ALK+ histiocytosis: a novel type of systemic histiocytic proliferative disorder of early infancy
| Autor: | King Chung Lee, Karin Tiedemann, William Y.W. Tsang, Chung Wo Chow, Elizabeth M. Algar, John K.C. Chan, Laurence Lamant, Georges Delsol |
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| Rok vydání: | 2008 |
| Předmět: |
Pathology
medicine.medical_specialty Langerin Juvenile xanthogranuloma Activin Receptors Type II Biopsy Immunology Hepatosplenomegaly Biochemistry Pallor hemic and lymphatic diseases Eosinophilic medicine Humans Histiocyte Cell Proliferation Skin biology CD68 Infant Newborn Infant Histiocytes Cell Biology Hematology medicine.disease Protein Transport Histiocytosis Liver biology.protein Female medicine.symptom |
| Zdroj: | Blood. 112:2965-2968 |
| ISSN: | 1528-0020 0006-4971 |
| DOI: | 10.1182/blood-2008-03-147017 |
| Popis: | We report 3 cases of a previously uncharacterized form of histiocytosis presenting in early infancy and showing ALK immunoreactivity. The patients presented with pallor, massive hepatosplenomegaly, anemia, and thrombocytopenia. Liver biopsy showed infiltration of the sinusoids by large histiocytes with markedly folded nuclei, fine chromatin, small nucleoli, and voluminous lightly eosinophilic cytoplasm that sometimes was vacuolated or contained phagocytosed blood cells. One patient developed cutaneous infiltrates that morphologically resembled juvenile xanthogranuloma. The histiocytes were immunoreactive for histiocytic markers (CD68, CD163, lysozyme), S100 protein, ALK (membranous and cytoplasmic pattern), and dendritic cell markers (fascin, factor XIIIa), but not CD1a and langerin. One case successfully analyzed by molecular techniques revealed TPM3-ALK fusion. Thus the spectrum of diseases exhibiting ALK translocation should be expanded to include ALK+ histiocytosis. The disease in the 3 patients (2 having been given chemotherapy) resolved slowly over many months. |
| Databáze: | OpenAIRE |
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