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

Gastrointestinal tract (GIT) involvement in Langerhans cell histiocytosis (LCH) is not commonly described. We present two children presenting with GIT involvement with LCH, one successfully treated on standard protocol and other being treated on a protocol for relapsed disease. A review of literature showed almost 95% children were less than 2 years of age and 62% were females. Vomiting, abdominal pain, constipation, intractable diarrhea, malabsorption, bloody stools, protein-losing enteropathy, and even intestinal perforation are some of the reported symptoms. More than 50% patients died within 18 months from diagnosis.
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PMID:Langerhans cell histiocytosis with digestive tract involvement. 2053 29

Gastrointestinal (GI) tract involvement by Langerhans cell histiocytosis (LCH) is a rare condition. It is typically noted in male patients with systemic disease and is associated with both poor prognosis and high morbidity. The incidence peaks in childhood. However, a limited number of cases have been reported in adults. To further characterize this disease process, we collected 24 cases of GI tract LCH from 12 patients. The patients included 2 children (4 mo and 2.3 y) and 10 adults (40 to 77 y; mean, 58.4 y), with a female predominance (9 of 12, 75%). Both children presented with failure to thrive, bloody diarrhea, and anemia. In contrast, 5 of 10 (50%) adults were asymptomatic and the rest had unrelated symptoms. Endoscopically, the pediatric patients showed the involvement of the duodenum and multiple colonic sites. However, 8 of 10 (80%) adults presented with a solitary polyp, primarily involving the colorectum (7 of 8, 88%). The lesions ranged in size from 0.1 to 0.8 cm (mean, 0.4 cm), and were predominantly intramucosal (18 of 24, 75%) with either a marginated (14 of 24, 58%) or infiltrative (10 of 24, 42%) growth pattern. Microscopic features were similar to those of LCH found elsewhere, although some cases differed by showing prominent lymphocytes (12 of 24, 50%) rather than eosinophils and large nucleoli (2 of 24, 8%). Reactive overlying mucosal and entrapped epithelial changes (10 of 24, 42%), mucosal ulceration (3 of 24, 13%), focal necrosis (1 of 24), and multinucleated giant cells (1 of 24) were also identified. Mitotic figures were absent. On immunohistochemistry, all lesions expressed the S-100 protein and CD1a. Follow-up information was available for 11 (92%) patients ranging from 2 months to 5.3 years (mean, 1.8 y). One pediatric patient was lost to follow-up. However, the other patient developed multisystem disease and died 1 year after the initial diagnosis. Two adult patients developed cutaneous disease, 2 months and 2 years after the initial diagnosis, 1 of whom had multifocal colonic disease. On the basis of this study, GI tract LCH lesions present in both children and adults with a female predominance. Consistent with earlier reports, pediatric cases are associated with systemic disease and poor prognosis. However, in adults, LCH is typically encountered as an incidental, solitary polyp. Rare cases of systemic disease may occur and, therefore, close follow-up may be warranted.
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PMID:Gastrointestinal tract langerhans cell histiocytosis: A clinicopathologic study of 12 patients. 2126 52

The PI3K/AKT pathway is constitutively active in hematologic malignancies, providing proliferative and antiapoptotic signals and possibly contributing to drug resistance. We conducted an open-label phase 1 study to evaluate the maximum tolerated dose (MTD), safety, pharmacokinetics, and clinical activity of afuresertib-an oral AKT inhibitor-in patients with advanced hematologic malignancies. Seventy-three patients were treated at doses ranging from 25 to 150 mg per day. The MTD was established at 125 mg per day because of 2 dose-limiting toxicities in the 150-mg cohort (liver function test abnormalities). The most frequent adverse events were nausea (35.6%), diarrhea (32.9%), and dyspepsia (24.7%). Maximum plasma concentrations and area under the plasma concentration-time curves from time 0 to 24 hours were generally dose proportional at > 75-mg doses; the median time to peak plasma concentrations was 1.5 to 2.5 hours post dose, with a half-life of approximately 1.7 days. Three multiple myeloma patients attained partial responses; an additional 3 attained minimal responses. Clinical activity was also observed in non-Hodgkin lymphoma, Langerhan's cell histiocytosis, and Hodgkin disease. Single-agent afuresertib showed a favorable safety profile and demonstrated clinical activity against hematologic malignancies, including multiple myeloma.
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PMID:The novel AKT inhibitor afuresertib shows favorable safety, pharmacokinetics, and clinical activity in multiple myeloma. 2527 63

A 16-year-old girl was referred for the evaluation of headache exacerbation and progressive loss of visual field from one month ago. She also suffered from intermittent diarrhea since 12 months ago and secondary amenorrhea, headache, weight loss (4 - 5 kg) and weakness from six months ago. She had a history of transient polydipsia and excessive urine output during this period. Brain Magnetic Resonance Imaging (MRI) reported a 15 x 15 x 9 millimeters mass lesion in the sellar region. It was extended to the suprasellar cistern with mild compression of the optic chiasm and mild thickening of the pituitary stalk with posterior displacement were reported. In an exisional biopsy of pituitary stalk lesion, the pathology result was indicative of Langerhans cell histiocytosis (LCH). The patient underwent four periods of chemotherapy with prednisolone and vinblastin in 28-day intervals followed by one cycle of radiation therapy. In three months follow up after treatment the tumor size was reduced, Levothyroxin and Prednisolone were tapered, and pituitary hormones were improved.
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PMID:Pituitary stalk thickening in a case of langerhans cell histiocytosis. 2577 95


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