Katsuaki Miki

An autopsy case of pseudoxanthoma elasticum: histochemical characteristics.

An autopsy case of pseudoxanthoma elasticum is reported. A Japanese female patient complained of yellow papules on the neck, precordium, and axilla, beginning at 54 years of age. When the patient was 58 years old, in response to her visual disturbance a funduscopic examination was performed, revealing angioid streaks, and skin biopsy identified a characteristic pseudoxanthoma elasticum (PXE) lesion. The patient developed congestive heart failure, and following mitral valve prolapse and regurgitation flow into the left atrium, mitral valve replacement with a prosthetic valve was performed when the patient was 65 years old. Soon afterward, the patient complained of gait disturbance, and she died of congestive heart failure at 68 years of age. Autopsy specimen revealed fragmented, granular, and calcified elastic fibers in the middle to deep dermis and in the thickened subendocardium, and small to medium-sized muscular arteries revealed fragmented, laminated, and calcified elastic lamina; vascular changes were seen in the heart, lung, kidney, gastrointestinal tract, and iliac artery. Disrupted elastic fibers were visualized using the Weigert resorcin fuchsin method and were stained positive by antielastin and antifibronectin antibodies. Calcification was confirmed by von Kossa staining. Affected areas were PAS-positive after diastase digestion, indicating the presence of glycoprotein. Affected areas were colloidal iron-positive, indicating the presence of proteoglycan matrix.

Autopsy case of desminopathy involving skeletal and cardiac muscle

Desminopathy is a familial or sporadic skeletal and cardiac muscular dystrophy caused by mutation in the desmin gene. Desmin‐reactive deposits in the affected muscles are the morphological hallmarks of this disease. Herein is reported an autopsy case of a 57‐year‐old Japanese man with adult‐onset skeletal muscle weakness and atrioventricular (A‐V) conducting block, with a missense A337P mutation in exon 5 of the desmin gene. Disease onset occurred when the patient was 45 years old. The initial presentation was lower limb weakness, and the weakness progressed to the upper limbs. When the patient was 51 years old, a cardiac pacemaker was implanted due to complete A‐V block. When the patient was 53 years old, respiratory insufficiency occurred due to weakness of respiratory muscles, and the patient died at the age of 57 years. On autopsy, intrasarcoplasmic desmin‐immunoreactive deposits were identified in the skeletal and cardiac muscle, and abnormal accumulations of granulofilamentous material were identified at the ultrastructural level. In the cardiac conducting system, calcification was observed at the bundle of His, and sporadic calcium deposits were observed at the left and right bundle branches.

An autopsy case of primary mixed choriocarcinoma and mature teratoma located in the thymic region associated with elevated human chorionic gonadotropin levels and characteristic testicular changes

An autopsy case of a 19-year-old male Japanese student with a primary mixed choriocarcinoma and mature teratoma in the thymic region is reported. The patient died 7 days after he first noticed fever and dyspnea. On autopsy, an anterior mediastinal mass was found to be in contact with the thymic gland. The mass weighed 270 g and measured 12.5 cm × 10 cm × 5 cm. The left thoracic cavity contained 2200 ml bloody pleural effusion and 200 g coagula due to hemorrhage from the tumor. Metastasized choriocarcinoma was seen in both lungs and the liver. High serum levels of human chorionic gonadotropin (HCG, 1 634 000 mIU/ml) and a decreased weight of the testes (2.0 g each) with Leydig cell hyperplasia/hypertrophy and the seminiferous tubules with hyaline ghost tubules or Sertoli cell only tubules were seen; other male reproductive organs were histologically normal. Although the serum testosterone level was within the normal range (5.75 ng/ml), luteinizing hormone (LH, 0.1 mIU/ml) and follicle-stimulating hormone (FSH, 0.3 mIU/ml) levels were decreased. High serum levels of HCG and characteristic testicular changes are drscribed.

Synchronous granular cell tumor of the bladder, endometrial carcinoma and endometrial stromal sarcoma

We describe a very rare case of synchronous granular cell tumor of the bladder, endometrial carcinoma and endometrial stromal sarcoma. A 55‐year‐old woman with a 4‐month history of genital bleeding was cytologically diagnosed with endometrial carcinoma. Imaging studies suggested concomitant bladder tumor with the possibility of direct invasion from endometrial carcinoma. Total abdominal hysterectomy with bilateral salpingo‐oophorectomy and transurethral resection of bladder tumor was performed. The bladder tumor comprised polygonal cells with abundant eosinophilic, finely granular cytoplasm, separated by collagenous tissue. Neither nuclear pleomorphism nor tumor necrosis was found. Immunohistochemical expression of neural markers of neuron‐specific enolase and S‐100 allowed the diagnosis of granular cell tumor (GCT) of the bladder. Microscopic examination of endometrium revealed endometrioid adenocarcinoma with squamous differentiation (EAC). Ill‐defined nodular lesion comprising endometrial stromal sarcoma (ESS) was accidentally found in myometrium. Postoperatively, the patient underwent radiotherapy. This is the first well‐documented case of synchronous triple tumors comprising GCT of the bladder, uterine EAC and ESS.