of the skull.
A 63-year-old woman presented with mild double vision only on left gaze that lasted for 2 months. Ten and a half years ago, the patient underwent surgery for tumor resection of a stage 3 breast adenocarcinoma, followed by radiotherapy and administration of anticancer therapy. Thereafter, she continued hormonal therapy with antiestrogen drugs, which was discontinued a half year ago because there was no recurrence during treatment. On admission, magnetic resonance imaging (MRI) showed a single and simple cystic lesion in the orbitotemporal region of the skull. The cyst was filled with fluid of different intensity, indicative of a hemorrhagic component. Additional gadolinium-contrasted MRI showed no enhancing effects in the lesion. The cyst was totally removed by surgery, and the histologic examination confirmed the diagnosis of breast adenocarcinoma. Intensity-modulated radiotherapy was then administered, and the patient started follow-up hormonal therapy with antiestrogen agents. No recurrence in the orbitotemporal region of the skull occurred during 6 months after the surgery.
Metastatic breast cancer should be considered in the differential diagnosis even if it appears as a simple cyst in the orbitotemporal bone after long-term remission.
Familial amyloid polyneuropathy (FAP) is an autosomal dominant hereditary systemic amyloidosis caused by mutation of the transthyretin (TTR) gene, and usually shows sensory-dominant polyneuropathy ...and autonomic neuropathy at the initial stage. The pathogenesis of this neuropathy remains unknown, although several mechanisms, including mechanical compression, vessel occlusion, TTR toxicity and Schwann cell dysfunction have been proposed. We describe a patient with late-onset FAP caused by a TTR E61K mutation. Amyloid deposits were not detected in the endoneurium or perineurium of the sural nerve 7years after the onset of the disease, but a marked loss of nerve fibers was observed in the sural nerve. TTR-derived amyloid deposits were confirmed in the peroneus brevis muscle, salivary gland and heart tissue. DNA analysis revealed a heterozygous mutation in TTR. These findings suggest that proximal parts of the peripheral nervous system might be strongly affected by TTR aggregates or amyloid fibrils, and that the blood-nerve barrier in distal parts of peripheral nerves are initially preserved in this patient. This case indicates that several biopsy sites other than nerves may be helpful and necessary for the diagnosis of TTR amyloidosis in mild or late-onset FAP.
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•We present a patient with late-onset FAP caused by a TTR E61K mutation.•Amyloid deposits were not detected in sural nerve endoneurium or perineurium.•The proximal parts of the peripheral nervous system might be strongly affected.
Twin‐twin transfusion syndrome (TTTS) complicates approximately 10% of monochorionic twin pregnancies and is associated with almost 90% mortality if left untreated. Fetoscopic laser photocoagulation ...(FLP) is the first‐line therapy for TTTS, and an overall twin survival rate of 75% and at least one survival rate of 90% have been established. We report a case of TTTS complicated with bleeding from the uterine wall by inserting the procedure after FLP. The patient consequently underwent emergency caesarean section. The bleeding was uncontrollable due to atonic bleeding and emergency hysterectomy was performed. To detect the possibility of amniotic fluid embolism (AFE), biochemical blood samples demonstrated that there was no inflow of fetal ingredients in blood vessels of uterine tissue. There was no evidence of damage to any specific vessels by histopathological staining. These findings indicated that the cause of massive bleeding was unlikely to have been AFE. It was concluded that atonic bleeding was likely caused by uncontrollable hemorrhage from an injury lesion where an endoscope had been inserted.
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