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Role of Cytology in Childhood Diseases

Diseases of childhood pose a diagnostic challenge to cytologists. Lysosomal storage diseases comprise a large group of congenital disorders including Gaucher’s disease, Niemann-Pick disease, Farber’s disease, etc. At cellular level, foam cells can be identified in circulating blood and reticuloendothelial system of bone marrow, liver and spleen. Cytomorphologically, large histiocytes contain striated rod-shaped inclusion bodies that give it a wrinkled paper or crumpled silk appearance. Gaucher cells, sea blue histiocytes are found in bone marrow preparation in patients with Niemann-Pick disease and other systemic lipidoses. Foam cell staining properties (cytochemical or immunocytochemical reaction) may differ in various storage diseases. Langerhans cell histiocytosis (dendritic cell histiocytosis, erythrophagocytic macrophage disorders, malignant histiocytosis, congenital self-healing form called Hashimoto-Pritzker disease, etc.) is a group of idiopathic disorders characterized by the proliferation of immunophenotypically and functionally immature, morphologically rounded Langerhans cells along with eosinophils, macrophages, lymphocytes, and commonly, multinucleated giant cells. Dendritic cell histiocytosis includes Letterer-Siwe disease, eosinophilic granulomas, and Hand- Schüller-Christian disease. Fine-needle aspiration (large, ovoid, mononuclear cells, with folded nuclei, discrete nucleoli, and a moderate amount of slightly homogeneous cytoplasm) combined with immunocytochemistry (S-100 protein, CD1a, CD207) of cytologic smears plays an important role in demonstrating organ involvement by Langerhans cell histiocytosis. Acute lymphoblastic leukemia (ALL) is primarily a disease of children ; 75% of cases occur in children under six years of age. Cytomorphologically, lymphoblasts are typically small, medium-sized to large blasts (of B or T origin), involving bone marrow and blood (ALL) or presenting with primary involvement of thymus, lymph node, spleen or extranodal sites (lymphoblastic lymphoma). B lymphoblastic leukemia/lymphoma with t(v ; 11q23) - MLL rearranged ; B lymphoblastic leukemia/ lymphoma with t(12 ; 21)(p13 ; q22) - TEL-AML1 (etv6-RUNX1) ; B lymphoblastic leukemia/ lymphoma/lymphoma with hyperdiploidy ; B lymphoblastic leukemia/lymphoma with T(1 ; 19)(Q23 ; P13.3) - E2A-PBX1 (TCF3-PBX1) are common leukemias in children. There are no unique morphological, cytochemical or immunophenotypical features to distinguish these types of ALL. Over the last few years, fine needle aspiration cytology (FNAC) has been used more extensively in the diagnosis of pediatric solid tumors. The most common solid tumors of childhood are small round cell tumors (SRCT) that include Ewing sarcoma/primitive neuroectodermal tumor, Wilm’s tumor, neuroblastoma, malignant lymphoma, rhabdomyosarcoma, and desmoplastic small round cell tumor. These tumors of different origin are a heterogeneous group of malignant neoplasms that are very similar in their histologic and cytologic appearance with undifferentiated, uniform, small round cells with big, hyperchromatic nuclei. The diagnosis of SRCT can be made accurately by applying clinicopathological criteria and a panel of immunocytochemical and genetic studies in appropriate cases. FNAC interpretation of childhood disease is easy when cytologic findings are correlated with relevant cytochemical, immunocytochemical, genetic and clinical data.

Diseases of childhood; fine needle aspiration cytology

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