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 use of fine-needle aspiration biopsy (FNAB) in the initial evaluation of pediatric bone and soft tissue tumors is controversial, especially for those patients being considered for histiogenetic-specific therapeutic protocols, e.g., the Intergroup Rhabdomyosarcoma Study Group, the Pediatric Oncology Group. We retrospectively reviewed 33 consecutive FNAB specimens (28 primary tumors, 5 metastases) from 32 pediatric patients (< or = 19 yr of age), none of whom had a previously established tumor diagnosis. In one patient, FNAB of the primary tumor and a presumed axillary metastasis were obtained concomitantly. The cytomorphologic analysis included osteosarcoma, eight patients; rhabdomyosarcoma, five; neuroblastoma, five; Ewing's sarcoma/primitive neuroectodermal tumor, four; Langerhans' cell histiocytosis, three; and one each synovial sarcoma, undifferentiated sarcoma, infantile myofibromatosis, fibroma, chondroblastoma, chondromyxoid fibroma, and desmoplastic small round-cell tumor. Ancillary studies, e.g., immunocytochemical analysis, were used in 13 cases. Cytogenetic analysis helped to confirm one Ewing's sarcoma [t (11;22) (q24;q12)] and one synovial sarcoma [t(X;18) (p11;q11)]. With adequate FNAB specimens, a histogenetic-specific diagnosis was rendered in 27 (93%) of 29 cases, and all were correctly recognized as either benign or malignant. One case each of Langerhans' cell histiocytosis, chondroblastoma, and infantile myofibromatosis yielded unsatisfactory specimens. Fibroma and desmoplastic small round-cell tumor were initially misclassified as nodular fasciitis and rhabdomyosarcoma, respectively. Of 18 patients clinically eligible for histogenetic-specific therapy protocols, an accurate diagnosis was obtained in 17 patients. With a multidisciplinary approach and judicious use of ancillary studies, FNAB represents a highly accurate and cost-effective technique for the diagnosis of pediatric bone and soft tissue tumors, especially sarcomas, and should be considered as a viable diagnostic technique for pediatric therapeutic protocols.
 ...
PMID:The role of fine-needle aspiration biopsy in the initial diagnosis of pediatric bone and soft tissue tumors: an institutional experience. 979 16

Primary skull lesions, albeit rare in the pediatric population, have been well described and classified. These lesions are usually benign and commonly present as a painless mass. The most common lesions are epidermoid, dermoid, and Langerhans cell histiocytosis. Cranial fasciitis, encountered less frequently, is usually not considered in this differential diagnosis. Given such few cases reported, it is commonly misdiagnosed preoperatively. The authors retrospectively reviewed data obtained in 4 patients with cranial fasciitis in whom the diagnosis was based on histopathological findings. In 2 patients the onset of the lesion was spontaneous. One patient had a lesion 4 months following a vacuum extraction and subsequent cephalohematoma formation. One patient developed a lesion following a previous craniectomy. Presentation, imaging studies, and histopathological findings were all reviewed and analyzed. All patients presented with a firm nontender mass. Radiological features included a lytic bone lesion with a mildly sclerotic margin, T1 isodensity, T2 heterogeneous hyperdensity, and heterogeneous enhancement. The enhancing portion was not bright on T2-weighted MR images, likely representing the fibrous component; the nonenhancing portion was bright on T2-weighted images, likely representing the myxoid matrix. Histopathological examination revealed proliferating fibroblasts in a myxoid matrix. Cranial fasciitis is a benign, painless but rapidly growing lesion of the skull mainly limited to the pediatric population. It is histologically similar to nodular fasciitis, a fibroblastic proliferation of varying size. These lesions are often related to trauma but can also be insidious or can develop at a prior craniectomy site. The appropriate clinical picture and distinguishing radiographic features may help to differentiate cranial fasciitis from other lesions of the skull allowing for earlier intervention.
 ...
PMID:Diagnosing cranial fasciitis based on distinguishing radiological features. 1897 10

The case of a 10-year old female child is described with a history of myeloproliferative disorder having skin, bone and visceral involvement. Bone marrow biopsy revealed histiocytosis X. During chemotherapy necrotizing fasciitis of the lower abdominal wall was diagnosed. Multiple microbiological cultures taken from the wound base revealed Pseudomonas aeruginosa infection. Surgical necrectomy and application of negative pressure wound therapy (NPWT) was started together with intensive care treatment for sepsis. As both wound and general condition of the patient improved, autologous split thickness skin grafting was carried out in two sitting under continuing NPWT application. The applied skin grafts showed excellent take, the perilesional subcutaneous recesses resolved and complete healing was achieved after 28 days of NPWT treatment. Proper dermatological diagnosis and immediate escharectomy complemented with application of NPWT can be life-saving in the treatment of necrotizing fasciitis.
...
PMID:Excessive pediatric fasciitis necrotisans due to Pseudomonas aeruginosa infection successfully treated with negative pressure wound therapy. 2603 96

Bone and soft-tissue sarcomas comprise a rare, complex, and heterogeneous group of tumors for which it is difficult for even experienced pathologists to provide a conclusive diagnosis. The number of diagnoses made using genetic analysis has increased since the detection of fusion genes in several soft-tissue tumors in the 1990s. Moreover, other specific genetic aberrations have been reported in various bone and soft-tissue tumors. In addition, molecular therapeutic targets have been sought in advanced cases of soft-tissue and bone tumors similar to other organ malignancies. To enable the pathological diagnosis of bone and soft-tissue tumors, it is necessary to combine histological diagnosis with immunohistochemistry and gene analysis findings including fusion gene or other genetic aberrations. In this review, we describe the fusion genes recently reported in bone and soft-tissue tumors such as solitary fibrous tumor, aneurysmal bone cyst, nodular fasciitis, CIC-DUX4 fusion gene-positive small round cell tumors, or BCOR-CCNB3-positive sarcoma as well as other genetic aberrations in dedifferentiated liposarcoma, malignant rhabdoid tumor, cartilaginous tumor, Langerhans cell histiocytosis chondroblastoma, or giant cell tumor of the bone. We also demonstrate their association with pathological diagnosis.
 ...
PMID:[Genetic Aberration and Pathological Diagnosis in Bone and Soft-Tissue Tumors]. 2706 46