A case of chest wall rhabdomyosarcoma]

A 56-year-old man was admitted to our hospital with right chest pain. Chest X-ray, CT scan and MRI revealed a chest wall tumor and enlarged mediastinal lymph nodes. Percutaneous lung biopsy was performed, and the pathological diagnosis of pleomorphic rhabdomyosarcoma was obtained. The only significant abnormal laboratory finding was elevation of serum NSE (24.5 ng/ml). Although chemotherapy (VAC-ADM) and radiation therapy were performed, the patient died about 7 months after admission. To our knowledge, only 17 cases of chest wall rhabdomyosarcoma have been reported in Japan.     

Prenatal diagnosis of harlequin ichthyosis by fetal skin biopsy; report of two cases.

Two cases of harlequin ichthyosis were successfully diagnosed prenatally by fetal skin biopsy. The aborted fetuses were later confirmed to be afflicted with this very unusual skin disease. Both families had a previous history of harlequin ichthyosis. In performing the biopsy, it was found that amniotic fluid cytology can also be very helpful in the diagnosis of this kind of severe ichthyosis. With regard to these families, the disease may have been transmitted in an autosomal dominant fashion, and not in a recessive manner as is commonly believed.     

Hereditary stomatocytosis: phenotypical expression of sodium transport and band 7 peptides in 44 cases

The clinical heterogeneity and the role of red cell membrane protein band 7 in membrane transport were studied in 44 patients with hereditary stomatocytosis with normal red cell membrane lipids. These patients were arbitrarily categorized into three phenotypes, based on the extent of sodium influx: hereditary stomatocytosis Type I: with markedly increased Na influx (8.90 +/- 3.39 mmol/lRBC/h); Type II: with moderately increased Na influx (2.10 +/- 0.79) and Type III with normal Na influx (1.31 +/- 0.13). The three groups of patients were compared with normal controls (1.29 +/- 0.14). The extent of anaemia and jaundice was almost identical in the three groups in the presence of nearly the same degree of stomatocytosis (I: 54.8 +/- 10.7%, II: 38.8 +/- 12.8, and III: 40.2 +/- 10.8). Approximately one third of the cases (14/44) with hereditary stomatocytosis showed no overt haemolysis even with marked stomatocytosis. Cell hydration was abnormal in Type I (MCV 119.6 +/- 8.5 fl, MCHC 29.3 +/- 1.8%) but normal in Types II and III (MCV 98.2 +/- 11.7, 94.1 +/- 8.5; MCHC 34.4 +/- 2.1, 34.5 +/- 2.2). These results indicate that there was no correlation between the extent of Na influx and either the degree of stomatocytosis or the extent of overt haemolysis. The role of band 7 in membrane transport was also studied. Three components (30 kD, 28 kD and 26 kD polypeptides) of band 7 were analysed by SDS-PAGE and NEPHGE/SDS-PAGE, and the content of these polypeptides were expressed as the ratio to band 5. The 30 kDa polypeptide in the three groups was nearly identical to that in normal controls (12.3 +/- 4.0), except for non-haemolysing patients in Type II. The 28 kD peptide was also decreased in five out of nine cases of Type II (25.7 +/- 5.6) as compared with normal controls (32.9 +/- 3.6) and cases of Type I (35.8 +/- 2.8) and Type III (32.7 +/- 2.9). No deficiency of this peptide was noted in Type I patients. No correlation was observed between the content of the 28 kD polypeptide and Na influx (r = 0.416), but the 26 kD polypeptide tended to be elevated in cases with overt haemolysis. These results suggest that band 7 may not be essentially involved in the formation of stomatocytic changes, although the presence of subtle defects in band 7 structure and function may not be ruled out. The present findings provide an important starting point to initiate further extensive investigations.     

Effect of gravitation for detection of bronchioloalveolar carcinoma on computed tomography

A 64-year-old female was found to have localized ground-glass opacity (GGO) in the middle lobe on a chest computed tomography (CT) for screening. Middle lobectomy with video-assisted thoracoscopic surgery (VATS) was undertaken, and pathological diagnosis was a bronchioloalveolar carcinoma (BAC) in stage IA. A follow-up CT a year following the surgery revealed localized GGO in area S⁶ of the left lung. However, it disappeared during the gravitation-dependent gradient in the observation period. The patient was scanned again under prone position to exclude the gravitational effect, resulting in definite detection of the GGO. Left extended S⁶ segmentectomy with VATS was performed, and pathological diagnosis was a BAC in stage IA. As GGO existing in a gravitation-dependent area may be masked by the gravitation-dependent density, a change of the scanning position may lead to a proper detection of the tumor for the diagnosis of BAC.     

Pathogenesis of diabetic retinopathy and the renin-angiotensin system.

Despite the beneficial effects of good glycaemic control, loss of vision because of diabetic retinopathy (DR) still occurs. Recent studies have suggested that hypertension is a risk factor for the development and progression of DR and that blood pressure reduction can delay the progression of retinopathy. The renin-angiotensin system is activated by chronic hyperglycaemia, and the vitreous fluid level of angiotensin II (AII) is elevated in patients with proliferative diabetic retinopathy and diabetic macular oedema. AII increases vascular permeability and promotes neovascularization. It has been suggested that an autocrine-paracrine relationship may exist between AII and vascular endothelial growth factor in the ocular tissues. Accordingly, angiotensin-converting enzyme inhibitors or AII Type 1 (AT1) receptor blockers may be useful therapeutic agents for preventing the progression of DR.     

Analysis of T Cell Receptor Variability in Fresh Tumor-infiltrating Lymphocytes from Human Head and Neck Cancer

In this study, we analyzed T cell receptor (TCR) gene rearrangements in tumor-infiltrating lymphocytes (TIL) freshly obtained from 15 patients with head and neck cancer using the reversely transcribed polymerase chain reaction (RT-PCR) method. These TILs showed preferential expression of Vα10, Vα8 and Vα1, detected in 13 (87%), 11 (73%), and 9 cases (60%), respectively. The TCRVβ gene revealed diversity without preferential usage. The head and neck region is exposed to bacteria and viruses, so it is possible that the tumor site can become infected and accumulate T cells involved in infection and inflammation. Therefore, we also investigated TCR gene usage in T cells infiltrating in chronic sinusitis mucosa to address the question of whether the Vα1, Vα8, and Vα10 subfamilies are characteristic in TIL from squamous cell carcinoma of head and neck. TCR Vα10 gene usage was also the most common in Vα segment in T cells infiltrating the sinus mucosa, but Vα and Vα8 were not detected in the T cells in sinusitis. These results indicate that the Vα10 subfamily, the preferred T cell population in both TIL and T cells in inflammatory disease, might he involved mainly in inflammation or infection. On the other hand, Vα1 and Vα8 appear to be relatively specific populations for antitumor immunity in head and neck cancer.