Childhood diseases III Flashcards
What are the four major types of fibrous tumors in infancy? Which one is malignant?
- Infantile myofibromatosis
- Aggressive infantile fibromatosis
- Infantile digital fibroma
- Congenital infantile fibrosarcoma = malignant
Can behavior of a tumor be predicted on histology alone?
no
What is the most common fibrous tumor in infants?
Infantile myofibromatosis
What are the histologic characteristics of of infantile myofibromatosis? What marker do they have with immunochemistry?
Non-pleomorphic, spindle shaped
Muscle specific actin
What distinguishes a benign infantile fibromatosis from an aggressive one?
RBC infiltration
What are the histologic characteristics of a malignant fibrosarcoma?
High grade atypia and high mitotic index
What is the incidence of teratomas
1/20,000-40,000
What is the source of a teratoma?
Single, polypotent cell
What is the most common SOILD tumor (malignant or not) of childhood?
Teratoma
Most teratoma are where? In which gender?
Sacrococcygeal in girls
What percent of teratomas are associated with congenital malformations?
10%
What is the presentation of myofibromatosis?
Benign fibrous tumors in which the cells express muscle specific actin
What percent of teratomas are malignant
12%
What are the histologic characteristics of teratomas? (3)
Epithelial cells, (endoderm) fibroblasts, and cartilage (mesoderm) all in a teratoma
Teratoma are from how many germ layers? (see slide)
2 or 3
What is the prognosis for teratomas?
Malignancy in 12%
What are the origins of most childhood malignancies? (3)
Hematopoietic
Nervous
Renal/adrenal
Malignancy occur in what percent of teratoma with immature tissue microscopically?
10-12%
Why do childhood cancers have a better prognosis than adult cancers?
Chance of spontaneous regression
What are the complications of teratomas?
Depends on location
What is the most common fibrous tumor in infants?
Infantile myofibromatosis
Childhood malignancies have a relationship with what?
Developmental abberations
What is increased in the blood/urine of infants with neuroblastomas?
Increase catecholamines (VMA and HVA)
Neuroblastomas are from what cells?
Primitive sympathetic cells/adrenal medulla
What are the three histological characteristics of neuroblastomas?
- Small blue round cells w/ little cytoplasm
- Rosette structure
- Dense neurosecretory granules (under EM)
What percent of all childhood CAs are neuroblastomas?
10%
How can you see the dense neurosecretory granules in neuroblastoma? What are contained within these?
Electronic microscope
Catecholamines
What is Wilms tumor?
most common primary malignant tumor of the kidney in children
What is the most common fibrous tumor in infants?
Infantile myofibromatosis
What are the histologic characteristics of of infantile myofibromatosis? What marker do they have with immunochemistry?
Non-pleomorphic, spindle shaped
Muscle specific actin
What is increased in the blood/urine of infants with neuroblastomas?
Increase catecholamines
What distinguishes a benign infantile fibromatosis from an aggressive one?
RBC infiltration
What are the histological characteristics of a Wilms tumor?
Tightly packed blue cells with the blastemal component and interspersed primitive tubules
What happens to the adrenal glands in neuroblastomas?
Hyperplasia
What are the three histological characteristics of neuroblastomas?
- Small blue round cells
- Rosette structure
- Dense neurosecretory granules
What are the histologic characteristics of a fibrosarcoma?
High grade atypia and high mitotic index
What is the rosette structure?
Round structures histologically
What is the prognosis for Wilms tumor? When is it really bad?
Very good with nephrectomy and chemo
bad if metastases or diffuse anaplasia
How can you seen the dense neurosecretory granules in neuroblastoma? What are contained within these?
Electronic microscope
Catecholamines
What is Wilms tumor associated with?
Mutations and congenital malformations
What do you have to differentiate between if you see an infant with CA causing a distended abdomen? How?
Neuroblastoma vs Wilms tumor
Biopsy with NSE = neuroblastoma.
Small round nuclei = neuroblastoma
What is it important to check the contralateral kidney with Wilms tumor?
Don’t’ excise it if their other kidney does not work
What are the gross characteristics of a Wilms tumor?
tan to gray color, with a well circumscribed margin
What are the histological characteristics of a Wilms tumor?
Tightly packed blue cells with the blastemal component and interspersed primitive tubules
How do you differentiate between Rosette structures with Wilm tumor?
No small round cells in Wilm tumor
Most teratoma are where? In which gender?
Sacrococcygeal in girls
What is the most common cause of a **solid tumor ** (benign or malignant) in infants? Most common Malignancy?
Tumor = Sacrococcygeal teratoma
Malignancy = neuroblastoma
What are the most common sites of rhabdomyosarcomas?
Head and neck
GU tract
What is Sarcoma botryoides?
A subtype of embryonal rhabdomyosarcoma that develops in walls of hollow, mucosal lined structures such as the nasopharynx. This has the best prognosis of all rhabdomyosarcomas.
Malignancy occur in what percent of teratoma with immature tissue microscopically?
10-12%
Childhood malignancies have a chance of doing what?
Spontaneous Regression
What are the complications of teratomas?
Depends on location
Childhood malignancy is the (BLANK) leading cause of death in age 5-14?
second
Childhood malignancies have a relationship with what?
Developmental abberations
What is increased in the blood/urine of infants with neuroblastomas?
Increase catecholamines (VMA and HVA)
What is the tissue marker for neuroblastoma in the blood?
Neuron specific enolase (NSE)
Neuroblastomas are from what cells?
Primitive sympathetic cells/adrenal medulla
What are the three histological characteristics of neuroblastomas?
- Small blue round cells w/ little cytoplasm
- Rosette structure
- Dense neurosecretory granules (under EM)
How can you see the dense neurosecretory granules in neuroblastoma? What are contained within these?
Electronic microscope
Catecholamines
What is Wilms tumor?
most common primary malignant tumor of the kidney in children
How do neuroblastomas present? (4)
Abdominal mass
Weight loss
Proptosis
Periorbital ecchymosis
IN an infant: Abdominal mass Diarrhea Weight loss Proptosis Periorbital ecchymosis = ?
Neuroblastoma
What is increased in the blood/urine of infants with neuroblastomas?
Increase catecholamines
What is the tissue marker for neuroblastoma?
Neuron specific enolase
Blueberry muffin baby = ?
Neuroblastoma
What are the histological characteristics of a Wilms tumor?
Tightly packed blue cells with the blastemal component and interspersed primitive tubules
What happens to the adrenal glands in neuroblastomas?
Hyperplasia
What are the three histological characteristics of neuroblastomas?
- Small blue round cells
- Rosette structure
- Dense neurosecretory granules
What is WAGR syndrome? What causes it?
Aniridia
MR
Germline deletion 11p13 in WT1
- Small blue round cells
- Rosette structure
- Dense neurosecretory granules
= ?
Neuroblastoma
What is the rosette structure?
Round structures histologically
What is the prognosis for Wilms tumor? When is it really bad?
Very good with nephrectomy and chemo
bad if metastases or diffuse anaplasia
How can you seen the dense neurosecretory granules in neuroblastoma? What are contained within these?
Electronic microscope
Catecholamines
What is Wilms tumor associated with?
Mutations and congenital malformations
What are the three subtypes of rhabdomyosarcomas? Which has the worst prognosis? Best?
Embryonal rhabdomyosarcomas (60% of cases) = best
Alveolar rhabdomyosarcomas
Pleomorphic rhabdomyosarcomas = worst
What is the gene that is mutated in Wilms tumor?
WT1
What is the clinical presentation of Wilms tumor?
Abdominal mass
Hematuria
HTN
What are the two congential malformations associated with Wilms syndrome?
- WAGR syndrome
2. Denys-drash syndrome
What is Denys-drash syndrome? What genetic mutation causes it?
Wilm’s tumor +
Nephropathy
Gonadal dysgenesis
WT1 mutation
What percent of Wilms tumors have denys-drash syndrome? WAGR syndrome?
90%
33 %
What is the marker for NTDs?
Alpha Fetoprotein (AFP)
What is the prognosis for Wilms tumor? When is it really bad?
Very good with nephrectomy and chemo
bad if metastases
How do you differentiate between Rosette structures with Wilm tumor?
No small round cells in Wilm tumor
What is the most common SARCOMA of childhood?
rhabdomyosarcomas
What are the two congential malformations associated with Wilms syndrome?
- WAGR syndrome
2. Denys-drash syndrome
What are rhabdomyosarcomas?
a type of cancer, specifically a sarcoma (cancer of connective tissues), in which the cancer cells are thought to arise from skeletal muscle progenitors. It can also be found attached to muscle tissue, wrapped around intestines, or in any anatomic location. It mostly occurs in areas naturally lacking in skeletal muscle, such as the head, neck, and genitourinary tract.
What is the most common sarcoma of childhood?
rhabdomyosarcomas
What are the three types of rhabdomyosarcomas? Which has the worst prognosis? Best?
Embryonal rhabdomyosarcomas = best
Alveolar rhabdomyosarcomas
Pleomorphic rhabdomyosarcomas = worst
What are the histological characteristics of an embryonal rhabdomyosarcomas?
Malignant cells ranging from primitive and round to spindled and eosinophilic
What are the histological characteristics of alveolar rhabdomyosarcomas?
tumor is traverse by a network of fibrous septae
Cells in the center are discohesive, while those are the periphery adhere to the septae
Tumor cells are uniform round with little cytoplasm
What are the histological characteristics of pleomorphic rhabdomyosarcomas?
Numerous large, sometimes multinucleated bizarre eosinophilic tumor cells.
What is the marker for rhabdomyocytes?
Myogenin
What is the treatment for rhabdomyosarcomas?
Surgery + chemo/radiation
What percent of children diagnosed with rhabdomyosarcomas survive 5 years?
50%
Fetal EtOH syndrome (FAS) = what 5 signs?
- MR
- Microcephaly
- Short palpebral fissures
- Maxillary hypoplasia
- ASDs
Can FAS have epicanthal folds?
Yes, just like Down
What are neural tube defects?
AN opening in the spinal cord or brain that occurs very early in human development
What vit deficiency is associated with NTDs?
Folic acid
What is the marker for NTDs?
AFP
What is the indicator of fetal lung maturity?
Surfactant (lecithin-sphingomyelin ratio)
What are the three types of teratomas?
(1) benign teratomas containing well-differentiated, adult tissue
(2) immature teratomas containing embryonic tissue that is not frankly malignant
(3) malignant teratomas.
True or false: Malignant tumors in children tend to regress, differentiate, and respond better to treatment
True
What are neuroblastomas?
A malignant tumor arising from primitive sympathetic cells
What is the most important clinical marker for neuroblastoma?
N-myc amplification
What are the two catecholamine derivatives, and one other cytokine that are elevated in Neuroblastoma?
homovanillic acid [HVA]
vanillylmandelic acid [VMA])
serum neuron-specific enolase
What is stage 1, 2A, and 2B of neuroblastoma?
The tumor is localized, and contralateral lymph nodes are not invaded
What is stage 4S of Neuroblastoma? Prognosis?
defined as a small primary tumor in the abdomen or thoracic cavity, with metastasis in the liver or bone marrow and skin (or both) (not in the cortical bone), in infants
Wilms tumor is frequently associated with what?
beta-catenin mutations
What are the clinical features of Wilm’s tumor? Prognosis?
Abdominal enlargement, mass, pain.
Prognosis depends on the histology of the tumor, but generally good
What is the most common soft tissue sarcoma in children?
Rhabdomyosarcoma
What is sarcoma botryoides? Prognosis?
A subtype of embryonal rhabdomyosarcoma–best prognosis of all the rhabdomyosarcomas
What is the cell marker (stain) for rhabdomyosarcoma?
myogenin
