Principles of Diagnosis

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Chapter 487 Principles of Diagnosis

Childhood cancer is uncommon and can manifest with symptoms seen with benign illnesses. The challenge for the pediatrician is to be alert to the clues suggesting a diagnosis of cancer. In addition to the classic manifestations, any persistent, unexplained symptom or sign should be evaluated as potentially emanating from a cancerous or precancerous condition. As part of the diagnostic evaluation, the pediatrician and pediatric oncologist must convey the possible diagnosis to the patient and family in a sensitive and informative manner.

Signs and Symptoms

The symptoms and signs of cancer are variable and nonspecific in pediatric patients. The types of cancer that occur during the first 20 yr of life vary dramatically as a function of age—more so than at any other comparable age range (Chapter 485). Unlike cancers in adults, childhood cancers usually originate from the deeper, visceral structures and from the parenchyma of organs rather than from the epithelial layers that line the ducts and glands of organs and compose the skin. In children, dissemination of disease at diagnosis is common, and presenting symptoms or signs are often caused by systemic involvement. Pain was one of the initial presenting symptoms in more than 50% of children with cancer in one study. Infants and young children cannot express or localize their symptoms well. Another factor is the variability in the physiology and biology of the host related to growth and development during infancy, childhood, and adolescence.

The signs of cancer in children often are often attributed to other causes before the malignancy is recognized. Delays in diagnosis are particularly problematic during late adolescence and are due to a variety of factors prominent in this age group, including loss of health insurance coverage.

Although there is no clearly established set of warning signs of cancer in young people, the most common cancers in children suggest some guidelines that may be helpful in early recognition of signs and symptoms of cancer (Tables 487-1, 487-2, 487-3). Most of the symptoms and signs are not specific and might represent other possibilities in a differential diagnosis. Nonetheless, these hints encompass the common cancers of childhood and have been very useful in early detection.

Table 487-2 COMMON MANIFESTATIONS OF CHILDHOOD MALIGNANCIES

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SIGNS AND SYMPTOMS SIGNIFICANCE EXAMPLE
HEMATOLOGIC
Pallor, anemia Bone marrow infiltration Leukemia, neuroblastoma
Petechiae, thrombocytopenia Bone marrow infiltration Leukemia, neuroblastoma
Fever, persistent or recurrent infection, neutropenia Bone marrow infiltration Leukemia, neuroblastoma
SYSTEMIC
Bone pain, limp, arthralgia Primary bone tumor, metastasis to bone Osteosarcoma, Ewing sarcoma, leukemia, neuroblastoma
Fever of unknown origin, weight loss, night sweats Lymphoma Hodgkin and non-Hodgkin lymphoma
Painless lymphadenopathy Lymphoma, metastatic solid tumor Leukemia, Hodgkin lymphoma, non-Hodgkin lymphoma, Burkitt lymphoma, thyroid carcinoma
Abdominal mass Adrenal, renal, or lymphoid tumor Neuroblastoma, Wilms tumor, lymphoma
Hypertension Renal or adrenal tumor Neuroblastoma, pheochromocytoma, Wilms tumor
Diarrhea Vasoactive intestinal polypeptide Neuroblastoma, ganglioneuroma
Soft tissue mass Local or metastatic tumor Ewing sarcoma, osteosarcoma, neuroblastoma, thyroid carcinoma, rhabdomyosarcoma, Langerhans cell histiocytosis
Diabetes insipidus, galactorrhea, poor growth Neuroendocrine involvement of hypothalamus or pituitary gland Adenoma, craniopharyngioma, prolactinoma, Langerhans’ cell histiocytosis
Emesis, visual disturbances, ataxia, headache, papilledema, cranial nerve palsies Increased intracranial pressure Primary brain tumor; metastasis
OPHTHALMOLOGIC SIGNS
Leukokoria (white pupil) Retinal mass Retinoblastoma
Periorbital ecchymosis Metastasis Neuroblastoma
Miosis, ptosis, heterochromia Horner syndrome: compression of cervical sympathetic nerves Neuroblastoma
Opsomyoclonus, ataxia Neurotransmitters? Autoimmunity? Neuroblastoma
Exophthalmos, proptosis Orbital tumor Rhabdomyosarcoma, lymphoma, Langerhans cell histiocytosis
THORACIC MASS
Cough, stridor, pneumonia, tracheal-bronchial compression; superior vena cava syndrome Anterior mediastinal Germ cell tumor, non-Hodgkin lymphoma, Hodgkin lymphoma