Tumors and tumor like lesions of infancy and childhood

Benign tumors and tumor like lesions Benign tumors more common than malignant tumors. Three benign tumors more common in pediatric age group Hemangiomas Lymphangiomas Teratoma Sacrococcygeal teratoma

Hemangiomas BT of blood vessels. Locations: Most are cutaneous Most common tumors in infancy. Locations: Most are cutaneous Face and scalp Significance: Cosmetic Associated with hereditary disorders Von Hippel Lindau syndrome( kidney tumors, brain tumors[hemangioblastoma) Sturge Weber syndrome (port wine stain, seizures, MR) May grow with the child Most hemangiomas regress spontaneously .

Hemangiomas Gross: Microscopic types: Flat to elevated, irregular red blue masses. Large flat lesions are called port wine stain. Microscopic types: Capillary hemangiomas: Strawberry ( juvenile capillary) hemangiomas Cavernous hemangiomas:

Capillary hemangioma After 2 years

Strawberry ( juvenile capillary) hemangiomas: a variant of capillary hemangioma commonly seen on the face in new born slightly raised, bright red, lobulated vascular tumors grow rapidly for a few months and begin regressing at age 1-3 years. 80% totally gone by 8 years No treatment necessary

Strawberry hemangioma

Lymphangioma Cystic spaces lined by endothelial cells Locations: Spaces contain pale fluid. Locations: Skin Deeper regions : neck / axilla / mediastinum/ retroperitoneum. Significance: Increase in size – may encroach on vital structures Cystic hygroma: A type of lymphangioma Occurs in the neck or axilla in children Composed of dilated lymphatic channels containing lymphatic fluid Associated with Turner syndrome (45,X karyotype)

Cystic hygroma

Teratoma Germ cell tumor Sacrococcygeal teratoma: Contain structures derived from ectoderm, mesoderm and endoderm. Sacrococcygeal teratoma: Most common germ cell tumor of childhood. Arise in the sacrococcegeal region. 10% associated with congenital anomalies: Defects of hindgut, cloacal region and midline defects (meningocele and spina bifida). Can be: Mature (benign) (majority) Younger infants (<4 months) Immature (malignant) Slightly older children.

Sacrococcygeal teratoma

Malignant tumors

Common malignant Tumors of infancy and childhood 0-4 years 5-9 years 10-14 years Leukemia Soft tissue sarcoma Neuroblastoma Osteogenic sarcoma Wilms tumor Ewing Sarcoma/PNET Thyroid carcinoma Brain tumors Hepatocellular carcinoma Hepatoblastoma Hodgkin's lymphoma Retinoblastoma Lymphoma Rhabdomyosarcoma

Malignant tumors Most common malignant tumors per system of childhood: Hematopoietic system Leukemia some lymphomas Central nervous system Astrocytoma, medulloblastoma, ependymoma Adrenal medulla: Neuroblastoma Retina Retinoblastoma Soft tissue: Rhabdomyosarcoma Bone: Ewing sarcoma, osteogenic sarcoma Kidney: Wilms tumor Leukemia accounts for more deaths in children.

Fun facts Most common organ systems involved by MT in adults: Most common organ systems involved by malignant in infancy and childhood: Hematopoietic system Neural tissue Soft tissue Most common organ systems involved by MT in adults: Lung, prostate, colon

Small round blue cell tumors Group of malignant tumors Composed predominantly of Sheets of small cells with small round blue nuclei. Examples: Neuroblastoma Lymphoma Rhabdomyosarcoma Ewing sarcoma Wilms tumor Retinoblastoma

Neuroblastoma Malignant tumor of neural crest origin MC site of origin :adrenal medulla (abdominal cavity) Posterior mediastinum Primarily seen in children <5 years of age. Median age: 2 years. 3rd or 4th most common malignancy in children Associations: Beckwith- Wiedemann syndrome & Neurfibromatosis. Genetics: deletion or rearrangement of short arm of chr 1 leading to amplification of n-myc oncogene.

More fun facts Location: Most located in adrenal medulla (abdominal cavity) Also occur in posterior mediastinum and neck. May develop anywhere along the sympathetic nervous system chain.

FISH in diagnosis Fluorescence in situ hybridization (FISH) of a probe for N-MYC Nuclei shows abundant signal (red) in a tumor cell (arrow), indicating N-MYC amplification..

Fluorescence in situ hybridization Don’t worry about this N-MYC amplification

Neuroblastoma Infant with neuroblastoma - Clinical presentation This infant has a large adrenal neuroblastoma, creating a greatly distended abdomen. There are numerous bluish subcutaneous nodules of tumor. "blueberry muffin baby." Congenital neuroblastoma is the most common solid congenital malignancy. Tumors in infants may pursue a less aggressive clinical course than tumors in older children.

neuroblastoma

Neuroblastoma Clinical findings: Palpable abdominal mass with abdominal distention Tumor cells secrete catecholamines: Diastolic hypertension Metastasis to skin and bone (most common site)

Kidney Neuroblastoma    Kidney, adrenal/renal tumor - Gross, cut surface  This image shows a large, hemorrhagic mass superior to the upper pole of the kidney. The adrenal gland cannot be seen.  

Neuroblastoma micro

Neuroblastoma Gross: Micro: Neuroblasts: Soft in consistency and invades surrounding tissue (kidney,pancreas,liver). Micro: Composed of small round blue cells (neuroblasts) and characteristic Homer Wright pseudorosettes. Neuroblasts: S100 and Neuron specific enolase (NSE) positive contain neurosecretory granules.

Neuroblastoma Differential diagnosis: ALL Wilms tumor, Ewing’s sarcoma . May spontaneously differentiate into less aggressive tumor. neuroblastoma  ganglioneuroblastoma  ganglioneuroma. Prognosis: Age of the patient is the single most important factor determining prognosis Cure rate of 85-90% under 1 year age 15-40 cure rate in older children.

Neuroblastoma Laboratory Findings: Increased Urinary Vanillylmandelic acid (VMA) Neuroblasts are S-100 positive Homovanillic Acid (HVA) (Metabolic End Product Of Dopamine)

Wilms tumor (Nephroblastoma) Most common malignant tumor of kidney in children. Occurs in children 2-5 years of age. Patients present with Unilateral palpable mass in the abdomen, abdominal pain, hematuria, hypertension and fever. Types: Sporadic (90%) Associated with congenital malformations

Wilms tumor Gross: Microscopically show: WT are large, soft, well circumscribed gray white tumors with areas of hemorrhage and necrosis 50% show invasion of renal vein. Microscopically show: Composed of small round blue cells Triphasic pattern Primitive cells (small round blue cells) = blastema Spindle cell stroma Immature tubules and glomeruli

Wilms tumor Residual kidney Kidney, Wilms tumor - Gross, cut surface  A large, tan, well-circumscribed mass greatly distorts the upper pole of the kidney.

Small round blue cells = blastemal element Primitive tubules Small round blue cells = blastemal element Kidney, Wilms tumor - High power  Epithelial and blastemal elements resemble embryonic kidney.  

Wilms tumor Clinical findings: Prognosis: Unilateral palpable mass and hypertension caused by renin secretion Prognosis: Frequently metastasize to lungs, lymph nodes Good prognosis with appropriate therapy Surgery + Chemo+ radiation.

Retinoblastoma Is the most common malignant eye tumor of childhood. Unusual tumor: Occurs as a congenital tumor Can be multifocal and bilateral Undergoes spontaneous regression Associated with second primary tumors. Occurs in two patterns: Sporadic: Familial (AD inherited disease):

Retinoblastoma Sporadic: Familial (AD inherited disease): Inactivation of both Rb suppressor genes on chromosome 13 acquired after birth. Unilateral and uni-focal Familial (AD inherited disease): One Rb gene is already inactivated, the other is inactivated after birth. Multiple tumors, often bilateral Increased risk of osteogenic sarcoma

Retinoblastoma Clinical features: Treatment: Median age at presentation is 2 years. May be present at birth. Poor vision, pain in the eye. White eye reflex when a light is shined into the eye (cat’s eye reflex = Leukokoria) Untreated tumors are fatal Treatment: Enucleation, chemo and radiotherapy. Good prognosis

Retinoblastoma

Retinoblastoma Eye, retinoblastoma - Gross, sagittal section  A large tumor fills the globe. Note the whitish calcium flecks. This is the most common malignant eye tumor of childhood. It is familial in up to 40% of cases. Familial cases are often bilateral and occur in patients at a younger age.

Rosettes Eye, retinoblastoma - High power  Numerous true rosettes (tubules with lumens) are present in this tumor, which is composed of primitive round blue cells.

Retinoblastoma Gross: Nodular mass in the eye replacing the vitreous. Micro: tumor composed of small round blue cells with large nuclei and scant cytoplasm. Characteristic structures k/a Flexner-Wintersteiner rosettes. Consist of clusters of cuboidal cells arranged around a central lumen. Metastasis: Via optic nerve or subarachnoid space Sites: CNS, Skull, bones.

Rhabdomyosarcoma Most common soft tissue tissue of childhood Can occur in any anatomic location Most occur in head and neck, genitourinary tract, and extremities Three types Embryonal Alveolar Pleomorphic variants

Rhabdomyosarcoma Avelolar rhabdomyosarcoma Associated with 2;13 or 1;13 translocation (PAX3/FKHR) which codes for skeletal muscle differentiation.

Sarcoma botyroides

Embryonal rhabdo micro Don’t worry about this

My aveolar Rhabdo case Tumor around the eye

Don’t worry about this

Don’t worry about this

Don’t worry about this

Aveolar Rhabdo micro