Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034069 (pulmonary fibrosis)
 7,050 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Ten patients with Bloom's syndrome observed in Germany during the last 20 years are described. They were born between 1964 and 1986. Seven are alive at the age of 8 to 27 years. Three have died at the age of 5 years (acute leukemia), 18 years (pulmonary fibrosis and bronchiectasis), and 21 years (Hodgkin lymphoma and subsequently leukemia). All show the characteristic clinical and cellular phenotype. In addition to the known early occurrence of malignancies, certain behavioral patterns, the occurrence of hyper- and hypopigmented areas in the skin, pulmonary manifestations, and exquisite sensitivity to chemotherapy and probably also to radiotherapy are emphasized. The potential usefulness of bone marrow preservation for later use in autologous transplantation has not yet been determined. Several features of Bloom's syndrome can be understood on the basis of a genetically determined high rate of somatic recombination.
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PMID:Bloom's syndrome: the German experience. 180 25

Patients with preleukemic myeloid neoplasia can develop nonhematologic disease. Five patients with the myelodysplastic syndrome presented with interstitial lung disease that heralded acute leukemia in 3. Chest radiographs showed diffuse interstitial opacities, and the lung biopsies showed diffuse cellular interstitial and fibrosing pneumonitis with prominent alveolar filling by macrophages. There was no evidence to support a drug-induced or infectious etiology, and all cases lacked an identifiable leukemic infiltration. The inflammatory infiltrates and fibrosis were analyzed morphometrically, and this revealed a trend toward an indirect correlation between both CD68 cells and MPO-positive inflammatory cells and pulmonary fibrosis. We conclude that preleukemic myeloid neoplasia can be associated with an interstitial pneumonitis with histopathologic features that are distinguishable from both leukemic infiltration and "usual" nonspecific interstitial pneumonia.
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PMID:Diffuse cellular and fibrosing interstitial pneumonitis with desquamative interstitial pneumonitis-like features associated with myeloid neoplasia. 1965 3

The telomeropathies are a newly described group of human diseases based on the genetics and molecular biology of the telomeres, the ends of chromosomes. Telomeres are repeated hexanucleotides and their associated proteins; the protect chromosomes from recognition as damaged DNA, and their inevitable gradual loss with DNA replication is harmless as they are noncoding. However, when telomeres become critically short in a cell, senescence, apoptosis, or, rarely malignant transformation results. In individuals with mutations in genes involved in telomere repair, especially the enzymatic telomerase complex, telomere attrition is accelerated. Severe deficiencies result in dyskeratosis congenita, a congenital aplastic anemia with associated mucocutaneous abnormalities. Mutations in TERT, the catalytic component, and TERC, the RNA template, can behave as risk factors for the development of bone marrow failure, pulmonary fibrosis, and hepatic cirrhosis. Both penetrance and organ specificity are variable and not well understood. Chromosome instability is a result of critical shortening of telomeres and cancer. For example, short telomeres are the major prognostic risk factor for clonal evolution to myelodysplasia and acute leukemia. Practically, hematologists need to recognize the multisystem presentation of telomere disease, implications for outcomes, and options for therapy.
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PMID:Bone marrow failure and the new telomere diseases: practice and research. 2250 70

The clinical manifestations of inherited susceptibility to leukemia encompass a wide phenotypic range, including patients with certain congenital anomalies or early-onset myelodysplastic syndrome (MDS) and some with no obvious medical problems until they develop leukemia. Leukemia susceptibility syndromes occur as a result of autosomal dominant, autosomal recessive, or X-linked recessive inheritance, or de novo occurrence, of germline pathogenic variants in DNA repair, ribosome biogenesis, telomere biology, hematopoietic transcription factors, tumor suppressors, and other critical cellular processes. Children and adults with cytopenias, MDS, dysmorphic features, notable infectious histories, immunodeficiency, certain dermatologic findings, lymphedema, unusual sensitivity to radiation or chemotherapy, or acute leukemia with a family history of early-onset cancer, pulmonary fibrosis, or alveolar proteinosis should be thoroughly evaluated for a leukemia susceptibility syndrome. Genetic testing and other diagnostic modalities have improved our ability to identify these patients and to counsel them and their family members for subsequent disease risk, cancer surveillance, and therapeutic interventions. Herein, the leukemia susceptibility syndromes are divided into 3 groups: (1) those associated with an underlying inherited bone marrow failure syndrome, (2) disorders in which MDS precedes leukemia development, and (3) those with a risk primarily of leukemia. Although children are the focus of this review, it is important for clinicians to recognize that inherited susceptibility to cancer can present at any age, even in older adults; genetic counseling is essential and prompt referral to experts in each syndrome is strongly recommended.
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PMID:Pediatric leukemia susceptibility disorders: manifestations and management. 2922 62