Loss of heterozygosity of NF1 gene in juvenile chronic myelogenous leukemia with neurofibromatosis type 1.

To investigate a genetic relation between juvenile chronic myelogenous leukemia (JCML) and neurofibromatosis type 1 (NF-1), we analyzed the NF1 gene in the leukemic cells of a JCML patient with NF-1. We found a point mutation in exon 29 of one allele and a deletion of the other normal allele in the leukemic cells. The point mutation is considered a germline mutation because it was also detected in fibroblasts obtained from the bone marrow of the patient and the peripheral blood mononuclear cells from a sibling. A loss of heterozygosity of NF1 gene may contribute to the progression of leukemia in NF-1 patients.

The clinical course of acquired aplastic anemia in childhood; a retrospective study.

We reviewed the clinical courses of 38 children with acquired aplastic anemia (AA). The patients were classified according to the severity criteria by the Japanese Ministry of Health and Welfare (JMHW) Study Group (22 severe, 15 moderate, 1 mild). Early death was observed only in severe cases. Eight of the non-severe cases progressed to severe in 0.5-125 months, and the long-term survival rate of non-severe AA did not differ from that of severe AA. The frequency of lymphocytes in the bone marrow was significantly higher, and the peripheral blood neutrophil count was lower in patients who died within a year, and these patients should be treated as very severe. These findings suggest that the JMHW Study Group criteria are useful for identifying AA patients with a poor prognosis, but even non-severe cases should be repeatedly evaluated. Sixteen of the 33 patients treated with corticosteroids and/or anabolic steroids (AS) showed hematological recovery. Bolus methylprednisolone (mPSL) therapy was effective in one of the 8 patients. Allogenic marrow transplant (BMT) was performed on 3 patients. One died from sepsis and engraftment was not achieved in the other two. Trilineage recovery was obtained in 3 of 6 patients treated with rhG-CSF and rhEPO with or without AS, and hemopoiesis has been maintained 6-12 months after discontinuation in 2 cases. In the other 3 patients, the neutrophil count showed transient increase. Therefore, the treatment for severe AA patients, who have no sibling donor for BMT, should be started with the combination therapy including these cytokines.

Acute simultaneous bilateral vestibulocochlear impairment in neuro-Behçet's disease: a case report.

The central nervous system (CNS) is often a preferential target of Behçet's disease and diverse neurological manifestations have been described. Isolated hearing impairment or disequilibrium is also known to occur, but the simultaneous bilateral impairment of both vestibular and cochlear functions has been only rarely documented in Behçet's disease. A 52-year-old Japanese woman with neuro-Behçet's disease had meningoencephalitis, a profound thrombocytopenia, and bilateral vestibulocochlear impairment during the acute exacerbation. Although the CNS involvement was apparent, the clinical history and neuro-otological findings pointed to bilateral inner ear involvement rather than the brainstem or the 8th nerve lesions. She has made an excellent clinical response to pulse-dose methylprednisolone therapy with improvement in her neurological symptoms and in arresting the acute deterioration of hearing loss, but repeated audiograms failed to maintain the improvement with a modest dose of oral prednisolone. Since the bilateral vestibulocochleopathy can be as incapacitating as oculopathy in Behçet's disease, an early detection and prompt instillation of adequate corticosteroid therapy may be mandatory, although not curative.

[Imaged thoracoscopic surgery for bronchogenic cyst in posterior mediastinum--a case report].

A 44-year-old female with bronchogenic cyst in the posterior mediastinum was treated successfully by employing imaged thoracoscopic surgical methods in the same way as laparoscopic cholecystectomy. The patient was placed in the left lateral decubitus position. A first 3.5 cm skin incision was made in the seventh intercostal space on the mid-axillary line. A 10 mm, 0-degree Olympus wide angle telescope was inserted for observation into the thoracic cavity. And three more small skin incisions were done. A grasping forceps, a padron retractor and an electrode with J-hook tip were introduced through each incision. The cyst was completely dissected almost with the J-hook electrode. She was discharged on the 10th-postoperative day without complication and with minimal pain. We suggest that an indication of the imaged endoscopic surgery could be established for some benign mediastinal tumors.

[Treatment and prognosis after late relapse in childhood acute lymphoblastic leukemia].

We evaluated the clinical courses and laboratory features in 13 late-relapse cases of 55 children with acute lymphoblastic leukemia who had been in complete remission for longer than their years. In 8 of 13 cases, leukemia relapsed in bone marrow; 2 with testicular, 1 with central nervous system and one with ovarian involvement. Further, extramedullary relapse not involving bone marrow occurred in 5 cases (4 testicular and 1 CNS). Late-relapse was more frequently observed in boys (37.5%) than in girls (4.4%). Initial age and leukocyte counts were of no value in predicting late-relapse. The relapse rate in cases initially treated by the VPL regimen was twice that of those by a multi-drug regimen. A second prolonged remission was achieved in 5 of 10 cases by combinations of intensive chemotherapy (modified HEX) and irradiation to the testes or CNS. On the contrary, all late relapse patients initially treated by the multi-drug chemotherapy had a poor outcome. More intensive chemotherapy, including high-dose chemoradiotherapy and bone marrow transplantation, should be employed in this group of patients.

[High-dose busulfan, VP-16 and ACNU therapy with stem cell transplantation for the treatment of children with acute leukemia].

In order to strengthen the anti-leukemia effect, we developed a new conditioning regimen with high dose busulfan, VP-16 and ACNU (BVA) for cytoreduction before stem cell transplantation. Fourteen patients with refractory acute leukemia received allogeneic bone marrow transplantation (BMT) or peripheral blood stem cell transplantation (PBSCT) after conditioning with the BVA regimen, 7; allogeneic BMT, 1; syngeneic BMT, 6; PBSCT. # Seven patients were transplanted in the first complete remission, and 8 patients were in their second or third remission. Although total body irradiation or cyclophosphamide was not included in this regimen, engraftment was obtained in all cases. Two patients suffered relapse, and one patient died of cytomegalovirus interstitial pneumonitis (IP) 64 days after PBSCT. The other 11 patients are alive and free of disease at a median follow up time of 647 days (98-1235 days). Major regimen-related toxicity was pulmonary complications such as IP (3 cases) and pulmonary edema (2 cases). However, all patients recovered rapidly following steroid therapy. The results indicate that this conditioning regimen is highly effective for the treatment of childhood acute leukemia.

[Two resected cases of malignant fibrous histiocytoma originated from the thoracic soft tissues].

Two resected cases, a 56-year-old man and a 49-year-old man, of malignant fibrous histiocytoma originated from the soft tissues of chest wall were reported. In both cases, MFH was histologically diagnosed prior to our radical operation. One patient received an incisional biopsy and the other was a recurrent case after excisional resection in other hospital. We resected the whole chest wall together with the tumor sufficiently apart from the tumor margin. In one patient the defect of chest wall was reconstructed with the material made of bone cement which sandwiched between 2 sheets of marlex heavy mesh and covered by latissimus dorsi muscle flap on it. The other was reconstructed with single sheet of marlex heavy mesh and covered by rectus abdominis muscle flap. Recurrence was not seen in either of two patients, in spite of the general acknowledgment that MFH recurs frequently and locally. We considered that the extended wide resection including the whole chest wall should be performed, and that marlex heavy mesh and the pedunculated musculo-cutaneous flap was useful for the reconstruction of chest wall defect.

[A case report of solitary bone cyst of rib detected from pathological fracture].

A case of solitary bone cyst of rib was reported. The patient was 28-year-old man who was admitted to our hospital complaining of chest pain caused by pathological fracture of the left 10th rib. Chest x-ray film revealed a solitary cystic lesion of the 10th rib. The tumor was removed by extrapleural rib partial resection and the histological examination confirmed the diagnosis of solitary bone cyst.

Mammary gland growth and response to hormones in mastomys compared with mice.

Mammary gland growth with or without hormone manipulation was examined in virgin mastomys (Praomys (mastomys) natalensis) and compared with C3H/He mice having a low mammary tumor incidence. Mammary glands of mastomys consisted mostly of duct systems even at 720 days of age, whereas conspicuous formation of normal end-buds and preneoplastic hyperplastic alveolar nodules were seen in the glands of mice after 180 days of age. Mammary glands of mastomys showed a higher response to estrogen or progesterone rather than prolactin, which is much different from other rodents.