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Molecular Diagnostics in Pediatric Cytopathology

  • Maren Y. Fuller
  • Sara E. MonacoEmail author
Chapter

Abstract

Given that pediatric malignancy is rare, most pediatric fine-needle aspiration (FNA) biopsies will be benign. Of pediatric malignancies, the most common are hematolymphoid malignancies, central nervous system (CNS) tumors, neuroblastoma, and Wilms’ tumor. Leukemias and CNS tumors are unlikely to be encountered by the cytopathologist, so this chapter will focus on pediatric lymphomas and solid organ malignancies, particularly those in which molecular studies play an important role. When evaluating a pediatric FNA, it is important to consider collecting material for ancillary studies including cell block, flow cytometry, cytogenetics, fluorescence in situ hybridization (FISH), molecular testing, as well as fresh frozen tissue, especially in the setting of a potentially neoplastic process. There are three main cytomorphologic patterns that will help guide your workup and differential diagnosis, including small round blue cell morphology (both lymphoid and nonlymphoid), large epithelioid morphology, and spindle cell morphology. Although many diagnoses can be made using a combination of cytomorphology and immunohistochemical stains, there are several pediatric malignancies that require molecular studies for prognosis, therapeutic decisions, and/or definitive diagnosis or subtyping.

Keywords

Biopsy Children Core-needle biopsy Cytology Cytopathology Fine-needle aspiration FISH Fluorescence in situ hybridization FNA In situ hybridization Molecular Pathology Pediatric Rapid on-site evaluation ROSE Small biopsy 

Abbreviations

BRAF

v-Raf murine sarcoma viral oncogene homolog B

CNS

Central nervous system

CSF

Cerebrospinal fluid

ECD

Erdheim-Chester disease

FFPE

Formalin-fixed paraffin-embedded

FISH

Fluorescence in situ hybridization

FNA

Fine-needle aspiration

IGH

Immunoglobulin heavy chain

IHC

Immunohistochemistry

LCH

Langerhans cell histiocytosis

NGS

Next-generation sequencing

PCR

Polymerase chain reaction

PTC

Papillary thyroid carcinoma

RPMI

Roswell Park Memorial Institute

Notes

Acknowledgments

Special thanks to all of the staff in the UPMC molecular pathology and ISH/FISH laboratories for their assistance with the preparation of the images in this chapter.

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of PathologyChildren’s Hospital of Pittsburgh of University of Pittsburgh Medical Center (UPMC)PittsburghUSA
  2. 2.Department of PathologyUniversity of Pittsburgh Medical Center, Children’s Hospital of Pittsburgh of UPMCPittsburghUSA

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