Paediatrics Flashcards
GI polyp in a child with inflamed, edematous lamina propria and cystically dilated glands
Juvenile polyp
Plan:
Correlate with clinical history and endoscopic appearance (?single or multiple polyps)
Advice to clinician: May be sporadic or assiociated with juvenile polyposis syndrome. Clinical correlation is required.
Paediatric renal tumour with areas of small round blue cells, epithelium forming tubules and primitive glomeruli, and stroma (non descript spindle cells, smooth muscle, or skeletal muscle)
Nephroblastoma (Wilms tumour)
Differential diagnosis: Triphasic histology makes DDx unlikely in paediatric patient
Plan:
Correlate with clinical history and radiology
Examine further sections (e.g. for size, relation to margins, any anaplasia)
IPX to support Dx: WT1 (nuclear positivity), CD56 (expect positive in epithelium)
Next steps: Synoptic report, discuss at MDT
Well circumscribed, unencapsulated cardiac tumour in a child composed of large polygonal cells with prominent cytoplasmic vacuolation. Cells may have thin strands of eosinophilic cytoplasm extending between the cell membrane and nucleus separating cytoplasmic vacuoles (“spider cells”)
Cardiac rhabdomyoma
Plan:
Correlate with clinical history and radiology (?tuberous sclerosis)
Advice to clinician: 50% of cases assiociated with tuberous sclerosis. Clinical correlation required
Paediatric cyst lined by respiratory type epithelium (pseudostratified ciliated columnar cells with scattered goblet cells) with cyst wall containing seromucinous glands, hyaline cartilage, and smooth muscle
Bronchogenic cyst
Plan:
Correlate with clinical history and radiology
Advice to clinician: Benign congenital malformation
Paediatric soft tissue tumour with lobular architecture, comprised of fat with intersecting fibrous septa, with myxoid change and adipocytes of variable maturation (from primitive mesenchymal cells, to lipoblasts, and mature fat cells)
Lipoblastoma
Differential diagnosis:
Myxoid liposarcoma
Well differentiated liposarcoma
Plan:
Correlate with clinical history and radiology (?rapidly growing superficial tumour)
Examine further sections (e.g. for total size, relation to margins, areas of differing morphology)
Molecular to support Dx: PLAG1 rearrangement
Molecular to discount DDx: DDIT3 rearrangement, MDM2 amplification
Next steps: Synoptic report, discuss at MDT
Advice to clinician: Benign, but may recur if not completely excised
Paediatric soft tissue tumour with intersecting fasclcles of bland fibroblastic/myofibroblastic cells, admixed with islands of mature adipose tissue, and myxoid nodules containing bland spindle/stellate mesenchymal cells
Fibrous hamartoma of Infancy
Plan:
Correlate with clinical history and radiology
Advice to clinician: Benign
Paediatric scalp lesion with complex proliferation of epidermis (acanthosis, papillomatosis), and sebaceous glands high in the dermis that appear to open directly to skin surface. May have ectopic apocrine sweat glands.
Naevus Sebaceous of Jadassohn
Plan
Correlate with clinical history and dermatologic impression
Advice to clinician - Benign, though may enlarge and give rise to secondary neoplasms later in life
Paediatric skin lesion with dermal infiltrate of foamy histiocytes. A key feature is the presence of Touton giant cells. Scattered lymphocytes, plasma cells, and eosinophils may also be present. The lesions are typically well-demarcated and may show blunting of the rete ridges of the epidermis.
Juvenile xanthogranuloma
Plan
Correlate with clinical history and dermatologic impression
IPX to support Dx: Factor XIIIa
No specific further action required for this benign diagnosis.
Paediatric lung with poorly developed airspaces (atelectasis), lined by thick, eosinophilic, glassy hyaline membranes composed primarily of fibrin and cellular debris
Hyaline membrane disease
Paediatric bone tumour with monotonous small round blue cells with round nuclei, finely dispersed chromatin, inconspicuous nucleoli, and scant clear to pale eosinophilic cytoplasm with indistinct cell borders. May show ‘Homer-Wright’ pseudorosettes
Ewing sarcoma
Differential diagnosis:
Metastatic neuroblastoma
Rhabdomyosarcoma
Lymphoma (e.g. lymphoblastic lymphoma)
Mesenchymal chondrosarcoma
Small cell osteosarcoma
Synovial sarcoma
Plan:
Correlate with clinical history and radiology (?lytic bone lesion with aggressive periosteal reaction, permeative growth)
Examine further blocks (e.g. for total size, relation to margins)
Special stains to support Dx: PAS (highlight intracytoplasmic glycogen)
IPX to support Dx: CD99, FLI1 (expect positive)
IPX to discount DDx: Synaptophysin and chromogranin, myogenin and myoD1, CD45 and TdT, S100, SATB2, TLE1
Molecular to support Dx: FISH for EWSR1 fusion (most commonly EWSR1-FLI1)
Molecular to discount DDx (if required): PAX-FOX01 fusions (alveolar rhabdomyosarcoma), HEY1-NCOA2 fusion (mesenchymal chondrosarcoma), SS18-SSX fusion (synovial sarcoma)
Paediatric rectum with hypertrophic nerves in submucosa with absent ganglion cells
Hirshsprung’s disease
Plan:
Correlate with clinical history and radiology (?length of affected segment ?assiociated syndrome)
IPX to support Dx: Calretinin (expect no calretinin positive ganglion cells)
