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MOD Midterm > Diseases Of Infancy And Childhood Pt2 > Flashcards

Diseases Of Infancy And Childhood Pt2 Flashcards

1
Q

What is heterotopia (choristoma)?

A

Microscopically normal cells/tissues in abnormal location

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2
Q

What is a hamartoma?

A

Excessive focal overgrowth of tissue native to the organ (ex. hemangioma)

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3
Q

What is the most common tumor of infancy?

A

Hemangioma

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4
Q

Describe the growth of hemangiomas

A

May enlarge along with the growth of the child but in many instances they spontaneously regress
They can represent one part of the hereditary disorder von Hippel-Lindau disease

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5
Q

A subset of CNS cavernous hemangiomas can occur in the familial setting and these families harbor mutations in one of which three genes?

A

KRIT1, CCM2 or PDCD10

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6
Q

What are examples of lymphatic tumors?

A

Lymphangioma and lyphaniectasia

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7
Q

What are the two types of hemangiomas?

A

Capillary and cavernous

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8
Q

What are port wine stains?

A

Occurs in children with hemangiomas

Flat hemangioma that is a vascular ectasis

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9
Q

Describe lymphangiomas

A

Characterized by cystic and cavernous spaces
Can occur in the skin but more likely in the deeper regions of the neck, axilla, mediastinal tissue, or retroperitoneal tissue
Histologically benign but can grow after birth due to the accumulation of fluid and the budding of pre-existing spaces

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10
Q

Describe lymphangiectasia

A

Abnormal dilations of pre-existing lymph channels
Presents as a diffuse swelling of part of or all the extremity that can cause considerable distortion and deformation due to the spongy dilated subcutaneous lymphatic ducts

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11
Q

Fibrous tumors can look like what?

A

Adult type fibrosarcoma but have a better outcome (aka excellent prognosis)
Associated with congenital infantile fibrosarcomas

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12
Q

What chromosome translocation is unique to congenital infantile fibrosarcomas?

A

ETV6-NTRK3 fusion transcript

Diagnostic

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13
Q

Describe teratomas

A 
Benign, well differentiated cystic lesions (mature teratoma —> better prognosis) 
Lesions of interdeterminate potential (immature teratoma)
Malignant teratomas (admixed with another germ cell tumor component -> endodermal sinus tumor)
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14
Q

What are the two peaks of incidence with teratomas?

A

2 years old (congenital neoplasms)

In late adolescence or early adulthood (slow growing, may be prenatal)

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15
Q

What is the most common teratoma?

A

Sacrococcygeal teratoma
Greater in females than males
Mostly mature teratomas

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16
Q

The most frequent childhood cancers arise where?

A

Hematopoietic system, nervous tissue including the CNS, SNS, adrenal medulla and retina, soft tissue, bone and kidneys

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17
Q

Most neoplasms of children typically come from what?

A

Soft tissues of mesenchymal origin whereas in the adult they are from epithelial origin

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18
Q

Describe the histology of malignant non-hematopoietic pediatric neoplasms

A

Tend to have a more primitive/embryo an undifferentiated appearance
Characterized by sheets of cells with small, round nuclei (referred to as small round blue cell tumors)
Frequently show organogenesis specific to site of tumor origin
Referred to by the suffix -blastoma

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19
Q

What are common malignant neoplasms in infancy and childhood?

A

Leukemia, Rb, neuroblastoma, Wilms tumor, hepatoblastoma, soft tissue sarcoma, teratoma, central nervous system tumors, Ewing sarcoma

20
Q

What are neuroblastic tumors?

A

Includes tumors of the sympathetic ganglia and adrenal medulla that are derived from primordial NCCs populating these sites

21
Q

What is the most common extracranial solid tumor of childhood?

A

Neuroblastoma

Median age of diagnosis is 18 mo

22
Q

Germline mutations in which gene have been identified to confer a familial predisposition to neuroblastoma?

A

Anaplastic lymphoma kinase (ALK gene)

23
Q

What are characteristics features of a neuroblastoma?

A

Spontaneous or therapy induced differentiation of primitive neuroblasts into mature elements, spontaneous tumor regression and wide range of clinical behavior and prognosis

24
Q

What is the clinical presentation of a neuroblastoma?

A

Less than 2 years old with large abdominal mass, fever, +/- weight loss
Infants with multiple cutaneous metastasis (blueberry muffin baby)
May present with Mets via blood and lymph to liver, lung, bone and bone marrow (periorbital region is a common metastatic site)

25
Q

40% of neuroblastoma arise where?

A

In the adrenal medulla

26
Q

What is an important diagnostic feature of neuroblastoma?

A

Regardless of location 90% of them will produce catecholamines (i.e. elevated blood levels of catecholamines and elevated urine levels of metabolites VMA and HVA)

27
Q

Histologically classic neuroblastomas are composed of what?

A 
Small primitive appearing cells with dark nuclei, scant cytoplasm, and poorly defined cell borders growing in solid sheets 
Neuropil present (neuritic processes of immature neuroblasts)
28
Q

What is Homer-Wright pseudorosette?

A

Can be found in which the tumor cells are concentrically arranged about a central space filled with neuropil

29
Q

What is important in determining prognosis of a neuroblastoma?

A

The staging system

30
Q

When is MYCN amplified in neuroblastomas?

A

Not amplified in favorable prognosis, but amplified in unfavorable

31
Q

Ganglioneuromas are characterized by what?

A

Clusters of large cells with vesicular nuclei and abundant eosinophilic cytoplasm representing neoplasticism ganglion cells
Spindle shaped Schwann cells are present in the background stroma (associated with favorable outcome)

32
Q

Regardless of the stage those diagnosed with neuroblastoma earlier than 18 months have what kind of prognosis?

A

Favorable prognosis (while those older than 18 mo will have unfavorable prognosis)

33
Q

What is FISH?

A

Uses DNA probes that recognize sequences specific to particular chromosomal regions
Used to detect numeric abnormalities of chromosomes, subtle deletions or translocations, and gene amplification (e.g. NMYC amplification in neuroblastoma)

34
Q

What is chromothripsis?

A

Characterized by extensive genomic rearrangements and an oscillating pattern of DNA copy number levels all restricted to one or a few chromosomes
Associated with aggressive neuroblastomas

35
Q

What is the most common primary renal tumor of childhood?

A

Wilms tumor

And the 4th MC pediatric malignancy in the US

36
Q

Describe Wilms tumor

A

Peak incidence 2-5 years of age
Germline mutation leads to bilateral tumors and earlier presentation
Some are a consequence of therapy mostly radiation administered to the cancer filed

37
Q

Most children with Wilms tumors present with what?

A

A large abdominal mass that may be unilateral or when very large may extend across the midline and down into the pelvis
Hematuria, pain in the abd after some traumatic incident, intestinal obstruction and appearance of HTN are other patterns of presentation
Pulmonary metastasis are present at the time of primary diagnosis

38
Q

Wilms tumors are characterized by what?

A

Recognizable attempts to recapitulate different stages of nephrogenesis

39
Q

What is the classic triphasic combination in Wilms tumors?

A

Blastemal, stromal and epithelial cell types observed in the vast majority of lesions (percent of each component varies)

40
Q

5% of Wilms tumors show what?

A

Anaplasia with TP53 mutation

Correlates with chemo resistance

41
Q

What are nephrogenic rests?

A

Putative precursor lesions of Wilms tumors and are seen in the renal parenchyma adjacent to approximately 25-40% of unilateral tumors
Rises to nearly 100% in cases of bilateral tumors

42
Q

The risk of Wilms tumor is increased with at least 3 recognizable groups of what?

A

Congenital malformations associated with distinct chromosomal loci
Includes WAGR syndrome, Denys-Drash syndrome and Beckwith-Wiedemann syndrome

43
Q

What is WAGR/WAGI syndrome?

A

Wilms tumor, Aniridia (no iris), Genital anomalies and mental Retardation/Intellectual disability
Pax6 = makes protein that is involved in early development of the eyes, brain, SC and pancreas
Germline WT1 deletion is first hit, second hit is frameshift or nonsense mutation in second allele
33% lifetime risk of Wilms tumor

44
Q

What is Denys-Drash syndrome?

A

90% risk of Wilms tumor
Gonadal dysgenesis (male pseudohermaphrodism)
Early onset nephropathy —> renal failure
Increased risk of gonadoblastoma (germ cell tumors)
Inactivation of WT1

45
Q

What is Beckwith-Wiedemann syndrome?

A

Characterized by organomegaly, macroglossia, hemihypertrophy, omphalocele, adrenal cytomegaly
Ex of genomic imprinting (WT2-IGF2)
Some have CDKN 1C mutation (a cell cycle regulatory p57 that readily inhibits multiple CDKs)

46
Q

Those with Beckwith-Wiedemann syndrome have increased risk for what?

A

Hepatoblastoma, pancreatoblastoma, adrenal cortical tumors, rhabdomyosarcoma

MOD Midterm (8 decks)

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