Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019621 (Langerhans cell histiocytosis)
 3,250 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The contribution of molecular mutations to the progression of Langerhans' cell histiocytosis (LCH) is not well understood. This study analyzes fractional allelic loss (FAL) across a series of tumor suppressor genes (TSGs) comparing LCH of various clinical stages and LCH involving organs of various degrees of prognostic risk. Polymerase chain reaction (PCR) amplification, using fluorescent-labeled primers targeting 6 TSGs, was performed on extracted DNA. The PCR products were analyzed using a capillary electrophoresis genetic analyzer. Ratios of the peak heights in informative cases were compared between unaffected and lesional tissue to identify loss of heterozygosity (LOH). Fisher's exact testing was used to analyze the results. Fourteen children with single-system involvement (SS-LCH) and 10 with multisystem involvement (MS-LCH) were included. High-risk or special-site organ involvement was seen in 13 children and low-risk organ involvement in 10. The mean FAL in MS-LCH (62.7%) was statistically significantly higher than in SS-LCH (40.3%). The FAL in children with risk or special-site LCH (53.2%) was also significantly higher than in children with low-risk LCH (39.6%). Markers on 5q had significantly higher FAL in MS-LCH (76.3%) and children with risk or special-site organ involvement (72.7%) compared with SS-LCH (46.2%) and children with low-risk organ involvement (37.5%). These data suggest that more extensive and higher-risk forms of LCH have evidence of more mutational events at TSGs. Further investigation of the potential use of LOH at 5q23 will be necessary to establish utility for this assay to predict disease progression and poor outcome.
 ...
PMID:Analysis of loss of heterozygosity in single-system and multisystem Langerhans' cell histiocytosis. 1737 22

Langerhans cell histiocytosis (LCH) carries a prognosis, which ranges from benign to potentially fatal. There is currently little framework to decipher metrics, which predict the benign versus aggressive nature of LCH. We wanted to determine whether molluscum contagiosum virus (MCV) DNA could be isolated from a cutaneous lesion, demonstrating Langerhans cell hyperplasia resembling LCH in a patient with both. Polymerase chain reaction on biopsy-proven MCV and the hyperplastic lesion has been performed. Two specific regions within the MCV genome were detected from both biopsies. The authors report our findings and suggest that some MCV can produce histological lesions resembling LCH, similar to the literature on scabies mimicking LCH. Efforts to find a reactive "driver" in LCH may significantly inform the clinical scenario.
...
PMID:Langerhans Cell Hyperplasia From Molluscum Contagiosum. 2514 Jun 67

Acute lymphoblastic leukemia (ALL) occasionally develops before or after the onset of Langerhans cell histiocytosis (LCH). The mechanism of LCH developing after ALL remains unclear; thus the clonality of LCH developing during maintenance chemotherapy for T-cell ALL (T-ALL) was investigated. The T-ALL and LCH cells tested had the same T-cell receptor (TCR) gamma rearrangement. Mutation analysis of the NOTCH1 gene revealed 7213C>T (Q2405X) in exon 34 in T-ALL and LCH cells, but 5156T>C (I1719T) in exon 27 only in T-ALL. Polymerase chain reaction-restriction fragment length polymorphism analysis revealed three patterns of NOTCH1 mutations in T-ALL cells. The results suggest that the T-ALL and LCH cells were derived from a common precursor with TCR rearrangement and a single NOTCH1 mutation, rather than LCH cells developing from a minor clone of T-ALL with single NOTCH1 mutation.
 ...
PMID:Unique clonal relationship between T-cell acute lymphoblastic leukemia and subsequent Langerhans cell histiocytosis with TCR rearrangement and NOTCH1 mutation. 2593 Jul 43