of the (X;17) translocation of alveolar soft part sarcoma,
was positive in 3 of 3 tumors tested.
2.2. Patterns of metachronous spread
Brain metastases developed subsequent to diagnosis in
2 additional patients, but no patient had brain metastases in
the absence of lung metastases. Every patient with brain
metastases had lesions in the cerebellum, although some had
multifocal disease including other parts of the brain as well.
Five patients without pulmonary metastases at diagnosis
went on to develop lung metastases. Counting the 7 other
patients who had lung metastases at the time of initial
presentation, a total of 12 (60%) of 20 patients exhibited
lung metastases at some point.
Besides brain and lungs, other sites of late metastatic
disease included chest wall (n = 3), retroperitoneum/pelvis/
paraaortic nodes (n = 2), liver (n = 2), spleen (n = 1), kidney
(n = 1), and acetabulum in a patient with a thigh primary (n = 1).
2.3. Diagnosis and initial surgical therapy
Eight (40%) of 20 patients had no preoperative imaging
performed (
Table 2
). Although 13 (65%) of 20 patients
presented with localized or locoregional disease, we could
only identify one patient who had a biopsy followed by
wide local excision by the same surgeon. Most patients
came to our center after initial excision at an outside
institution, and 4 of these patients had undergone attempted
excisional biopsies but had positive margins. One patient
presented to us after having undergone embolization of what
was thought to be a vascular malformation; this was
recognized at embolization to be a solid tumor and core
biopsy was immediately obtained.
Those who presented to our institution with locoregional
disease underwent definitive wide local reexcision to render
them IRS group I, with the exception of patient 12, who was
found on lymph node dissection to have tumor in a regional
node, classifying him as IRS group IIb. Lymph node biopsy
was performed concurrently in 3 cases, lymph node
dissection in 3, and sentinel node biopsy in 2. Two patients
with locoregional disease (patients 7 and 18) underwent
initial definitive surgery at outside institutions in 1967 and
1975, respectively; operative notes and original pathology
reports were not available, so their IRS grouping could not
be determined. Both ultimately had regional recurrence and
metastases, with pathological confirmation of the diagnosis
of alveolar soft part sarcoma at our center.
Those rendered free of disease (IRS group I) at the time
of definitive surgery tended to have good outcomes. Of the
10 patients in this group, 2 are alive with small lung nodules
Table 1
Demographics and tumor data
Patient #
Age at
diagnosis
Sex
Size of
primary (cm)
Sites at
presentation
Symptoms
Subsequent sites
TNM
1
6
M
5.1
Calf
Mass
Lung
Txb N0 M0
2
12
F
9
Thigh
Unknown
Lungs, chest wall,
brain
T2b N0 M0
3
13
M
2.5
Scalp
Mass
Lungs
T1a N0 M0
4
14
M
9
Thigh, lungs
Mass
T1b N0 M1
5
14
M
Unknown
Chest wall
Mass
Lung
Tx N0 M0
6
15
F
Unknown
Chest wall
Mass, pain
T2x N0 M0
7
15
F
Unknown
Thigh
Unknown
Lungs, acetabulum,
chest wall,
retroperitoneum
Tx N0 M0
8
15
M
2.4
Forearm
Mass, numbness
T1a N0 M0
9
16
F
4
Breast
Mass
T2a N0 M0
10
16
F
9
Thigh, lung
Mass
Contralateral lung
T1b N0 M1
11
17
F
Unknown
Thigh, lungs,
cerebellum
Mass
Tx N0 M1
12
17
M
7.4
Neck, lymph node,
submandibular gland
Mass
T2b N1 M0
13
17
M
2.5
Chest wall
Mass
T2a N0 M0
14
17
F
4
Thigh
Mass, pain
T2a N0 M0
15
19
F
7
Thigh, lungs
Mass
T2b N0 M1
16
20
M
3.5
Back
Mass
T1a N0 M0
17
22
F
Unknown
Chest wall, lungs
Mass, pain
T2x N0 M1
18
22
F
Unknown
Retroperitoneum
Unknown
Pelvis, paraaortic
nodes, liver
Tx Nx Mx
19
22
M
11
Thigh, femur, lungs
Mass, pain
Brain, liver, spleen,
kidney, chest wall
T2a N0 M1
20
24
M
15
Retroperitoneum,
lungs, brain
Mass, nausea, vomiting
T2b N0 M1
Clinical presentation, treatment, and outcome of alveolar soft part sarcoma
189