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Recurring translocation (10;17) and deletion (14q) in clear cell
sarcoma of the kidney.Arch
Pathol Lab Med. 2007 Mar;131(3):446-51.
CONTEXT: Clear
cell sarcoma of the kidney (CCSK) is a prognostically unfavorable
renal neoplasm of childhood. Previous cytogenetic studies of CCSK have
reported balanced translocations t(10;17)(q22;p13) and
t(10;17)(q11;p12). Although the tumor suppressor gene p53 is located
at the chromosome 17p13 breakpoint, p53 abnormalities are rarely
present in these tumors. OBJECTIVE: To identify cytogenetic
abnormalities in CCSK and correlate these findings with other
clinicopathologic parameters. DESIGN: A retrospective review of CCSK
patients from 1990 to 2005 was conducted at our medical center. We
performed clinical and histologic review, p53 immunohistochemical and
classic cytogenetics (or ploidy analysis), and p53 fluorescence in
situ hybridization analyses. RESULTS: Five male patients (age range, 6
months to 4 years) were identified with cytogenetic abnormalities. Of
3 cytogenetically informative cases, one revealed a clonal balanced
translocation t(10;17)(q22;p13) and an interstitial deletion of
chromosome 14, del(14)(q24.1q31.1), and the other 2 patients had
normal karyotypes. Fluorescence in situ hybridization for p53 in the
t(10;17) case revealed no deletion. Immunohistochemical evaluation of
p53 demonstrated lack of nuclear protein accumulation in all cases.
CONCLUSIONS: Together with the published literature, our results
indicate that translocation (10;17) and interstitial deletions of
chromosome 14q are recurring cytogenetic lesions in CCSK. To date, 3
cases of CCSK or "sarcomatoid Wilms tumors" have been reported to
exhibit t(10;17). One previously reported case of CCSK contained
deletion 14q. Results of p53 immunohistochemistry and/or p53
fluorescence in situ hybridization in this report suggest lack of
mutations or deletions of this tumor suppressor in these CCSK cases.
The t(10;17) breakpoint and deletion of chromosome 14q24 suggest that
other genes are involved in tumor pathogenesis.
Clear
cell sarcoma: a dilemma on pathological staging and clinical
management.Pediatr
Hematol Oncol. 2005 Apr-May;22(3):257-61.
Clear cell
sarcoma of the kidney (CCSK) has been classified as high risk tumour
in the previous UK and international Wilms tumor studies. The current
Society of Paediatric Oncology (SIOP) trial, UK version, advocates
chemotherapy including doxorubicin prior to nephrectomy. Pathological
staging and histology of the resected tumor are then applied to
determine the extent and intensity of the postoperative therapy. We
describe an unusual case with a trilobed tumor and debate the
appropriate postoperative management.
Fine-needle aspiration cytology of clear-cell sarcoma of the kidney:
study of eight cases.Diagn
Cytopathol. 2005 Aug;33(2):83-9.
The largest
series, to date, of fine-needle aspiration cytology (FNAC) findings in
clear-cell sarcoma of the kidney (CCSK) is presented. All fine-needle
aspirates of pediatric renal masses over a 17-yr period were reviewed.
Eight out of 119 aspirates from late-stage childhood renal tumors
(6.72%) were found to be CCSK. Ten aspirates from these eight patients
and histopathological confirmation in six patients were available.
Aspirates were cellular with three cell types: cord cells, septal
cells, and small pyknotic cells. Cord cells, seen in all aspirates,
were large polygonal cells with abundant eccentrically placed wispy
cytoplasm, round to oval nuclei, and fine dusty chromatin. Occasional
bare nuclei and frequent nuclear grooves were also seen. Small
pyknotic cells were a degenerative change identified in 9 out of 10
aspirates. Stromal fragments with branching vascular cores were seen
in 8 out of 10 aspirates, 6 of which had myxoid substance surrounding
the vessel. Septal cells were spindle shaped and usually embedded in
the stromal fragments. On the basis of cytology and histology, cases
were classified into classical CCSK (5 cases), spindle-cell CCSK (1
case), and anaplastic CCSK (2 cases). Classical CCSK showed mostly
cord cells with few stromal fragments. Spindle-cell CCSK showed
preponderance of myxoid stromal fragments and septal cells. Anaplastic
CCSK showed bizarre pleomorphic nuclei, coarse chromatin, and atypical
mitosis. Cytology of CCSK is a spectrum with varying proportions of
cord cells, septal cells, and mucopolysaccharide substance. Anaplastic
CCSK is liable to misdiagnosis as Wilms tumor (WT) with unfavourable
histology. Presence of eccentric cytoplasm in cord cells and nuclear
grooves are the key to differentiation from Wilms tumor, including
anaplastic variants.
Clear cell
sarcoma of the kidney. A study of 13 cases.Arch
Pediatr. 2004 Jul;11(7):794-9.
Clear cell
sarcoma of the kidney (CCSK) also called a "bone-metastasizing renal
tumor of childhood" is the second common pediatric renal neoplasm.
This tumor is associated with a higher rate of relapse and a wider
distribution of metastases than Wilms' tumor. PATIENTS AND METHODS: We
have reviewed records of 13 cases of CCSK among 277 renal tumors (5%)
diagnosed at the children's hospital of Rabat between 1990 and 2002.
RESULTS: The median age at diagnosis was 14 months (5 months-9 years).
The male to female ratio was 5.5:1.00. Abdominal mass, usually the
first physical finding, was associated with hematuria in four cases.
No congenital malformation syndrome or familial Wilms' tumor were
observed. Imaging studies found out seven right and six left
intrarenal processes. Preoperative chemotherapy was given according to
the SIOP9, SIOP93-01 and GFAOP 98 protocols. Twelve of 13 children
underwent nephrectomy. Tumor measurements varied through 450-3450 g
and 7-26 cm. The classic morphologic pattern was seen in nine cases
(69%). The distribution local stage was I: three cases; II: three
cases; III: six cases; IV: one case. Postoperative chemotherapy and
radiotherapy (21 600-30 600 cGy) was done in 10 cases. With a median
follow up of 44 months, four patients showed bone metastases (31%),
four are alive in CR, four are lost for follow up and five died.
CONCLUSION: CCSK remains the pediatric renal tumor most frequently
misdiagnosed. Its aggressiveness and its ability to give bone
metastases need to recognize early this diagnosis for an adapted
treatment.
Genetic
and genetic expression analyses of clear cell sarcoma of the kidney.Lab
Invest. 2003 Sep;83(9):1293-9.
Clear cell
sarcoma of the kidney (CCSK) represents a significant diagnostic and
clinical challenge. In search of diagnostically useful or biologically
significant genetic abnormalities, we screened 30 CCSKs from the
National Wilms Tumor Study Group. Genetic gains and losses were
analyzed using comparative genomic hybridization; loss of
heterozygosity at 11p15 was studied using microsatellite analysis.
Loss of imprinting (LOI) was studied using allele-specific expression
or methylation analysis at the ApaI polymorphic site for IGF2, AluI
and RsaI sites for H19, and Cfo I site for SNRPN. Comparative genomic
hybridization analysis revealed quantitative abnormalities in only 4
of 30 CCSKs. Two showed gain of 1q, one also showed loss of 10q, and
the other also showed loss of terminal 4p. The other two cases
demonstrated chromosome 19 loss and chromosome 19p gain, respectively.
All 22 cases informative for 11p15 showed retention of both alleles.
Of 14 CCSKs informative for IGF2, six showed biallelic expression; all
three CCSKs informative for H19 exhibited monoallelic expression. The
normal imprint pattern was present in all six CCSKs analyzed for SNRPN
methylation. These data demonstrate an absence of consistent genetic
gains or losses in CCSKs using these methods. The high frequency of
LOI for IGF2 in CCSKs (43%) is comparable to that reported in Wilms
tumors. The retention of imprinting at the SNRPN and H19 loci confirm
that LOI is not a ubiquitous epigenetic change. This suggests that
IGF2, a potent growth factor, may play a role in the development or
progression of CCSK.
A
clinicopathological study of clear cell sarcoma of the kidney.Zhonghua
Bing Li Xue Za Zhi. 2001 Dec;30(6):422-5.
OBJECTIVE: To
study the clinicopathological, immunohistochemical features and the
histogenesis of clear cell sarcoma of the kidney (CCSK). METHODS: CCSK
specimens from 45 pediatric cases, including 31 male and 14 female
with an age range from 3 months to 12 years (mean of 3.2 years), were
retrieved. Routine pathological, immunohistochemical and electron
microscopic methods were utilized to analyze the CCSK specimens.
RESULTS: 35 of the 45 cases were followed from 6 to 192 months. 15
patients presented with bone metastases, 6 had lung or liver
metastases, 8 recurred and 20 died. Age and clinical stage at
diagnosis correlated with the rate of survival. Histologically, the
classic pattern of CCSK consisted of cells with pale cytoplasm, fine
nuclear chromatin and indistinct nucleoli separated by an arborizing
fibrovascular stroma. Other patterns were identified, including myxoid,
spindle, palisading, epithelioid, sclerosing, cellular, cystic, and
angiectatic. All tumors contained multiple patterns.
Immunohistochemically, all cases were positive for vimentin, but
negative for EMA, CK, desmin, actin, S-100, NSE, CD99, CD34 and LCA.
Electron microscopy of 9 cases showed features of primitive cell
conjunction and few organelles. CONCLUSION: CCSK is a common renal
neoplasm of childhood. CCSK may arise from renal mesenchymal cells and
has the propensity to metastasize to the bone with poor clinical
outcome.
Clear cell
sarcoma of the pediatric kidney: detailed description and analysis of
variant histologic patterns of a tumor with many faces.Adv
Anat Pathol. 2001 Mar;8(2):98-108.
Clear cell
sarcoma of the kidney is the most frequently misdiagnosed renal tumor
in children. The majority of tumors present the classic histologic
pattern, which allows a definitive diagnosis. However, there are
unusual cases with lack of "clear" appearance of tumor cells,
predominance or exclusive presence of variant histologic patterns, and
presence of "neoplastic" appearing entrapped tubules. Furthermore, a
small biopsy specimen may not show the classic histologic pattern.
These tumors present a diagnostic challenge for the practicing
pathologist who should be aware of the deviations from the classic
histologic features in order to make a correct diagnosis.
Clear cell
sarcoma of kidney in an adolescent and in young adults: a report of
four cases with ultrastructural, immunohistochemical, and DNA flow
cytometric analysis.Am
J Surg Pathol. 1999 Dec;23(12):1455-63.
Clear cell
sarcoma of the kidney is a distinct, highly malignant pediatric
neoplasm. Its occurrence in adults is extremely rare and the subject
of isolated case reports. We present a series of four cases (three
males and one female) identified in an adolescent and in young adults
(16, 18, 20, and 25 years) with flank mass (three cases), hematuria
(two cases), flank pain (two cases), and hypertension (one case).
Three patients had stage III disease and one had stage I disease
(National Wilms' Tumor Study staging system). All tumors had
predominantly or exclusively the classic histology of a monotonous
proliferation of uniform small round cells with evenly distributed
fine chromatin, although focal microcyst formation (two cases) and
spindled architecture (one case) (variant patterns) were also noted.
Therapy in all cases consisted of surgery and chemotherapy with or
without radiation. Follow-up data (29-202 months) showed distant
metastases in all four cases, including the lung (four cases), bone
(two cases), and the liver (two cases). Three patients died of disease
at 29, 59, and 63 months (mean, 50.3 months), and one patient is alive
with no evidence of disease at 202 months. Ultrastructural features
included scattered primitive junctions, short and irregular
cytoplasmic extensions, and scant to a moderate amount of
mitochondria. Immunohistochemical study (three cases) showed
immunoreactivity with vimentin (two cases) and no reaction with
cytokeratin, epithelial membrane antigen, S-100 protein, or desmin.
Flow cytometric analysis showed diploid DNA content in three primary
tumors and tetraploidy in one metastatic tumor. The proliferative
activity (S-phase fraction) was low to intermediate (mean, 9.8%). Our
data suggest that clear cell sarcoma of the kidney in the young adult
age group resembles its pediatric counterpart in ultrastructural and
immunohistochemical characteristics, proclivity for skeletal and
visceral metastasis, DNA diploid status with relatively low S-phase,
and aggressive clinical course. Clear cell sarcoma of the kidney in
adult patients, although rare, must be differentiated from sarcomatoid
carcinoma, sarcomas, and round cell tumors because of its unique
characteristics in comparison to other renal neoplasms.
Clear cell
sarcoma of the kidney: an unusual presentation and review of the
literature.J
Pediatr Hematol Oncol. 1998
Mar-Apr;20(2):165-8.
PURPOSE: To
describe a child with clear cell sarcoma of the kidney (CCSK) with an
unusual presentation, including a primary tumor of the left kidney
with metastases to the right kidney and soft tissues of the lower
extremities, and to review the literature. PATIENT AND METHODS: An
8-month-old infant presented with hypertension, an abdominal mass, and
soft tissue masses in the left thigh and right foot. Imaging studies
revealed a large left-sided renal tumor, left paravertebral soft
tissue masses, and left thigh mass. At laparotomy, a lesion was noted
in the lower pole of the contralateral kidney. CCSK with metastases to
the contralateral kidney and to the soft tissues of left thigh, right
foot, and left paravertebral region was diagnosed on histopathologic
examination. RESULTS: Multimodal oncologic treatment included surgery,
chemotherapy, and radiotherapy. Three months after completion of
therapy, a soft tissue lesion in the left arm and, later, soft tissue
lesions involving multiple parts of the body developed. The patient
died 18 months after diagnosis without clinical or radiographic
evidence of bone involvement. CONCLUSIONS: In a review of the
literature, CCSK is most commonly associated with bone and lung
metastases. Soft tissue involvement is uncommon. Metastasis to the
contralateral kidney at initial diagnosis has not previously been
reported. This case represents an unusual metastatic pattern of CCSK.
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