4. Hrvatski kongres kliniËke citologije 4th Croatian Congress ... - Penta

4. Hrvatski kongres kliniËke citologije / 1. Hrvatski simpozij analitiËke citologije / 2. Hrvatski simpozij citotehnologije
ROLE OF CYTOLOGY IN CHILDHOOD DISEASES
Kardum-Skelin I, Šušterčić D, Jelić-Puškarić B, Milas M
Merkur University Hospital, Zagreb, Croatia
84
Klinička citologija - Usmena predavanja
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.
ikardum@hi.t-com.hr