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MOD > Chapter 10 Part 3 > Flashcards

Chapter 10 Part 3 Flashcards

1
Q

Sudden Infant Death Syndrome definition

A

sudden death of an infant under 1 yr of age which remains unexplained after a thorough case investigation including performance of a complete autopsy, examination of the death scene, and review of the clinical history; diagnosis of EXCLUSION

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2
Q

Examples of SIDS risk factors

A

young maternal age, drug use, low socioeconomic group, male sex, SIDS in prior sibling, prematurity, hyperthermia, co-sleeping, child abuse, long QT syndrome, etc.

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3
Q

Common postmortem morphological findings

A

petechiae, congested lungs, vascular engorgement, astrogliosis of brainstem, hypoplasia of dentate nucleus

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4
Q

Key risk factors for SIDS

A

vulnerable infant, critical developmental period in homeostatic control, exogenous stressor

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5
Q

Leading hypothesis for SIDS pathogenesis

A

delayed development of “arousal” and cardioresp control (medulla oblongata), defective serotonin pathway

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6
Q

Function of laryngeal chemoreceptors as they relate to SIDS

A

Typically elicit a cardiorespiratory inhibitory effect, stimulation augmented by resp infection and prone position

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7
Q

Common environmental stressors that are associated with SIDS

A

maternal smoking, thermal stress, sleeping on soft surfaces, prone or side sleeping

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8
Q

Definition of benign tumor

A

gross and microscopic appearances considered innocent, meaning it will remain localized, not spread, and is amenable to surgical removal

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9
Q

Definition of heterotopia

A

microscopically normal cells or tissues that are present in abnormal locations

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10
Q

Definition of hamartoma

A

excessive focal overgrowth of cells and tissues native to the organ (ex. hemangioma, lymphangioma, adenoma of the liver)

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11
Q

Hemangioma

A

most common tumor of infancy, cavernous or capillary, most will spontaneously regress; can be indicative of von Hippel-Lindau disease

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12
Q

Sturge-Weber Syndrome

A

sporadic congenital neurocutaneous disorder characterized by port-wine stain affecting skin in ophthalmic branch of CNV, abnormal capillary venous vessels in leptomeninges of brain and choroid, glaucoma, seizures, stroke, intellectual disability

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13
Q

Lymphatic tumors

A

lymphangiomas (hamartomatous) or lymphangiectasis; often occurs in neck, axilla, mediastinum

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14
Q

Fibrous tumor genetic anomaly

A

can look like adult fibrosarcomas; chromosomal translocation t(12;15)(p13;q25) resulting in ETV6-NTRK3 transcript causing stimulation of oncogenic RAS and PI3K/AKT pathway

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15
Q

Teratoma

A

can be benign or malignant, peak incidence at 2 yrs of age or late adolescence/early adulthood; more mature=better prognosis

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16
Q

Sacrococcygeal teratoma

A

congenital anomalies in hindgut, cloacal region and midline defects

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17
Q

Characteristics of pediatric neoplasms

A

histologically unique, primitive, sheets of cells with small, round nuclei, organogenesis specific to site of tumor

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18
Q

In what tissues do most pediatric cancers arise?

A

hematopoietic system, soft tissues, nervous system, bone, kidney

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19
Q

Most common neoplasms in children under 10

A

leukemia, neuroblastoma, wilms tumor, hepatoblastoma, retinoblastoma, rhabdomyosarcoma, teratoma, ewing sarcoma, astrocytoma, medulloblastoma, ependymoma

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20
Q

Neuroblastic tumors

A

most common extracranial solid tumor of childhood, occur sporadically but 1-2% are familial (ALK gene), tumors of sympathetic ganglia and adrenal medulla arising from neural crest population

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21
Q

Key characteristics of neuroblastomas

A

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

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22
Q

Clinical presentation of neuroblastoma

A

<2 yo with large abdominal mass, fever, with or without weight loss, cutaneous metastases; >2yo presents with mets (periorbital region, lungs, blood, liver, bones)

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23
Q

Key diagnostic feature of neuroblastoma

A

catecholamines increased in blood, VMA and HVA increase in urine

24
Q

Gross appearance of neuroblastoma

A

soft, gray-tan tissue, areas of necrosis, cystic softening, hemorrhage, calcification

25
Q

Histological appearance of neuroblastoma

A

primitive cells with dark nuclei, mitotic activity, muclear breakdown, neuropil that corresponds to neuritic processes of neuroblasts, Homer-Wright pseudorosettes,

26
Q

Stage I neuroblastoma

A

localized tumor with complete gross excision, ipsilateral lymphnodes negative for tumor

27
Q

Stage IIa neuroblastoma

A

Localized tumor with incomplete gross resection

28
Q

Stage IIb neuroblastoma

A

localized tumor with or without excision, ipsilateral lymph nodes positive for tumor, enlarged contralateral lymph nodes negative for tumor

29
Q

Stage III neuroblastoma

A

unresectable unilateral tumor infiltrating across midline with or with out regional lymph node involvement

30
Q

Stage IV neuroblastoma

A

any primary tumor with dissemination to lymph nodes, bone, bone marrow, other organs

31
Q

Stage IVs neuroblastoma

A

localized tumor with dissemination to skin, liver, bone marrow; limited to infants < 1 year

32
Q

Most important determinant of neuroblastoma outcome

A

age and stage
Favorable: Stage 1, 2A, 2B, 4S; <18 mo
Unfavorable: Stage 3, 4; >18 mo

33
Q

Most important molecular determinant of neuroblastoma outcome

A

MYCN amplification
Favorable: not amplified
Unfavorable: amplified

34
Q

Chromothripsis

A

extensive genomic rearrangement and oscillating DNA pattern in one or two chromosomes

35
Q

Ploidy variable, neuroblastoma

A

Favorable: Hyperdiploid (whole chromosome gains)
Unfavorable: near-diploid (segmental losses)

36
Q

Prevalence of neuroblastoma

A

1/7000 live births

37
Q

Prevalence of Wilms tumor

A

1/10000 children in US, most primary renal tumor of childhood with peak incidence between 2-5 years

38
Q

Synchronous

A

simultaneously

39
Q

metachronus

A

one after the other

40
Q

Common presentation of wilms tumor

A

large abdominal mass, hematuria, pain in abdomen, intestinal obstruction ,appearance of hypertension

41
Q

Gross appearance of wilms tumor

A

large solitary well circumscribed mass, soft, homogenous, tan-grey, necrosis, cyst formation, hemorrhage

42
Q

What combination of cell types are typically seen in a Wilms tumor

A

blastemal, stromal, epithelial; may also contain some cell types not normal to this organ

43
Q

Definition of anaplasia

A

lack of differentiation, hallmark of malignancy, TP53 mutation, correlates with chemo resistance

44
Q

Risk of wilms tumor is increased with what 3 groups of chromosomal malformations?

A

WAGR/WAGI syndrome, Denys-Drash syndrome, Beckwith-Weidman syndrome

45
Q

WAGR syndrome

A

Wilms tumor, aniridia, genital anomalies, mental retardation

46
Q

WAGR syndrome genetic anomaly

A

deletion of 11p13 - WT1 (wilms tumor) and PAX6 (aniridia/eye development); germline WT1 deletion is “first hit”, frameshift or nonsense mutation is second hit

47
Q

Risk for wilms tumor of WAGR patients

A

33%

48
Q

Risk for wilms tumor of Denys-Drash syndrome

A

90%

49
Q

Clinical characteristics of Denys-Drash syndrome

A

gonadal dysgenesis, early onset nephropathy, increased risk of gonadoblastoma

50
Q

Genetic anomaly in Denys-Drash syndrome

A

dominant negative missense mutation in WT1 that effects DNA binding properties, interferes with function of wild-type allele resulting in genital anomalies; bi-allelic inactivation of WT1 results in tumorigenesis

51
Q

Normal function of WT1

A

oncogene, DNA transcription factor involved in kidney and gonad development expressed during embryogenesis

52
Q

Clinical characteristics of Beckwith-Wiedemann syndrome

A

organomegaly, macroglossia, hemihypertrophy, omphalocele, adrenal cytomegaly

53
Q

Gene/chromosomal region in BWS

A

WT2, 11p15.5 - coding IGF2, if genetic imprinting is lost IGF will be over expressed

54
Q

CDKN1C mutation

A

BWS mutation, normally acts as a cell cycle regulator that inhibits multiple CDKs

55
Q

Increased tumor risks associated with BWS

A

hepatoblastoma, pancreatoblastoma, adrenal cortical tumors, rhabdomyosarcoma

56
Q

Definition of nephrogenic rests

A

precursor lesions of Wilms tumors seen in renal parenchyma adjacent to unilateral tumors, increased risk for developing wilms tumor in contralateral kidney and requires regular surveillance

MOD (34 decks)

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