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MOD Midterm > Diseases of Infancy and Childhood: Tumors and Tumor-like Lesions of Infancy and Childhood > Flashcards

Diseases of Infancy and Childhood: Tumors and Tumor-like Lesions of Infancy and Childhood Flashcards

1
Q

What does heterotopia (choristoma) refer to?

A

microscopically normal cells in abnormal location

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2
Q

what does hamartoma refer to?

A

excessive focal overgrowth of tissue native to the organ

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3
Q

What is a common example of a hamaratoma?

A

hemangiomas

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4
Q

What is the most common tumor of infancy?

A

hemangioma

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5
Q

the most common neoplasms of childhood are what derived?

A

soft-tissue mesenchymal derivation

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6
Q

hemangiomas may enlarge along with the growth of the child, but in many instances they?

A

spontaneously regress

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7
Q

in addition to their cosmetic significance, hemangiomas can represent one facet of the hereditary disorder _____?

A

von Hippel-Lindau disease

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8
Q

What are lymphatic tumors known as?

A

lymphangioma and lymphangiectasia

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9
Q

Teratomas exhibit two peaks in incidence: what are these peaks?

A

the first at approximately 2 years of age and the second in late adolescence or early adulthood

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10
Q

What are the most common teratomas of childhood?

A

sacrococcygeal teratomas (4x more common in females)

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11
Q

the most frequent childhood cancers arise in what?

A

the hematopoietic system, nervous tissue (including the central and sympathetic nervous system, adrenal medulla, and retina), soft tissue, bone, and kidney

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12
Q

In general, what are the characteristics of the malignant nonhematopoietic pediatric neoplasms?

A

they tend to have a more primitive (embryonal) undifferentiated appearance, often characterized by sheets of cells with small round nuclei

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13
Q

because of their primitive appearance, many childhood tumors have been collectively referred to as what?

A

small round blue cell tumors

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14
Q

neuroblastic tumors include tumors of what?

A

the sympathetic ganglia and adrenal medulla that are derived from primordial neural crest cells populating these sites

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15
Q

what is the most frequently diagnosed tumor of infancy?

A

neuroblastoma

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16
Q

What is the median age of diagnosis of neuroblastoma, but when are 40% of cases diagnosed?

A

median age is 18 months, but 40% of cases are diagnosed in infancy

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17
Q

most neuroblastomas occur sporadically, but 1-2% are familial due to what?

A

germline mutations in the anaplastic lymphoma kinase (ALK) gene

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18
Q

what are some characteristic features of neuroblastomas?

A

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

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19
Q

What is the classical clinical presentation of a patient with a neuroblastoma?

A

they will be younger than 2 years old with a large abdominal mass, +/- weight loss

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20
Q

In childhood, about 40% of neuroblastoma arise where?

A

in the adrenal medulla

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21
Q

Besides the adrenal medulla, the remainder of neuroblastomas occur where?

A

anywhere along the sympathetic chain, with the most common locations being the paravertebral region of the abdomen and posterior mediastinum

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22
Q

In neonates, disseminated neuroblastomas may present how?

A

with multiple cutaneous metastases that cause deep blue discoloration of the skin (blueberry muffin baby)

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23
Q

In children older than 2 years, how might neuroblastoma present differently?

A

they may not come to attention until metastases produces manifestations such as bone pain, respiratory symptoms, or GI complaints; proptosis and ecchymosis may also be present as the periorbital region is a common metastatic site

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24
Q

about 90% of neuroblastomas, regardless of location, produce what?

A

catecholamines

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25
Q

how are the catecholamines produced by neuroblastomas used as a diagnostic feature?

A

elevated blood levels of catecholamines and elevated urine levels of the metabolites VMA and HVA

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26
Q

what does HVA come from?

A

the degradation of dopamine

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27
Q

what is responsible for breaking down dopamine into HVA?

A

Monoamine oxidase (MAO) and COMT

28
Q

where does VMA come from?

A

the degradation of norepinephrine

29
Q

what is responsible for breaking down norepinephrine into VMA?

A

monoamine oxidase (MAO) and COMT

30
Q

what are in aitu lesions?

A

minute nodules- the great majority of these silent lesions regress leaving only a focus of fibrosis or calcification in the adult

31
Q

histologically, classic neuroblastoma are composed of what?

A

small, primitive appearing cells with dark nuclei, scant cytoplasm, and poorly defined cell borders growing in solid sheets

32
Q

what is a histological feature of neuroblastomas?

A

typically Homer-Wright pseudoresettes can be found in which tumor cells are concentrically arranged about a central space filled with neuropil

33
Q

at what stage do most children first get diagnosed with neuroblastoma?

A

stage 3 or 4

34
Q

What stages are considered fvorable for prognosis of neuroblastoma?

A

stages 1, 2A, 2B, and 4s

35
Q

what are the favorable prognostic factors in neuroblastomas?

A

age: less than 18 months old; histology: ganglionic differentiation is present (mature), and there is not a lot of mitosis-karyorrhexis; MCYN: not amplified

36
Q

what are the unfavorable prognostic factors in neuroblastomas?

A

Age: older than 18 months; Histology: no ganglionic differentiation and high mitosis-karyorrhexis index; MCYN: amplified

37
Q

How can you test to see if MYCN is amplified or not?

A

by using FISH; used to test for gene amplification

38
Q

One peculiar form of segmental aberration described recently in aggressive neuroblastoma is called what?

A

chromothripsis

39
Q

what is chromothrupsis characterized by?

A

extensive genomic rearrangements and an oscillating pattern of DNA copy levels

40
Q

What is the most common primary renal tumor of childhood?

A

Wilms tumor

41
Q

when is the peak incidence of wilms tumor?

A

age 2-5 years old (but can occur up to 10 years old)

42
Q

If you have bilateral wilms tumors and earlier presentation, what is most likely going on?

A

there was a germline mutation

43
Q

How do children present when they have a Wilms tumor?

A

with a large abdominal mass that may extend down into the pelvis; hematuria, pain in the abdomen, intestinal obstruction, and the appearance of hypertension

44
Q

Do Wilms tumors produce catecholamines?

A

NO THEY DO NOT

45
Q

What type of metastases is commonly found at the time of primary diagnosis of Wilms tumors?

A

pulmonary metastases

46
Q

What are the histological characteristics of Wilms tumors?

A

they have a classic triphasic combination of blastemal, stromal, and epithelial cell types

47
Q

What do the blastemal cell types look like in the Wilms tumors?

A

they are the small blue cells

48
Q

What is the epithelial differentiation of Wilms tumors usually in the form of?

A

abortive tubules or glomeruli

49
Q

What is a key feature of Wilms tumors that has prognostic significance or is associated with chemotherapy resistance?

A

approximately 5% of these tumors have anaplasia; the presence of anaplasia correlates with the presence of TP53 mutations and the emergence of resistance to chemotherapy

50
Q

what is anaplasia defined as?

A

the presence of large, hyperchromatic, pleomorphic nuclei and abnormal mitoses

51
Q

The risk of Wilms tumor is increased with at least 3 recognizable groups of congenital malformations associated with distinct chromosomal loci. What are these groups/syndromes?

A

WAGR/WAGI syndrome, Denys-Drash syndrome, and Beckwith-Wiedeman syndrome

52
Q

if you have WAGR/WAGI syndrome, what is your lifetime risk for getting Wilms tumor?

A

33%

53
Q

what all occurs in WAGR/WAGI syndrome?

A

Wilms tumor, aniridia, genital anomalies, mental retardation (intellectual disability)

54
Q

what is aniridia?

A

the absence of an iris (color in the eye)

55
Q

what causes WAGR/WAGI syndrome?

A

a germline deletion of 11p13

56
Q

what was the first wilms-tumor associated gene identified?

A

WT1

57
Q

what causes aniridia specifically?

A

deleted autosomal dominant gene for aniridia PAX6

58
Q

If you have Denys-Drash syndrome, what is your lifetime risk for getting Wilms tumor?

A

90%!!!!!!!

59
Q

What is Denys-drash syndrome characterized by?

A

gonadal dysgenesis, early onset neuropathy leading to renal failure

60
Q

What are Denys-Drash patients also at risk for besides Wilms tumor?

A

gonadoblastoma

61
Q

What is the genetic abnormality associated with Denys-Drash syndrome?

A

the genetic abnormality is a dominant-negative missense mutation in the zinc-finger region of the WT1 protein that affects its DNA binding properties

62
Q

What is Beckwith-Wiedmann syndrome characterized by?

A

organomegaly, macroglossia, hemihypertrophy, omphalocele, adrenal cytomegaly

63
Q

Beckwith-Wiedmann syndrome has served as a model for tumorigenesis associated with what?

A

genomic imprinting

64
Q

What is the chromosomal region implicated in beckwith-wiedmann syndrome?

A

it has been localized to band 11p15.5

65
Q

What do some patients with beckwith-wiedmann syndrome have?

A

a CDKN1C mutation

66
Q

what is the normal function of CDKN1C?

A

it is a cell cycle regulator that broadly inhibits multiple CDKs- so if it is mutated, the cell cycle will continue unchecked

67
Q

besides wilms tumors, what are those with beckwith-wiedmann syndrome at increased risk for?

A

hepatoblastoma, pacreatoblastoma, adrenal cortical tumors, and rhabdomyosarcoma

MOD Midterm (22 decks)

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