Paroxysmal nocturnal hemoglobinuria terminating as erythroleukemia.

A case of a patient who developed erythroleukemia 3 years into the course of paroxysmal nocturnal hemoglobinuria (PNH) is presented. A case of erythroleukemia with a positive sucrose lysis test has been reported, but our case appears to be the first with a long clinical course of PNH evolving into erythroleukemia. The association between these two diseases, their possible clonal origin, and how they fit into the myelodysplastic syndromes are discussed.     

Isolated pentasomy of chromosome 8 in erythroleukemia

Pentasomy 8 as a sole anomaly in hematological disorders is rare. Only 2 such cases, one in acute monocytic leukemia and one in chronic myelomonocytic leukemia have been described in the literature to date. Here, we report the first case of a 42 year old man with erythroleukemia displaying a pentasomy 8 clone. Conventional cytogenetics of bone marrow cells showed 16 metaphases with pentasomy 8 and 9 with normal diploidy. Fluorescence in situ hybridization (FISH) analysis using a whole chromosome painting probe and a centromeric probe specific for chromosome 8 confirmed the presence of pentasomy 8 and also revealed a low percentage of a trisomic and a tetrasomic clone. The patient died three days after diagnosis without chemotherapy. The findings suggest that pentasomy 8 is associated with a heterogeneous group of myeloid disorders and probably plays a specific role in the progression of myeloid neoplasia.     

Proboscis lateralis-Appropos of a case

Proboscis lateralis is a rare congenital malformation of nose. A case has been reported with tubular process arising just above the inner canthus of left eye with a distal opening. Reconstruction was planned but could not be carried out because the baby died of infant death syndrome. This case is being reported because of its rarity. The morphology and embryology of this abnormality have also been discussed.     

骨髓增生异常综合征与非造血干细胞克隆性疾病患者外周血及骨髓涂片细胞形态差异性研究

目的 对骨髓增生异常综合征(MDS)与非造血干细胞克隆性疾病患者外周血及骨髓涂片的细胞形态差异进行研究.方法 选取MDS患者与非造血干细胞克隆性疾病患者共165例,其中85例MDS患者作为观察组,80例非造血干细胞克隆性疾病患者作为对照组.采集观察组与对照组患者中骨髓细胞及外周血进行涂片,并分析和判定异常细胞比例.结果 观察组患者的血涂片中巨核细胞、幼红细胞、幼粒细胞及原始粒细胞比例均高于对照组,差异有统计学意义(P﹤0.05);观察组患者的棒状小体(Auer小体)、假性Pelger-Huet样核异常细胞、异常胞质颗粒、原粒细胞、核出芽、核空泡、核浆发育不平衡及高分叶的比例均高于对照组,差异有统计学意义(P﹤0.01);观察组患者多圆核巨核细胞、单圆核巨核细胞、畸形血小板、淋巴样小巨核比例均低于对照组,差异有统计学意义(P﹤0.01).结论 MDS中诊断价值最重要的是细胞形态学的异常,但部分病例在早期需要结合其他检测技术提高诊断的准确率.     

Anomalous Interposition Of Air Cells Between The Middle And Inner Ear

Combination of middle and inner ear anomaly is extremely rare. We describe a case where there was inner and middle ear anomaly on the right side and inner ear anomaly on the left side. This patient also had anomalous interposition of air cells between the middle and inner ear on the right side which precluded the use of cochlear implant. No such findings have been reported till date to the best of our knowledge.     

Left Aortic Arch with Right Descending Aorta

The radiographic findings in a 57-year-old-man with left aortic arch and right descending aorta are described. Left aortic arch with right descending aorta, first described by Paul in 1948, is a very rare congenital anomaly. To our knowledge only 16 cases have been reported in the English literature. We describe here an additional case to emphasize its existence and supplement the data in the literature.     

Identification of circulating micromegakaryocytes in a case of erythroleukemia

A 26-year-old man with erythroleukemia was found to have circulating micromegakaryocytes . Megakaryocytic features were defined by morphologic and cytochemical studies using light and electron microscopy with platelet-megakaryocyte peroxidase staining. This appears to be the first reported instance of erythroleukemia with circulating micromegakaryocytes .     

Breast cancer development in a female with Poland's syndrome

BACKGROUND: Poland's syndrome, a rare congenital anomaly characterized by a defect of the pectoralis muscles, has been reported in association with lymphoreticular malignancies and some solid tumors. CASE REPORT: We report the case of a 53-year-old woman with Poland's syndrome who developed breast cancer in the afflicted ipsilateral hypoplastic breast. FNA cytology revealed a moderately differentiated carcinoma and histology was consistent with a well differentiated invasive ductal carcinoma. CONCLUSION: Poland's syndrome can be associated with breast cancer so all females with the syndrome should be thoroughly examined for early detection of neoplasia.     

Poland's syndrome and gastric cancer: report of a case.

Poland's syndrome, a rare congenital anomaly characterized by pectoralis muscle defect and ipsilateral hand abnormalities, has been reported in association with various malignancies. Gastric cancer associated with Poland's syndrome has not been described previously. To our knowledge, the case of the 21-year-old man we describe herein represents the first report of Poland's syndrome associated with gastric cancer. Although previously there was no certain evidence that linked Poland's syndrome and cancer, elucidating the molecular mechanisms that cause this syndrome may further clarify the relationship between Poland's syndrome and malignancies. At least, these associations confirm the relationship between Poland's syndrome and malignancies, and require oncologic awareness.     

Evidence that a novel human differentiation-inhibiting protein blocks the dimethyl sulfoxide-induced differentiation of erythroleukemia cells by inhibiting the activation of membrane protein kinase C.

We have previously reported (J. P. Durkin et al., Blood, 79: 1161-1171, 1992) the isolation of a human differentiation-inhibiting protein (DIP) which selectively inhibits and blocks the differentiation of erythroid burst-forming unit progenitor cells in bone marrow colony assay, and the dimethyl sulfoxide (DMSO)-induced differentiation of cultured murine erythroleukemia (MEL) cells. DIP blocks MEL cell differentiation directly, without affecting the ability of the cells to proliferate. In the present study, DIP (at < 1 ng/ml) inhibited MEL cell differentiation only when added to the culture medium within 1 h after DMSO induction, indicating that it blocked an early, critical step in erythroleukemia cell differentiation. The protein kinase C (PKC) inhibitor H-7 also maximally inhibited the differentiation of MEL cells during this same period following induction, suggesting that DIP may have blocked an early PKC-dependent process. Indeed, DIP was found to abolish a transient increase in membrane PKC activity which was triggered in MEL cells within 10-30 min after DMSO addition. This increase in membrane PKC activity resulted from the activation of an inactive pool of PKC residing on membranes, and not from the translocation of cytosolic PKC to membranes. DMSO also stimulated membrane PKC activity and differentiation in human erythroleukemia cells and HL-60 myeloid leukemia cells. As was the case with MEL cells, DIP prevented the early activation of PKC and the differentiation of human erythroleukemia cells. However, it did not inhibit the early increase in PKC activity in HL-60 cells or the subsequent differentiation of these cells. These results suggest that DIP blocks erythroleukemia cell differentiation by inhibiting an early and critical activation of inactive membrane PKC.     

Leser-Trélat Sign without Internal Malignancy

Leser-Trélat sign is characterized by the abrupt appearance of multiple seborrheic keratoses in association with underlying malignant disease. A case of Leser-Trélat sign in a 66-year-old healthy woman is presented. Evaluation and follow-up for the development of malignancy over a 2-year period failed to reveal any evidence of malignancy. To date, almost all cases of Leser-Trélat sign have been reported in association with an underlying malignancy. It is less known that Leser-Trélat sign can also occur in healthy individuals in the absence of internal malignancy.     

中性粒细胞异常增殖相关的BCR/ABL-慢性白血病的临床特征

目的:探讨与中性粒细胞异常增殖相关的BCR/ABL-慢性白血病的临床特征.方法:报告3例不同类型与中性粒细胞异常增殖相关的BCR/ABL-慢性白血病并结合文献进行讨论.结果:3例均为老年男性,表现为以中性粒细胞为主的白细胞异常增多、BCR/ABL融合基因阴性.例1诊断为慢性中性粒细胞白血病(CNL),脾大,外周血以成熟中性粒细胞增高为特征,胞浆内中毒颗粒易见,无明显病态造血,中性粒细胞碱性磷酸酶(NAP)染色强阳性,骨髓粒系增生明显活跃.例2诊断为不典型慢性髓细胞白血病(aCML),血涂片示不成熟粒细胞比例增高伴粒系病态造血,尤其核染色质异常浓聚更为明显,骨髓象表现为髓系增生和病态造血,原始细胞轻度增多.例3诊断为慢性粒单核细胞白血病(CMML),外周血成熟单核细胞数量和比例异常偏高,粒系病态如核分叶过多、环状核和假性Pelger-Huet畸形等易见,骨髓髓系增生明显活跃伴病态造血,无原始细胞增多.结论:中性粒细胞异常增殖相关的BCR/ABL-慢性白血病较为少见,易于误诊,细胞形态学特征是诊断BCR/ABL-慢性白血病的基础.临床表现、多种实验室检查结果尤其是分子生物学等有助于正确诊断这类疾病.     

Small ureterocele‐like Gartner’s duct cyst associated with ipsilateral renal aplasia: A case report

Gartner’s duct cyst associated with ipsilateral renal aplasia is a rare anomaly and fewer than 40 cases have been reported in the literature. A case of Gartner’s duct cyst presenting like an ureterocele on sonography, intravenous pyelography and CT are described.     

Hepatocellular and gastric carcinoma associated with familial polyposis coli

A case of familial polyposis coli in association with hepatocellular and gastric carcinoma is reported. No similar case has ever been documented in the world literature. This may be surprising as it is well known that familial polyposis has a potent oncogenicity not only in the colon but also in extracolonic organs.     

A case of asbestos exposure complicated by a malignant pheochromocytoma

Reported is a case of non-functioning malignant pheochromocytoma. The patient had an occupational history of asbestos exposure and pleural plaque was seen in the chest X-rays. The tumor appeared from right adrenal gland and its size was 12 x 15 cm, which was measured by CT scanning. This determined to be non functioning because catecholamines in the serum and VMA in the urine were within normal limits. A metastasis of this tumor was seen in the lung, the liver, and the bone. So far as is known, this is the first case of asbestos exposure complicated with malignant pheochromocytoma that has been reported in the Japanese literature.     

Calponin h1 induced a flattened morphology and suppressed the growth of human fibrosarcoma HT1080 cells

Calponin h1 (CNh1) is an actin-binding protein that is expressed mainly in smooth muscle cells and is known to regulate smooth muscle contraction. Recently, re-expression of CNh1 in leiomyosarcoma cell lines is reported to suppress cell proliferation and tumorigenicity. However, little is known about the associated cellular structural and functional changes. Since CNh1 is also detected in normal fibroblasts, we hypothesised that CNh1 would also inhibit cell proliferation of the fibrosarcoma cells, HT1080, in which CNh1 is suppressed. An expression vector of human CNh1 complementary DNA was transfected into human HT1080 cells by a calcium-phosphate precipitation method. CNh1-transfected cells exhibited a flattened morphology with organised actin filaments, a significant decrease in cell motility and enhancement in adhesion to fibronectin in association with an increase in integrin alpha5beta1 expression. Anchorage-independent growth and tumorigenicity in nude mice were suppressed in the CNh1-transfected cells. Our results suggest that CNh1 may have a role as a tumour suppressor in human fibrosarcoma by influencing cytoskeletal activities.     

Congenital genitourinary anomalies. Is there a predilection for multiple primary malignant neoplasms?

A case of simultaneous uterine and renal cell carcinoma in an elderly woman who had a septate vagina, double cervix, uterus didelphys, and a single kidney secondary to contralateral renal agenesis is reported. She was treated for a period of 8 months, first with pelvic irradiation followed by total abdominal hysterectomy and bilateral salpingo-oophorectomy and subsequently with heminephrectomy. Her renal function was normal postoperatively. The patient died of congestive heart failure in June 1990 after being free of carcinoma for approximately 18 years. The authors believe that this is the only case of its kind currently reported in the literature. Four of her family members died of either gastric (n = 3) or lung (n = 1) cancer, and one sister is alive with colon cancer. Only 19 proven cases of this constellation of congenital anomalies have been reported in the literature, and none have been associated with genitourinary (GU) carcinomas. There is a 50% to 70% incidence rate of genital tract anomalies in female patients with unilateral renal agenesis, secondary to the intimate association of the mesonephric and müllerian ducts. It has been suggested that the GU tract is prone to multiple primary malignant neoplasms, and there are families genetically predisposed to the development of large bowel and GU carcinomas. No conclusions can be drawn concerning the development of carcinoma in patients with congenital GU anomalies because of the small number of patients and the lack of follow-up in the literature.     

p53 transgenic mice: accelerated erythroleukemia induction by Friend virus.

Mutations in the p53 tumor-suppressor gene have been implicated in the pathogenesis of a significant proportion of human cancers and in a dominantly inherited familial cancer syndrome (Li-Fraumeni syndrome). Frequent rearrangements and point mutations have also been detected in the p53 gene in the murine erythroleukemias induced by Friend leukemia virus. We have previously reported that transgenic mice overproducing a mutated p53 protein are predisposed to the development of lung carcinomas, bone and soft-tissue sarcomas, as well as lymphoid malignancies. Here we report that p53 transgenic mice infected with the polycythemia-inducing strain of Friend virus (FV-P) progress to the late stage of erythroleukemia more rapidly than do normal mice. In addition, Friend leukemic cell lines derived from p53 transgenic mice overproduce mutant p53 protein and show a high frequency of rearrangement of the ets-related Spi-1 oncogene, as previously reported in Friend cell lines derived from non-transgenic animals. These results suggest that the same genetic changes involved in the evolution of Friend leukemia in normal mice are also required in mice with an inherited predisposition to cancer. The data also indicate that p53 transgenic mice provide an animal model in which to analyse the role that genetic and environmental factors play in influencing cancer predisposition.     

Interstitial lung disease associated with FOLFOX chemotherapy

Currently, FOLFOX regimen has been widely used as an effective approach for treating many advanced GI tract cancers. Toxicity induced by oxaliplatin has been well known and mostly moderate and manageable. Gastrointestinal, hematological and neurosensory toxicities are the most common. However, information concerning the pulmonary toxicity of this regimen is very limited and only a few cases of severe lung toxicity associated with FOLFOX chemotherapy have been reported. Here, we report a fatal case of interstitial lung disease which was associated with FOLFOX chemotherapy in metastatic advanced gastric cancer. The patient expired from progressive respiratory failure. This case suggests that FOLFOX-induced interstitial lung disease should be considered in the differential diagnosis of new lung lesions in patients who are treated with FOLFOX chemotherapy. And further investigations of possible association that may lead to acute respiratory failure are warranted.     

Testicular mixed germ cell tumor in an adolescent with cowden disease

Cowden disease (also known as Cowden syndrome) is characterized by multiple organ hamartomatous tumors and an increased risk of malignancy, in particular of the breast, thyroid and endometrium. Testicular tumors including seminoma have previously been reported in adult patients. We are reporting, for the first time, a case of testicular mixed germ cell tumor in an adolescent with Cowden disease. An association of testicular malignancy in Cowden disease could be explained by the previous observation of strong PTEN gene expression in the basal cell layer around seminiferous tubules and increased frequency of PTEN mutations in cultured testicular cancer cell lines. Surveillance for breast, thyroid, endometrial and renal cancer has been recommended for individuals with Cowden disease. The association of Cowden disease and testicular malignancy in our case suggests the need for additional screening of testes.