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)

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.
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PMID:The role of fine-needle aspiration biopsy in the initial diagnosis of pediatric bone and soft tissue tumors: an institutional experience. 979 16

The study was performed to compare whole-body short time inversion recovery (STIR) MR imaging and (99m)Tc-methylene diphosphonate planar scintigraphy in the examination of children with suspected multifocal skeletal malignant lesions. Sixteen patients with known or suspected malignant skeletal disease underwent both whole-body STIR MR imaging and bone scintigraphy. The lesions were described and numbered according to scintigraphic evaluation criteria. Thus, 16 regions were analyzed in each patient for the comparison between the two modalities. Histology was proven in the primary malignant regions. Follow-up MRIs were registered. Scintigraphy and MRI follow-up were evaluated as gold standard. A total of 139 different lesions was observed by both modalities. Baseline whole-body MRI revealed 119 bone lesions in 256 possible sites (46.5%); scintigraphy revealed only 58 lesions (22.6%). Congruence was observed in only four patients (25%). According to the location of the lesion, correlation was observed in 39/139 lesions (28%). In all, 57.5% of the lesions were detected only by MRI and 14.5% of the lesions were detected only by scintigraphy. Whole-body MRI was more sensitive (P<0.001). Of all lesions numbered which could be separated in the initial MRI, whole-body MRI detected 178 lesions in the patients. The results suggest that whole-body MRI using a STIR sequence is an effective radiation free method for examination of children with suspected multifocal bone lesions. MRI showed more lesions than conventional (99m)Tc-methylene diphosphonate scintigraphy. Therefore, whole-body MRI may be feasible as a screening modality for metastatic and skip lesions in osteosarcoma, PNET, Ewing sarcoma and Langerhans cell histiocytosis in children.
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PMID:Comparison of whole-body STIR-MRI and 99mTc-methylene-diphosphonate scintigraphy in children with suspected multifocal bone lesions. 1524 16

A total of 135 pediatric head and neck tumors diagnosed in our institute were reviewed with a view to elucidate the overall cytological patterns and analyze the important cytological features. Ninety-four tumors (69.6%) were aspirated for a primary diagnosis, and in 41 (30.4%) cases, fine-needle aspiration cytology was performed to document relapse, recurrence or a metastasis. Among the 94 tumors aspirated for a primary diagnosis, 66 cases (70.2%) were accurately diagnosed, in 22 cases (23.4%) a broad working diagnosis was offered, and 6 cases (6.4%) were misdiagnosed. The accuracy rate was higher (79.3%) when relapse-recurrent and metastatic tumors were included. The smears were broadly divided into six patterns, viz. round cell, epithelial, anaplastic, giant cell, mixed inflammatory, and spindle cell patterns. The round cell pattern was the most frequent one encountered in this group. The cytological features that stood the test of variability were lymphoglandular bodies and a noncohesive cell population in hematolymphoid malignancies, pale chromatin and cytoplasmic vacuoles in primitive neuroectodermal tumor/Ewing's sarcoma (PNET/ES), neuropil and rosettes in neuroblastoma, and plasmacytoid rhabdomyoblasts in rhabdomyosarcoma. A fairly good accuracy was seen in the diagnosis of metastatic undifferentiated carcinoma and anaplastic lymphoma, but the giant-cell and spindle-cell tumors continued to pose a problem in diagnosis. Ancillary techniques such as immunocytochemistry and electron microscopy applied in limited cases helped evaluate Langerhans cell histiocytosis, alveolar rhabdomyosarcoma, and the PNET/ES family of tumors.
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PMID:Cytological evaluation of head and neck tumors in children--a pattern analysis. 1668 Jul 71

Bone tumors are fortunately rare, but small cell tumors of bone are a relatively common subset of these lesions. They comprise of a diverse group of primary and metastatic neoplasms in both children and adults. The most common small cell tumors of bone include Ewing sarcoma/primitive neuroectodermal tumor, small cell osteosarcoma, multiple myeloma, lymphoma, leukemia, neuroblastoma, rhabdomyosarcoma, and Langerhans cell histiocytosis. Although each entity has its distinctive features, the differential diagnosis of this group of tumors is still challenging because they are all "small, blue, and round cell tumors", histologically. The correct diagnosis of small cell tumors of bone depends on an evaluation of clinical, radiologic, pathologic, and genetic features. Patients' age and sex are very important, as are the signs and symptoms at presentation. Radiologically, which bone is involved, the specific portion of the bone (epiphysis, metaphysis, or diaphysis; cortex vs. medulla) involved, and the radiographic manifestations (lytic, blastic, or mixed lytic and blastic) are also often critical parameters for the diagnosis. In recent years, with a better understanding of the molecular and cytogenetic background of several small cell tumors, more accurate diagnoses have been supported by the clinicopathologic criteria and by a panel of immunohistochemical studies. In this review we will provide an overview of the clinical, radiologic, pathologic, and genetic characteristics of these tumors.
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PMID:Small cell tumors of bone. 2003 33

Two hundred eight neonates with malignant tumors and cutaneous metastases were reviewed. Malignancies most often associated with cutaneous metastases, in order of rank, were leukemia, multisystem Langerhans cell histiocytosis, neuroblastoma, rhabdoid tumor, rhabdomyosarcoma, primitive neuroectodermal tumor, choriocarcinoma, and adrenocortical carcinoma. Bluish skin nodules producing the "blueberry muffin baby"-like appearance were the most common dermatologic finding in 171, or 82% of 208 neonates. The tendency of newborns to present with skin nodules is one of the significant differences between malignancies in younger and older children. Patients with rhabdoid tumor and rhabdomyosarcoma had the lowest survival rates, 4% and 15%, respectively, compared with leukemia, 37.5%, and neuroblastoma, 58%. Overall survival was 39%.
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PMID:Cutaneous metastases in neonates: a review. 2150 42

Intracranial tuberculoma in infants are a rare occurrence. We report a 7-month-old male infant presenting to our tertiary care referral center with complaints of global developmental delay and right hemiparesis for 3 months. Radiologic imaging was suggestive of large left frontoinsular space-occupying lesion with initial differential of primitive neuroectodermal tumor or desmoplastic infantile ganglioglioma. Considering the clinicoradiologic findings and no history suggestive of immunodeficiency or contact with tuberculosis, surgical decompression was done. Final histopathology revealed multiple epithelioid granulomas suggestive of tubercular etiology or intracranial Langerhans cell histiocytosis. He was started on antitubercular therapy after ruling out Langerhans cell histiocytosis using CD1a and Langerin immunohistochemistry staining. Interpretation of tuberculous etiology in infants can be challenging for clinicians, radiologists, and pathologists. A high index of suspicion is necessary to diagnose such lesions, predominantly in endemic regions.
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PMID:A case of giant intracranial tuberculoma in an infant: clinical and radiologic pitfalls. 2483

Round cell tumors of bone are a divergent group of neoplasms that largely constitute Ewing sarcoma/primitive neuroectodermal tumor, small cell osteosarcoma, Langerhans cell histiocytosis, mensenchymal chondrosarcoma, and hematopoietic malignancies including lymphoma and plasmacytoma/myeloma, along with metastatic round cell tumors including neuroblastoma, rhabdomyosarcoma, and small cell carcinoma. These lesions share many histomorphologic similarities and often demonstrate overlapping clinical and radiologic characteristics, but typically have a diverse clinical outcome, thus warranting differing therapeutic modalities/regimens. Recent advances in molecular and cytogenetic techniques have identified a number of additional novel entities, including round cell sarcomas harboring CIC-DUX4 and BCOR-CCNB3 fusions, respectively. These novel findings have not only enhanced our understanding of the pathogenesis of round cell tumors, but also allowed us to reclassify some entities with potential therapeutic and prognostic significance. This article provides an overview focusing on recent molecular genetic advances in primary, nonhematologic round cell tumors of bone.
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PMID:Round cell tumors of bone: an update on recent molecular genetic advances. 2510 37

The occurrence of second malignant neoplasms in patients with Langerhans cell histiocytosis is infrequent but has been reported. Here we report the case of a child with refractory Langerhans cell histiocytosis who was treated with cladribine and later developed a secondary intracranial primitive neuroectodermal tumor. The possible association of cladribine with second neoplasm is further discussed.
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PMID:Refractory LCH With Secondary Intracranial PNET: A Case Report and Review of Literature. 2885 38