Exam #3: Diseases of Childhood & Infancy III Flashcards
What are the four different types of fibrous tumors in infants?
- Infantile myofibromatosis
- Aggressive infantile fibromatosis
- Infantile digital fibroma
- Congenital infantile fibrosarcoma
What is an infantile myofibromatosis?
Benign fibrous tumor in which cells express muscle-specific actin
*****This is the most common fibrous tumor in infants
What is an aggressive infantile fibromatosis?
Myofibroblast tumor that infiltrates skeletal muscle
**Note that despite infiltration, this is a benign tumor b/c it does not metastasize
What is a fibrosarcoma?
Malignant fibrous tumor in infants
What is a teratoma?
Germ cell neoplasm
- Most are sacrococcygeal
- Contain multiple different types of tissue
What is the most common solid tumor in the newbown? What sex is it more common in?
- Teratoma
- Girls
*****Benign mostly, ~10 % are malignant
What is the most common SOLID congenital MALIGNANCY?
Congenital neuroblastoma
*****Note this is vs. Teratoma, which is the most common benign solid tumor
Describe the microscopic appearance of a teratoma.
Contain multiple germ layers i.e.
- Epithelial cells
- Fibroblasts
- Cartilage
What is the second leading cause of death in kids 5-14?
Malignancy
**Note that accidents are the leading cause of death in kids from 5-14
What is a neuroblastoma?
Malignant tumor of primitive sympathetic cells (derived from primordial neural crest cells)
- Mainly from adrenal medulla & sympathetic ganglia
- 10 % of childhood cancer
**This is the most common malignant solid tumor in kids
Describe the clinical presentation of a neuroblastoma.
1) Abdominal mass
- 40% are tumors of the adrenal medulla
- 25% paravertebral sympathetic chain in the abdomen
2) Weight loss
3) Respiratory distress
4) Proptosis
5) Periorbital ecchymosis
**Note that proptosis & periorbital ecchymosis are a fxn of the periorbital region being a common metastatic site
What are the three major sources of childhood malignancies?
1) Hematopoietic
2) Nervous
3) Renal
4) Adrenal
What is “blueberry muffin baby” pathognomonic for?
Neuroblastoma–this is most commonly seen in neonates where disseminated neuroblastomas have invaded the skin causing a deep blue discoloration
What is proptosis?
Bulging eye
What is the most common primary malignant tumor of the kidney in children?
Wilms tumor
How is neuroblastoma diagnosed?
- Increased catecholamines in blood or catecholamine metabolites in urine
- Blood neuron-specific enolase (NSE)
- Tumor/ bone marrow biopsy for NSE staining
What are the catecholamine metabolites found in urine?
- Vanillylamandelic acid (VMA)
- Homovanillic acid (HVA)
What is “blueberry muffin baby” pathognomonic for?
Neuroblastoma
What are the different syndromes associated with Wilms tumors?
WAGR syndrome
- Aniridia (no iris)
- Genital anomalies
- Retardation
Denys-Drash Syndrome
- Nephropathy leading to renal failure
- Gonadal dysgenesis (male pseudohermaphroditism)
- Gonadoblastoma
What are the hallmarks of neuroblastoma on microscopy?
1) Small blue round cells
2) Rosette structure
3) Dense core neurosecretory granules*
*EM
What is the most common primary malignant tumor of the kidney in children?
Wilms tumor
What is the mutation associated with Denys-Drash Syndrome? What percent have Wilms Tumor?
WT1 (Dominant negative)
90%
What is the prognosis of Wilms Tumor?
Very good w/ nephrectomy & chemotherapy
What are the clinical manifestations of a Wilms Tumor?
Abdominal mass
Hematuria
Fever
HTN
What are the two most common tumors that present as a mass in a child? What are the clinical implications?
Neuroblastoma
Wilms tumor
*Must differentiate with imaging or biopsy & need to evaluate function of contralateral kidney
Describe the microscopic appearnace of a Wilms tumor. How does it differ from neuroblastoma?
Tightly packed blue cells with blastemal component & interspersed primitive tubules
**NOT ROSETTE
What is the mutation associated with WAGR Syndrome? What percent have Wilms Tumor?
Del 11p13 WT1
- 33%
What is the mutation associated with Denys-Drash Syndrome? What percent have Wilms Tumor?
WT1
90%
What is the prognosis of WIlms Tumor?
Very good w/ nephrectomy & chemotherapy
What is a Rhabdomyosarcoma?
Most common sarcoma of childhood
Describe the microscopic appearance of Embryonal Rhabdomyosarcoma.
Malignant cells ranging from primitive & round to spindled eosinophilic
What are the three subtypes of Rhabdomyosarcoma? Prognosis?
Embryonal Rhabdomyosarcoma (60%) - Sarcoma botryoides--best prognosis
Aleolar Rhabdomyosarcoma (20%)
Pleomprphic Rhabdomyosarcoma (20%) - worst prognosis
Describe the microscopic appearance of Embryonal Rhabdomyosarcoma.
Malignant cells ranging from primitie & round to spindled eosinophilic
How is rhabdomyoblastic differentation confirmed?
IHC staining for myogenin
Describe the microscopic appearance of Aleolar Rhabdomyosarcoma.
Tumor is tavered by a network of fibrous septae that divide the cells into clusters or aggregates creating the appearnce of a pulmonary alveoli
Describe the microscopic appearance of Pleomprphic Rhabdomyosarcoma.
Numerous large bizarre eosinophilic tumor cells
What are the features of Fetal Alcohol Syndrome?
- Growth Retardation
- Microcephaly
- Short palpebral fissures
- Maxillary hypoplasia
- Atrial septal defect
What is a NTD?
Neural tube defect= opening in the spinal cord or brain early in development
What dietary supplement is associated with reducing NTD?
Folic acid supplementation
How do you screen for a NTD?
Maternal AFP
What is the indicator for fetal lung maturity?
Surfactat
What do you test to tell fetal lung maturity?
Fetal amniotic fluid–L/S ratio i.e. Lecithin-sphingomyelin ratio
