Acute myelofibrosis--a leukemia of pluripotent stem cell. A report of three cases and review of the literature

The histogenesis of blasts in acute myelofibrosis is generally regarded to be of megakaryocytic origin. Three case reports are presented and 19 other reported cases were reviewed from the literature where the cells of origin appear to be myeloblasts, myelomonoblasts, lymphoblasts, or undifferentiated blasts. It is therefore postulated that acute myelofibrosis is a hemopoietic stem cell disorder, and acute megakaryocytic leukemia (FAB-M7) represents one subset of the disorder.     

Untreated chronic lymphocytic leukemia concurrent with or followed by acute myelogenous leukemia or myelodysplastic syndrome. A report of five cases and review of the literature

Although it has been known that patients with chronic lymphocytic leukemia (CLL) have a higher frequency of second malignant neoplasms, the development of acute myelogenous leukemia (AML) or myelodysplastic syndrome (MDS) in these patients is extremely rare. Most reported cases have been therapy-related. In this article, we report the clinical and immunophenotypic features of 5 cases of untreated CLL concurrent with or followed by the development of AML or MDS. All 5 patients were men, with ages ranging from 57 to 87 years (mean, 73.8 years). Four patients had AML and 1 patient had refractory anemia with ringed sideroblasts. In the 4 cases of AML and CLL, 2 distinct cell populations (i.e., myeloblasts and lymphocytes) were identified morphologically and/or immunophenotypically. Our findings support that this rare concurrence of AML or MDS and untreated CLL may represent 2 separate disease processes.     

Interdigitating dendritic cell sarcoma. A report of four cases and review of the literature

To better define the clinical and pathologic features of interdigitating dendritic cell sarcoma (IDCS), we report 4 cases, including the first reported in the tonsil. There were 2 male and 2 female patients (mean age, 70 years). Sites of tumor included 1 case each in the right cervical lymph node, left axillary lymph node, right tonsil, and right inguinal lymph node. Histologically, all showed diffuse effacement of the lymphoid tissue by pleomorphic round to spindled cells with convoluted nuclei and abundant eosinophilic cytoplasm. All were immunoreactive for S-100, CD68, lysozyme, and vimentin. CD45 was positive in 3 cases and CD1a in 1 case. Fascin was positive in 3 cases. Other immunostains, including CD3, CD20, CD21, CD30, actin, cytokeratin, and HMB-45, were negative. Ultrastructurally, the tumor cells were elongated and showed indented nuclei, variable numbers of lysosomes, and interdigitating cytoplasmic processes. Follow-up was available for all cases. One patient died of widespread disease 2 months after diagnosis. One was alive with metastatic lung disease at 12 months. Two patients were disease free at 5 and 9 months.     

Perlman syndrome: four additional cases and review.

Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually Wilms tumor.     

Case report and literature review: a rare patient with chronic myeloid leukemia and chronic lymphocytic leukemia

Chronic lymphocytic leukemia (CLL) and chronic myeloid leukemia (CML) are the most common leukemias of the elderly. However, the sequential occurrence of CML followed by CLL in the same patient is extremely rare. In the present report, a 71-yr-old man was diagnosed with Philadelphia (Ph) chromosome positive CML and treated with imatinib mesylate. He went into morphologic, cytogenetic, and molecular remission. Seven years after the diagnosis of CML, he developed CLL. We describe the morphologic, immunophenotypic, cytogenetic, and molecular findings in this patient.     

Ovarian pregnancy: report of four cases and review of the literature

Ovarian ectopic pregnancy is rarely seen; it constitutes only 0.5-3% of all ectopic pregnancies and the incidence is only 1 for every 7000-40,000 deliveries. We herein report four cases of primary ovarian pregnancy encountered during the last 10 years in Miyazaki prefecture, Japan. The patients in all of these cases were admitted to their local hospitals with increased lower abdominal pain and intraperitoneal bleeding, and had surgery for total or partial oophorectomy. Grossly and microscopically, chorionic villi were exclusively found in the ovary but not in the fallopian tube, so that we diagnosed these cases as primary ovarian pregnancies. None of the patients were known to have used an intrauterine contraceptive device, which have been suggested as the cause of ovarian pregnancies in several studies. The incidence of ovarian pregnancy is recently increasing, and pathologists will have increased chances to diagnose this disease.     

Primary malignant fibrous histiocytoma of the breast. A report of four cases and review of the literature.

Clinical, light microscopic and immunohistochemical features of four cases of primary malignant fibrous histiocytoma (MFH) of the breast are presented. Twenty-eight cases have been reported previously. We found that the prognosis of primary MFH located in the parenchyma of the breast is comparable to the prognosis of other MFH located superficial to the fascial level. We therefore conclude that simple mastectomy is adequate surgical therapy for MFH located in the breast. The possible beneficial effects of adjuvant therapy need further investigation.     

Cardiovascular anomalies of cephalothoracopagus synotus. A case report and review of the literature of 23 Japanese autopsied cases

A case of cephalothoracopagus female twins is reported, and the anatomical and pathologic features are described in detail. The central nervous systems were completely double. However, there were three eyeballs, two on the well-formed face and one in the cranial base, forming a saddle-shaped ridge of orbital plates. The latter was supplied by optic nerves of both individuals. On the other hand, there was a single esophagus, stomach and duodenum, but the intestine was shared equally at the jejunum by the two individuals. The larynges, tracheae, lungs, hearts, livers, pancreases, spleens and urogenital organs were also duplicated. Previously unreported abnormalities of the hearts are described, and a comparison with similar autopsy cases reported previously in Japan is given.     

Genetic characterization of the paraimmunoblastic variant of small lymphocytic lymphoma/chronic lymphocytic leukemia: A case report and review of the literature

Paraimmunoblastic variant of small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL) is characterized by a diffuse proliferation of cells, called paraimmunoblasts, normally located on the pseudoproliferation centers. Patients usually present with multiple lymphadenopathies and a rapid and aggressive progression of the disease. We report a case with paraimmunoblastic variant of SLL/CLL genetically well-characterized by conventional cytogenetics, comparative genomic hybridization (CGH), IgH/BCL-1, IgH/BCL-2, and p53 fluorescent in situ hybridization (FISH) probes and polymerase chain reaction (PCR) for detection of IgH/BCL-2 translocation. A complex karyotype was found, with p53 deletion confirmed by CGH and FISH; however, no translocations involving either BCL-2 or BCL-1 and the immunoglobulin heavy chain gene were identified. A literature review shows only 20 previously reported cases, 6 of which involve genetic studies.     

Cardio-facio-cutaneous syndrome: three additional cases and review of the literature.

We report on 3 patients with the cardio-facio-cutaneous (CFC) syndrome. Each of them was a sporadic case in the family. The severity of the psychomotor retardation varied from mild to severe. Skin manifestations were often minimal, but each patient had abnormally curly and brittle hair. A skin biopsy from one of the patients showed vellus hair cysts filled with keratin, and the hair follicles were surrounded by unusually thick fibrotic sheaths.     

A varied presentation of hydatid cyst: a report of four cases with review of literature

Contrary to the popular perception, hydatosis does not remain restricted to certain geographical locales but is a global health concern, particularly in the rural countryside. Although liver and lung involvement account for the majority of the lesions, primary breast, bone, kidney and soft tissue hydatosis with features of cystic echinococcosis are extremely rare. We report four such rare cases of cystic echinococcosis which were diagnosed and treated in our institute.     

ALK-positive diffuse large B-cell lymphoma: report of four cases and review of the literature.

We report detailed clinical and pathologic features of four cases of anaplastic lymphoma kinase-positive diffuse large B-cell lymphoma (ALK-DLBCL), a rare entity with only 29 currently reported cases. This study is the third largest of all reported series. Biopsies from four adult patients aged 41, 49, 53, and 71 years (three lymph nodes and one nasopharyngeal mass) exhibited immunoblastic/plasmablastic morphology. By immunohistochemistry and/or flow cytometry, they expressed cytoplasmic ALK-1, CD138, VS38 (3/3), monoclonal cytoplasmic light chain, CD45, EMA, CD4, and CD57 (2/3), and were negative for CD3, CD30, CD56, and TIA-1. Two showed variable CD79a expression, and one had rare CD20(+) cells. Two of three cases exhibited rare CD43(+) reactivity. One case showed scattered cytokeratin(+) cells, which could possibly lead to a misdiagnosis of carcinoma. After CHOP and radiotherapy, two stage I patients were free of disease at 58 and 36 months, whereas a stage IV patient was dead of disease at 22 months.     

烧伤患者毛霉菌侵袭性感染（附4例报告）并文献复习

目的探讨烧伤患者毛霉菌侵袭性感染的临床表现、诊断和治疗方法。方法分析我科多年来收治的4例毛霉菌感染病例。本组4例均为男性,烧伤面积70%~94%,分别于伤后18~31d发生毛霉菌感染,4例均采用组织病理切片,2例同时有创面培养毛霉菌感染确诊。确诊后予彻底清创或截肢,并调整抗真菌药物。结果本组4例均于病程中后期出现毛霉菌感染,均有成片肌肉受累,在清创（其中截肢3例）、抗真菌治疗后,4例均于短期内死亡。结论烧伤创面发生毛霉菌侵袭性感染十分少见,病情进展快,预后差;尽早手术切痂植皮、封闭创面,去除毛霉菌定植的土壤;对可疑病例应及时确诊,立即手术彻底清创或截肢、使用两性霉素B或其脂质体有助于改善预后。     

Chronic lymphocytic leukemia mimicking recurrent carcinoma of the breast: case report and review of the literature

Secondary localization of chronic lymphocytic leukemia (CLL) in breast is rare, while concurrent invasive ductal carcinoma and CLL manifesting as a collision tumor in breast is extremely rare.The observation of a CLL infiltration closely associated with a distinct breast neoplasm with the absence of any other localization for the leukemia is an indisputable argument for a relationship between the two diseases. The presence of both tumors is not simply due to chance. This association (CLL and carcinoma) has also been described in other organs.Hereafter, we report a second case of an 80 year-old woman in whom a leukemic infiltrate was confined to the region immediately surrounding poorly differentiated primary breast carcinoma, and we will discuss the association between CLL and carcinoma.     

Acute lymphocytic leukemia with atypical cytochemical features.

In a series of 78 cases of acute lymphocytic leukemia, seven were found to demonstrate blast cells staining strongly for both the periodic acid-Schiff reaction and alpha-naphthyl acetate esterase. It is suggested that these features may represent a subclassification of acute lymphocytic leukemia or may be a marker for the leukemic phase of lymphoma.