Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Six infants with acute megakaryoblastic leukemia and a translocation (1;22)(p13;q13) were studied. There were five female infants and one male infant, and the age at initial examination varied from 0.8 to 6.5 months (median, 2.3 months). All the patients had hepatosplenomegaly and anemia (6 to 8.3 g/dL), and four patients had thrombocytopenia (9,000 to 63,000/mm3). The bone marrow showed prominent fibrosis in five cases and reticulin fibrosis in one patient at presentation. Crush artifact often made the histologic sections difficult to interpret, but typical megakaryoblasts could be identified in the smears. Biopsy specimens of the liver and lymph node were suggestive of a nonhematopoietic malignant condition because of the cohesiveness of the tumor cells, stromal fibrosis, and the prominent sinusoidal and vascular pattern of infiltration. Immunophenotyping of peripheral blood mononuclear cells was helpful in identifying the blasts as belonging to the megakaryoblastic lineage. Using a panel of mononclonal antibodies, it was also possible to confirm the nature of the infiltration in paraffin sections and to differentiate it from other childhood small round cell tumors, especially neuroblastoma in paraffin sections (typical staining pattern: CD45-, CD43+, vW Factor, Ulex europeus I+, CD20-, CD45RO-, synaptophysin-, chromogranin-, cytokeratin-, desmin-). This special type of infantile acute leukemia can be recognized with confidence if one is aware of its clinical features, peculiar pathologic characteristics, the morphologic features and immunophenotype of the megakaryoblasts, and the unique cytogenetic abnormality.
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PMID:Acute megakaryoblastic leukemia in infants with t(1;22)(p13;q13) abnormality. 151 33

Leiomyoblastomas are rare smooth muscle tumors occurring most commonly in the gastrointestinal tract of adults. We report the unusual occurrence of a gastric leiomyoblastoma in a child who presented with refractory iron deficiency anemia. The tumor had a superficial erosion which was apparently the source of intermittent hemorrhage resulting in anemia. Epithelioid cells, spindled cells, and cells arranged in a perithelial pattern were seen by microscopy, characteristic of a leiomyoblastoma. Immunohistochemical staining demonstrated muscle actin, vimentin, desmin, and alpha-1-antichymotrypsin, and electron microscopy showed focal densities alternating with thin filaments. All of these features help to differentiate the tumor from an inflammatory pseudotumor. Leiomyoblastomas are associated with paragangliomas and pulmonary chondromas in children, but these were not present in this child. The prognosis of leiomyoblastomas may be related to tumor size, mitotic rate, and cellular characteristics.
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PMID:Gastric leiomyoblastoma (epithelioid leiomyoma) occurring in a child: a case report. 271 1

Gastrointestinal Autonomic Nerve Tumors (GANTs) are an underrecognized group of gastrointestinal stromal tumors (GISTs) putatively arising from the neural plexuses of the bowel wall. Approximately 24 cases have been previously reported. Their histogenesis, malignant potential, morphology and phenotypic features are not well defined. We present details of 10 GANTs iterating features, predominantly ultrastructural, allowing distinction from other GISTs. Clinical details are: sex-7M, 3F; age range 31-79 yrs, mean 53; symptoms/signs--abdominal pain 3, GI bleeding 3, mass 2, anemia 2. Follow-up ranged from 1-102 mths, mean 29. Seven tumors involved the small intestine and 3 were gastric. Tumor size ranged from 30-160 mm, mean 79. They were solid and cystic, often transmural and usually involved mesentery and retroperitoneum. Spindled and epithelioid cells were "compartmentalized" by a branching microvasculature. Eosinophilic, PAS positive stromal globules were prominent. Paraffin immunostaining results were (number positive/total): vimentin (8/9), NSE (10/10), S100 protein (6/10), neurofilament protein (0/9), synaptophysin (3/9), desmin (2/9, focal), smooth-muscle actin (0/9). Ultrastructural diagnostic features were elaborate, branching cytoplasmic processes containing microtubules, intermediate filaments and varying numbers of neurosecretory granules. Characteristic features were elaborate smooth endoplasmic reticulum enmeshed with intermediate filaments, pleomorphic mitochondria with lamellar cristae, mitochondrial-RER complexes, confronting RER cisternae, and circumscribed collections of stromal "skeinoid" fibres. There were no features of smooth muscle, Schwannian or perineurial differentiation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Gastrointestinal autonomic nerve tumors: a clinicopathological, immunohistochemical and ultrastructural study of 10 cases. 789 47

Symptomatic uterine lymphangioleiomyomatosis (LAM) simulating high-stage uterine sarcoma in a patient with tuberous sclerosis complex is reported. A 49-year-old female presented with abdominal pain and anemia. Preoperative workup revealed a uterine mass and a large amount of peritoneal free fluid and possible metastatic implant along the lateral edge of the liver. The patient also had a large right pleural effusion. A fungating anterior uterine fundal mass with apparent perforation and intraabdominal hemorrhage was found on laparotomy. A portion of the mass was excised and initially interpreted as an endometrial stromal sarcoma. Microscopic examination revealed multiple vascular epithelioid smooth muscle proliferations in the uterus and serosal surface of the fallopian tube and periaortic lymph node lymphangioleiomyomas. The uterine, fallopian tube, and nodal lesions were positive for smooth muscle actin, desmin, and HMB-45, findings characteristic of LAM. Additional examination of the patient revealed stigmata of tuberous sclerosis complex. Although uterine LAM is uncommon, it may be associated with pelvic and/or abdominal symptoms and may simulate a primary uterine mesenchymal neoplasm.
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PMID:Lymphangioleiomyomatosis of the uterus simulating high-stage endometrial stromal sarcoma. 894 80

We report a gastrointestinal autonomic nerve tumor of the stomach with a giant abscess. The patient had fever and pain and was found to have anemia and an abdominal mass. X-ray and endoscopic examination showed a gastric submucosal tumor with a fistula to the gastric lumen. Partial gastrectomy was performed and no metastasis was found. On gross examination, the excised tumor was seen to be a submucosal solid tumor with a giant abscess. Alpha streptococci and anaerobic gram-negative rods were cultured from the pus of the abscess. The tumor resembled a gastric myogenic tumor composed of spindle cells, partly showing storiform and epithelioids. Tumor cells showed positive staining for vimentin and neuron-specific enolase but were negative for desmin, alpha-smooth muscle actin, and S-100 protein. Ultrastructural examination showed remarkable interdigitation of cytoplasmic processes with neurosecretory granules between the tumor cells. This lesion was similar to previously described gastrointestinal autonomic nerve tumors. Gastrointestinal autonomic nerve tumors are a rare, distinct subtype of gastrointestinal stromal tumors; although several cases of focally necrotic tumors have been reported, there has been only one report of the tumor with an abscess, as in our case.
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PMID:Gastrointestinal autonomic nerve tumor with giant abscess. A case report and literature review. 925 61

We report a case of alveolar rhabdomyosarcoma (AR) with massive infiltration of bone marrow at presentation, and initial diagnosis in bone marrow aspirate. A 35 year old man presented with a submandibular mass, and hematomas after mild traumatisms. Peripheral blood showed thrombocytopenia and a normocytic anaemia. Bone marrow film showed diffuse involvement by undifferentiated blasts with rhabdomyoblastic features. Subsequent biopsy of submandibular lymph node confirmed the diagnosis with positivity for specific muscle actin and desmin, and negativity for lymphoid markers. Initial presentation of AR with extensive bone marrow involvement is extremely rare, and it could lead to wrong diagnosis and treatment of acute leukaemia, with the serious consequences that this would have. Immunohistochemical study and morphologic differential features can be of great diagnostic help.
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PMID:[Alveolar rhabdomyosarcoma with massive infiltration of the bone marrow as its initial manifestation]. 974 Dec 33

Rhabdomyosarcoma is the most common soft tissue sarcoma in adolescence and childhood, which manifests by the locally destructive growth of the primary tumor or its metastases. We report on a 29-year-old man with an alveolar rhabdomyosarcoma presenting with an unusual leukemia-like picture. On admission, the patient suffered from diffuse bone pain and renal insufficiency. Peripheral blood analysis showed anaemia, thrombocythaemia and blast-like cells. A bone marrow aspirate revealed extensive infiltration by atypical blast-like cells which were interpreted as acute lymphoblastic leukemia. Although confirmation of this diagnosis by immunophenotyping did not succeed chemotherapy was started immediately and led to partial remission. Histologic analysis of a bone marrow biopsy from the iliac crest, however, revealed an extensive solid tumor with alveolar spaces, lined by primitive round cells with positive PAS-reaction in the cytoplasm. Immunostaining demonstrated a positive reaction of the tumor cells for desmin and in a few tumor cells for smooth-muscle-actin. Chromosomal analysis showed a t(2;13) translocation typical for alveolar rhabdomyosarcoma. Although multiple lytic lesions of the skeletal system became evident during the further clinical course, the site of origin of the primary tumor could not be defined retrospectively. In conclusion, rhabdomyosarcoma should be included in the differential diagnosis of systemic diseases with extensive bone marrow infiltration by tumor cells that could otherwise be misinterpreted as a haematologic malignancy.
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PMID:[Alveolar rhabdomyosarcoma presenting as acute leukemia]. 1009 56

To clarify the cellular differentiation features and facilitate diagnosis of angiomatoid (malignant) fibrous histiocytoma (AFH), four cases of AFH were examined by clinicopathologic, immunohistochemical and ultrastructural analyses. The age of the patients ranged from 10 to 24 years (mean, 17 years) and the sex distribution was equal. All cases were of subcutaneous origin: three arose in the trunk and one in the upper extremity. All patients presented with systemic symptoms, including inflammatory signs and anemia. After a mean follow up of 11 years 3 months, all patients were alive and well, although one patient twice developed local recurrence after surgery. All cases presented as multinodular, cystic and hemorrhagic tumors ranging in size from 4 to 11 cm (mean, 8 cm) and were characterized by sheets of bland spindle or round cells with oval nuclei within a circumscribed nodule often surrounded by a lymphocytic cuff. One tumor showed predominantly round cell morphology similar to Ewing's sarcoma/primitive neuroectodermal tumor. All cases (100%) exhibited immunoreactivity for vimentin, desmin, CD68 and CD57 (Leu-7). Three cases (75%) were positive for synaptophysin, and reactivity for alpha-smooth muscle actin, epithelial membrane antigen, neuron-specific enolase and CD99 (O-13) was present in two cases (50%) each. The three cases examined by electron microscopy had a mixture of fibrohistiocytic, myofibroblastic and undifferentiated cells containing cytoplasmic processes and dense-core granules. It is important for accurate diagnosis of this peculiar soft-tissue tumor to recognize that it has a variety of immunophenotypes, such as histiocytic, myofibroblastic, epithelial and neural, and may occasionally have a predominantly round cell morphology.
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PMID:Angiomatoid (malignant) fibrous histiocytoma: a peculiar low-grade tumor showing immunophenotypic heterogeneity and ultrastructural variations. 1101 87

A 7-year-old neutered female English Setter presented with syncope, anemia, and weight loss. Clinical examination revealed a systolic murmur and echocardiography demonstrated a mass on the pulmonic valve. Postmortem examination confirmed the presence of a pulmonic valve mass that extended along the pulmonary trunk and into the left pulmonary artery. Multiple pale nodules were observed in the right lung. Microscopic examinations of the pulmonary artery mass and the lung nodules revealed a pleomorphic population of spindle cells often arranged in broad bands containing strap-like nuclei and eosinophilic cytoplasm devoid of cross striations. The neoplastic cells expressed vimentin and alpha-smooth muscle actin but did not express desmin, CD31, factor VIII, or S100. The presentation, histological features, immunocytochemical profiles, and behavior of this tumor were indicative of a primary pulmonary artery leiomyosarcoma with lung metastasis.
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PMID:Primary pulmonary artery leiomyosarcoma in an adult dog. 1110 58

Primary pulmonary artery sarcomas (PASs) are rare and lethal tumors. They are easily misdiagnosed as chronic pulmonary embolism, mediastinal mass or tumor emboli, which delay a proper treatment. Although the advanced technologies are now increasingly being used, their diagnosis is usually hard to establish preoperatively at the present time. We report here a case of a 68-year-old female with PAS with lung metastases, who firstly presented with symptoms of common cold and anemia. Although a PAS had been suspected, the final diagnosis of pulmonary intimal sarcoma was made only postoperatively by histological and immunohistochemical examination. The patient died 8 months after the operation because of tumor growth progression, despite adjuvant chemotherapy and radiation therapy. Although pulmonary intimal sarcomas are usually of poorly differentiated mesenchymal malignancy, most reported cases are immunohistochemically positive for vimentin, alpha-smooth muscle actin (SMA), and/or desmin, therefore resembling leiomyosarcomas. However, the diagnosis of leiomyosarcoma should not be made on the basis of immunostains in the absence of typical morphologic features, and PAS, like the present case, should be more appropriately classified as intimal sarcoma according to the new WHO Classification of Tumours of Soft Tissue and Bone published in 2002.
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PMID:Intimal sarcoma of the pulmonary artery: report of an autopsy case. 1613 54


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