20 - 118: VASCULAR TUMORS Flashcards
(106 cards)
1
Q
most significant risk factor for development of infantile hemangioma (IH)
A
LBW <2500g
2
Q
Characteristic of infantile hemangiomas, except
a. presence at birth
b. presence of a nascent IH
c. presence of area of pallor
d. presence of telangiectasias
A
a. presence at birth – absence at birth
3
Q
S1 IH corresponds to anomalies in the
a. cerebral, cerebrovascular, ocular
b. less associated with extracutaneous features
c. airway involvement
d. cardiovascular abnormalities
A
a. cerebral, cerebrovascular, ocular
4
Q
most common extracutaneous features of PHACE
A
cardiac anomalies
5
Q
Areas most highly associated with PHACE
A
S3 – and S1
6
Q
area that carries 60% of symptomatic airway disease
A
S3
7
Q
Multifocal IH are considered if the patient presents with ___ or more IH
A
c. 6 p 2045
8
Q
MC complication of IH
a. GI bleeding
b. early onset vascular stroke
c. Ulceration
d. DVT
A
c. Ulceration
9
Q
rare complication in infants with diffuse infantile hemangiomas
a. Hypothyroidism
b. Hyperthyroidism
c. Hypercalcemia
d. Hypocalcemia
A
a. Hypothyroidism
10
Q
Alternative drug to propranolol that lacks bronchial reactivity
A
Atenolol
β1-selective antagonist
11
Q
most common tumor of infancy
A
Infantile hemangiomas
12
Q
most significant risk factor for IH development
A
Low birth weight
13
Q
characteristic features of IH
A
- ABSENT at birth or presence of a nascent IH often an area of pallor, telangiectasias or duskiness
13
Q
There is _____% risk increase of infantile hemangioma for every _______ g decrease in birth weight
A
40%
500g
14
Q
peak Infantile hemangioma growth period
A
5.5 and 7.5 weeks of age
15
Q
Most common location of IH
A
Head and neck
but can be found on any cutaneous or mucosal site
16
Q
Fill in the blanks.
Almost all IHs with a superficial component become apparent in the _______ month of life, and most will at least double in size within the first _______months of life.
A
- become apparent in the First month of life
- double in size within the first 2 months of life
17
Q
While 80% of growth has occurred by _____months of age, 80% of IHs have completed all growth by ______ months of age
A
- 80% of growth has occurred by 3 months of age
- 80% of IHs have completed all growth by 5 months of age
18
Q
The late proliferative stage of ongoing slower growth that occurs after peak rapid growth typically ends by _______ months of age
A
9 months
19
Q
A
20
Q
Evidence of involution, often referred to as ________
A
graying
- involves change to a dull red, then gray or milky-white color, followed by flattening and softening
21
Q
Evidence of involution, often referred to as graying, is usually apparent by what age?
A
usually apparent by 1 year of age
22
Q
More than 90% of IHs have completed involution by what age?
A
3.5 to 4 years of age
23
Q
True or False:
DEEP IHs are more likely to develop residual skin changes following involution compared with SUPERFICIAL IHs
A
FALSE
Superficial IHs are more likely to develop residual skin changes following involution compared with deep IHs
24
A less-common subtype of IH is distinguished by its minimal-to-absent proliferation and telangiectatic surface
IH with minimal or abortive growth
25
the presence of facial segmental IH is associated with risk of what?
PHACE (posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities)
26
Segmental IHs on the lower body confer risk of what syndrome?
myelopathy and genitourinary anomalies in LUMBAR (lower body hemangioma and other cutaneous defects, urogenital anomalies, ulceration, myelopathy, bony deformities, anorectal malformations, arterial anomalies, and renal anomalies) syndrome
27
term used to those that are not clearly identifiable as localized or segmental IH; some authors consider them to be “subsegmental”
Indeterminate IHs
28
Multifocal (multiple localized) IHs are less common, with fewer than 3% of infants presenting with _________ or more IHs.
6
29
This subtype of IHs are 11 times more likely to experience complications and 8 times more likely to receive treatment
segmental hemangiomas
30
possible complications of infantile hemangioma
ulceration, severe bleeding, scarring, pain and infection
31
High-risk Infantile Hemangioma Features
32
33
Enumerate the 4 segments of facial segmental IH
S1: frontotemporal
S2: maxillary
S3: mandibular
S4: frontonasal
34
this segment of facial segmental IH is associated with cerebral, cerebrovascular, and ocular anomalies
S1: frontotemporal segment
35
this segment of facial segmental IH is less-frequently associated with extracutaneous involvement
maxillary segment (S2)
36
this segment of facial segmental IH is correlated with airway IH, ventral developmental defects, and cardiovascular abnormalities
mandibular segment (S3)
37
this segment of facial segmental IH encompasses the high-risk territory of the nose, including the nasal tip, and confers risk of cerebral and cerebrovascular involvement
frontonasal segment (S4)
38
facial segments most highly associated with PHACE
frontotemporal (S1) and mandibular (S3) segments
39
40
most common extracutaneous features in PHACE
Congenital vascular anomalies
41
segmental IHs on the lower body involving the perineum or lumbosacral area are risk factors for associated spinal, bony, and genitourinary anomalies
LUMBAR syndrome describes the constellation of lower body hemangioma and other cutaneous defects, urogenital anomalies, ulceration, myelopathy, bony deformities, anorectal malformations, arterial anomalies, and renal anomalies
42
most commonly associated extracutaneous abnormality in LUMBAR syndrome presenting as tethered cord or lipomyelo(meningo)cele
Myelopathy
43
most common ocular complication, occurring in 40% to 60% of infants with untreated periocular IH
Amblyopia
44
IHs larger than ______in diameter confer greater risk of amblyopia, significantly lowering the threshold to initiate treatment.
1 cm
45
The most favorable prognostic sign to herald normal vision following involution
absence of asymmetrical refractive error
46
most common extracutaneous site for IH
Liver
47
T/F.
Focal hepatic hemangiomas are not true IHs.
Multifocal and diffuse hepatic hemangiomas are true IHs.
True
48
most common complication of IH
ulceration
- occurring in greater than 20% of infants in a referral setting, typically during the proliferative phase, with a median age of onset of 4 months
49
sensitive marker of impending ulceration of IH
Early gray-white discoloration in patients younger than 3 months
50
most reliable histologic marker of IH, which is expressed in all stages of IH
GLUT1, a red blood cell glucose transporter protein
51
52
only medication approved by the United States Food and Drug Administration (FDA) for the treatment of complicated IH
Propranolol
## Footnote
Molecular mechanisms of propranolol in effectively treating IH include lesional capillary vasoconstriction (visible IH color change within first 48 hours of use), angiogenesis inhibition (arresting growth), and induction of apoptosis (bringing about IH regression).
53
refers to errors of vascular morphogenesis
Vascular malformations
54
give examples of benign vascular TUMORS
55
give examples of locally aggressive vascular tumors
56
give examples of malignant vascular tumors
57
give examples of vascular malformations
58
classification of infantile hemangioma based on depth
1. superficial,
2. deep,
3. combined/mixed
59
classification of infantile hemangioma based on distribution
1. localized,
2. segmental,
3. indeterminate,
4. multifocal
60
most common of the morphologic subtypes of infantile hemangiomas
superficial IHs
61
subtype of IH that presents as bright fuchsia pink to “strawberry” red vascular plaques or nodules; they involve the papillary dermis
Superficial IHs
62
characterize deep IH
* present as a **partially compressible**, **localized subcutaneous tumors** with variable prominence depending upon depth in the skin, and either appear with a **slight blue hue** or the same color as the surrounding skin; they may be noted, on average, 1 month later than superficial IHs.
* Less frequently, deep IHs are not appreciated until the infant is a few months of age.
* more likely to have a longer proliferative phase
* later onset of involution compared with their superficial counterparts
63
PHACE stands for?
posterior fossa brain malformations, hemangiomas of the face, arterial anomalies, cardiac anomalies, and eye abnormalities
64
IHs that are not clearly identifiable as localized or segmental
Indeterminate IHs
65
one of the most important factors affecting risk of extracutaneousmanifestations of IH
Anatomic location
65
What is the associated risk or complication when IH is located on facial, large segmental area?
PHACE (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, sternal clefting) syndrome
66
What is the associated risk or complication when IH is located on the Nasal tip, ear, large facial area (especially with prominent deep component)?
Permanent scarring, cartilage destruction, disfigurement
67
What is the associated risk or complication when IH is located on the Periorbital and retrobulbar area?
Ocular axis occlusion, astigmatism, amblyopia, tear-duct obstruction
68
What is the associated risk or complication when IH is located on the Segmental (S3)/”beard area,” central neck?
Airway infantile hemangioma
69
What is the associated risk or complication when IH is located on the Perioral area?
Ulceration, disfigurement, feeding difficulties
70
What is the associated risk or complication when IH is segmental overlying lumbosacral spine?
Myelopathy, genitourinary anomalies
71
What is the associated risk or complication when IH is located on the Perineal, axilla, neck, perioral area?
Ulceration
72
What is the associated risk or complication when IH is multifocal?
Visceral involvement (especially liver, GI tract)
73
LUMBAR syndrome describes the constellation of what manifestations?
**lower** body hemangioma and other cutaneous defects, **urogenital** anomalies, **ulceration**, **myelopathy**, **bony** deformities, **anorectal** malformations, **arterial** anomalies, and **renal** anomalies
74
this event is postulated to trigger neovasculogenesis in infants with IH
hypoxia
## Footnote
At present, the most supported explanation suggests that hypoxia (in utero or in local tissue) is key to stimulation of circulating endothelial progenitor cells (CD34+, CD133+ stem cells), subsequent vasculogenesis with ensuing proliferation to maintain tissue oxygenation homeostasis, and eventual increased apoptosis (beginning by end of first year of life) to initiate involution
75
what stains can you request in IH?
**Ki-67 and GLUT-1**
IHs are also CD31+ and CD34+
* In early IH, markers of cellular proliferation such as Ki-67 denotes proliferation of endothelium and pericytes and normal appearing mitotic figures appear abundant
* When necessary to confirm the diagnosis on histopathologic specimen, GLUT1 immunostaining is positive in the endothelial cells lining IH capillaries at all stages of IH growth, distinguishing IH from other vascular tumors and all vascular malformations
76
what should you evaluate if there is presence of a segmental IH of the head, neck, and/or scalp?
evaluation for possible **PHACE** to include** MRI and MRA of the head/neck/chest,** formal **ophthalmologic** evaluation, and **echocardiogram**
77
prognosis of IH
* The prognosis of most IHs is excellent, with spontaneous involution and little to no sequelae, but a significant minority of IH result in permanent disfigurement or medical sequelae
* Following involution, approximately **half** of all treated patients will attain **normal** skin, while the other half can have residual **atrophy, scarring, telangiectasias, or fibrofatty softtissue remnant.**
* The most important factor to affect prognosis in complicated IH is timing of specialist referral for management, including initiation of therapy and workup as necessary.
78
Key criteria to warrant consideration of beta-blocker treatment initiation for IH
* facial deformity,
* active or impending functional impairment,
* early prevention of anticipated permanent sequelae,
* mitigation of the need for surgery
79
Common side effects of propranolol
* sleep disturbance, acrocyanosis, and asymptomatic transient decrease in blood pressure or heart rate
* Rarely observed potential important adverse effects include hypoglycemia, symptomatic hypotension or bradycardia, wheezing, bronchospasm, and diarrhea
80
current proposed factors favoring inpatient initiation of propranolol
* young age (the study on which FDA approval of propranolol was granted included infants as young as 5 weeks of age with outpatient initiation),
* comorbid medical conditions (eg, respiratory or cardiovascular),
* inadequate social support, or
* any preexisting concerns for blood glucose
81
youngest age allowable to receive outpatient initiation of propranolol
5 weeks
82
propranolol dosing for IH
Dosing is typically started at 1 mg/kg/day in 2 divided doses and increased by 0.5 mg/kg/day increments every 3 to 7 days to a target dose between 2 and 3 mg/kg/day.
## Footnote
* Most practitioners use 2 mg/kg/day.
* Slower dose escalation or lower target dose may be warranted in the setting of PHACE syndrome, ulceration or other comorbid conditions.
83
a nonselective β-antagonist which has an advantage of its inability to cross the blood–brain barrier, thereby decreasing concerns for any potential neurocognitive side effects compared with propranolol
nadolol
84
* nonselective beta blocker available in an ophthalmic preparation approved for the treatment of pediatric glaucoma
* this is 8 to 10 times more potent than propranolol
* it has been reported as an effective option for IH
Topical timolol
85
When used, prednisone or prednisolone is given at what dose for IH?
**2 to 3 mg/kg/day,** typically for 4-8 weeks followed by a tapering of varying length, depending on the age of the child and indication for treatment
86
Vincristine’s use in the treatment of vascular tumors is now reserved for what tumors?
complicated kaposiform hemangioendothelioma (KHE) and tufted angioma (TA)
87
Proposed indications for surgical intervention of IH during infancy
* anatomically favorable site amenable to resection,
* a contraindication or failure of pharmacotherapy, or a
* high risk of ultimately necessary resection with similar scar regardless of timing of surgery
88
When is screening for PHACE warranted?
Screening for PHACE is recommended in the setting of **segmental IH on the head,** in infants **without classic segmental IH or with a small IH who have a major anomaly seen in PHACE** (eg, coarctation of the aorta or supraumbilical raphe) and in infants with **2 major criteria for PHACE **as outlined in consensus guidelines from 2016
89
Hemangiomas that are fully formed tumors at the time of birth and do not proliferate in postnatal life
congenital hemangiomas
## Footnote
They are benign and much less common than IH
90
3 major subtypes of congenital hemangiomas
1. rapidly involuting (RICH),
2. noninvoluting (NICH),
3. partially involuting congenital hemangioma
91
areas of predilection of congenital hemangiomas
head, neck, and extremities
92
* RICH often appears as a raised, violaceous tumor with large, radiating veins or with overlying telangiectasia and a halo of pallor
* Central ulceration may be present
Most RICHs involute spontaneously by or before how many months of age and usually leave residual atrophic anetodermic scar tissue?
14 months of age
93
Somatic activating missense mutations in what genes are reported to cause RICH and NICH?
GNAQ and GNA11
94
Indications for treatment of congenital hemangiomas
ulceration, impairment of vital function and congestive heart failure
## Footnote
Excision, with or without preoperative embolization, should definitely be considered for ulceration, which can lead to severe hemorrhage, and for postinvolutional skin changes if disfiguring
95
what is the GLUT1 staining of congenital hemangioma?
negative
## Footnote
Infantile hemangioma is positive
96
* most commonly seen on the neck, trunk, and extremities.
* They may present as a **subtle stain-like area** that later thickens, as a large, plaque-like, infiltrated, red or dusky blue-purple lesion, or as an exophytic, firm, rubbery, violaceous, cutaneous nodule
* Tenderness and overlying hyperhidrosis may occur.
Tufted angioma
97
* infiltrative, aggressive tumor classified as locally aggressive or borderline in the ISSVA classification
* It may present as a **brown-red stain at birth** which begins to thicken and become purpuric, or as plaques or deep-seated nodules and bulky tumors.
* Most cases involve the **skin and musculature**
* It can occur on the extremities, especially overlying joints, trunk, head, neck.
* **Deeper viscera** including **cervicothoracic, abdominal**, and the retroperitoneum can be affected
KAPOSIFORM HEMANGIOENDOTHELIOMA
98
refers to the presence of **platelet trapping within a vascular tumor **resulting in profoundly severe thrombocytopenia (typically less than 30000/µL) and associated **microangiopathic hemolytic anemia **and **consumption of clotting factors **resulting in **low fibrinogen,** **elevated D-dimers, **and varying degrees of** decreased coagulation factors**
Kasabach-Merritt Phenomenon
99
what laboratory abnormalities are seen in Kasabach-Merritt Phenomenon?
* severe thrombocytopenia (typically less than 30000/µL)
* microangiopathic hemolytic anemia
* low fibrinogen
* elevated D-dimers
* decreased coagulation factors
100
Which vascular tumors may present with Kasabach-Merritt Phenomenon as complication?
Kaposiform Hemangioendothelioma and Tufted Angioma
KHE>TA
101
rare benign vascular tumor most often seen with **Maffucci syndrome**
Spindle-cell hemangioma
## Footnote
* IDH1 and IDH2 genetic mutation
* It can occur at any age and site but the extremities are the most commonly affected.
* The histology is of a nodular, dense, spindle cell proliferation associated with dilated dysplastic veins.
102
considered first-line treatment of Kaposiform Hemangioendothelioma
**Systemic corticosteroids** often used in combination with vincristine, especially in the setting of KMP
## Footnote
Ticlopidine and aspirin are reported as adjunctive therapies with variable benefit
103
* usually presents as a solitary, red, rapidly growing papule or nodule, often with a subtle collarette of scale
* Typical locations include the cheek or forehead, but virtually any body site including the mucous membranes may be affected
pyogenic granuloma
104
The presence of “hobnail” endothelial cells inside tumoral vessels is the sine qua non of this tumor
Papillary intralymphatic angioendothelioma (PILA), also known as Dabska tumor
