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High-density single nucleotide polymorphism
array analysis in patients with germline deletions of 22q11.2 and
malignant rhabdoid tumor.Hum
Genet. 2007 May 31;
Malignant rhabdoid tumors are highly aggressive neoplasms found
primarily in infants and young children. The majority of rhabdoid
tumors arise as a result of homozygous inactivating deletions or
mutations of the INI1 gene located in chromosome band 22q11.2.
Germline mutations of INI1 predispose to the development of
rhabdoid tumors of the brain, kidney and extra-renal tissues,
consistent with its function as a tumor suppressor gene. We now
describe five patients with germline deletions in chromosome band
22q11.2 that included the INI1 gene locus, leading to the
development of rhabdoid tumors. Two patients had phenotypic
findings that were suggestive but not diagnostic for DiGeorge/Velocardiofacial
syndrome (DGS/VCFS). The other three infants had highly aggressive
disease with multiple tumors at the time of presentation. The
extent of the deletions was determined by fluorescence in situ
hybridization and high-density oligonucleotide based single
nucleotide polymorphism arrays. The deletions in the two patients
with features of DGS/VCFS were distal to the region typically
deleted in patients with this genetic disorder. The three infants
with multiple primary tumors had smaller but overlapping
deletions, primarily involving INI1. The data suggest that the
mechanisms underlying the deletions in these patients may be
similar to those that lead to DGS/VCFS, as they also appear to be
mediated by related, low copy repeats (LCRs) in 22q11.2. These are
the first reported cases in which an association has been
established between recurrent, interstitial deletions mediated by
LCRs in 22q11.2 and a predisposition to cancer.
Clinicopathologic
study of renal cell carcinoma with rhabdoid features.Zhonghua
Bing Li Xue Za Zhi. 2007
Mar;36(3):166-70.
OBJECTIVE: To study the clinicopathologic features and biologic
behavior of renal cell carcinoma (RCC) with rhabdoid features.
METHODS: Ten cases of RCC with rhabdoid features collected during
the period from 1995 to 2005 were enrolled into the study. The
clinical findings were analyzed and the hematoxylin and
eosin-stained sections were reviewed. Immunohistochemistry and
electron microscopy were also performed. RESULTS: The age of
patients ranged from 33 to 69 years (mean age = 52 years). Nine of
the patients were males and 1 female. Five patients showed
evidence of perinephric invasion. Two patients presented with
regional lymph node metastases and 1 patient showed distant
metastasis to the lung. Histologically, the rhabdoid foci were
characterized by loosely cohesive trabeculae, acini, lobules and
clusters of rhabdoid cells in otherwise clear cell RCC (9 cases)
or papillary RCC (1 case). The rhabdoid cells were round to
polygonal in shape and contained globular eosinophilic inclusion
bodies in the cytoplasm, eccentric nuclei, vesicular chromatin
pattern and prominent nucleoli. Coagulative tumor necrosis was
commonly seen. Immunohistochemical study showed that the rhabdoid
cells were diffusely positive for CD10 (10/10), cytokeratin
AE1/AE3 (10/10), epithelial membrane antigen (10/10) and vimentin
(10/10). Focal staining for neuron-specific enolase and S-100
protein was also noted. They were negative for CK7, CK20 and
myogenic markers (including myogenin, smooth muscle actin and
muscle-specific actin). The mean Ki-67 labeling index of the
rhabdoid component was higher than that of the non-rhabdoid
component (P < 0.05). Follow-up information was available in 8
patients. While 6 patients are still alive without recurrence, 2
patients died of the disease 6 and 29 months respectively after
the operation. CONCLUSIONS: RCC with rhabdoid elements are mainly
observed in clear cell RCC and need to be distinguished from
oncocytic renal tumors and malignant rhabdoid tumor of kidney. The
higher proliferative activity in the rhabdoid areas may indicate
more aggressive biologic behavior.
Rhabdoid tumor of the
kidney with spontaneous rupture: case report and review of
literature.Pediatr Surg
Int. 2007 May 10;
Spontaneous rupture of the kidney is uncommon; here we report a
case of spontaneous rupture of the kidney due to a rhabdoid tumor.
An 11-year-old boy presented with left flank pain and hematuria,
was admitted to a hospital where he was found to have an
abnormality of the left kidney on computed tomography (CT) scan.
He was referred to our department for further evaluation and
treatment on the next day. Spontaneous rupture of left renal tumor
was suspected by a drop in hemoglobin level, hemoglobin decreased
from 9.2 to 7.6 mg/dl within 72 h. The hemoglobin level continued
to drop despite blood transfusion. Urgent trans-abdominal
exploration of the left kidney was performed. During the
operation, rupture of left renal tumor with massive bleeding was
noted. Para-aortic lymph node metastasis is evident. The surgical
specimen contained a large peri-renal hemorrhage and tumor rupture
into peri-pelvic soft tissue. Histopathological diagnosis was
rhabdoid tumor consisting of round nuclei, prominent nucleoli and
eosinophic cytoplasm. Two courses of adjuvant chemotherapy with
actinomycin D, vincristine and epirubicin and radiotherapy (1,200
cGY) were performed post-operatively. The patient died 5 months
after operation due to metastasis of the tumor to the lung and
intra-abdominal organs.
P-Akt
expression distinguishes two types of malignant rhabdoid tumors.J
Cell Physiol. 2006 Nov;209(2):422-7.
Highly
aggressive pediatric malignant rhabdoid tumors (MRT) arise in the
kidney and central nervous system (CNS) with no curative treatment
available. Multiple studies have shown that inactivation of the
SNF5 tumor suppressor gene occurs in virtually all MRTs. However,
few studies have addressed whether additional genetic events may
contribute to MRT development. In this report, we demonstrate that
phosphorylated Akt (P-Akt) is expressed in a subpopulation of
cells in at least 10% of primary rhabdoid tumors as well as at
high levels in three MRT cell lines. Similar to other high P-Akt
expressing tumor cell lines, MRTs have decreased sensitivity to
p21 induced growth arrest. Therefore, P-Akt expression may
distinguish between two types of MRTs. Because drugs directed
against the PI3-K/Akt have shown promise in clinical trials for
other tumor types, they may prove useful for treatment of patients
with P-Akt positive MRTs. P-Akt expression also provides a
potential mechanistic link between these pediatric tumors and
adult malignancies.
Rhabdoid
tumour of the kidney in children.Prog
Urol. 2004 Feb;14(1):55-8.
Rhabdoid
tumour of the kidney is an extremely rare cancer in children,
which raises aetiopathogenic, diagnostic and therapeutic problems.
Treatment of this tumour is not well defined and its prognosis
remains poor despite progress in paediatric oncology. The authors
report a new case of neonatal rhabdoid tumour of the kidney, with
a rapidly fatal outcome and present a review of the literature.
Prenatal
sonographic features of a rhabdoid tumor of the kidney.
Ultrasound Obstet Gynecol. 2004
Apr;23(4):407-10.
Rhabdoid
tumors of the kidney are highly lethal malignancies of infancy. We
report the prenatal detection of a renal rhabdoid tumor with
mesoblastic components in a fetus at 27 weeks of gestation. The
tumor presented as a large mass in the left renal area and there
was concomitant massive polyhydramnios. Though the sonographic
features alone did not allow distinction from a benign lesion, the
aggressive tumor growth indicated malignancy. Amniotic fluid
cytology was performed but failed to confirm the diagnosis.
Corticosteroids were administered for lung maturation. Tocolysis,
including betamimetics, magnesium and indomethacin, was performed
to prevent premature labor. Additionally, serial amniodrainage was
performed. At 30 weeks of gestation fetal hydrops developed and a
Cesarean section was performed. After delivery, ventilation of the
preterm infant was insufficient due to diaphragm elevation by the
huge tumor, requiring immediate tumor surgery. However, though
ventilation was improved the infant died of cardiac failure 4 h
after surgery.
Rhabdoid
tumors of the kidney in childhood.Rofo.
2004 Jul;176(7):965-71.
PURPOSE:
The primary diagnosis of renal masses in children is made by
imaging studies. This retrospective analysis describes the imaging
features of rhabdoid tumors (RT) with US, CT and MRI, to point out
characteristics and to evaluate the possibility of differentiation
between RT and Wilms tumor. MATERIALS AND METHODS: We reviewed 10
MRI (6 STIR, 9 T1 w, 8 T2 w, 10 T1 post KM), 15 CT (9 Nativ-CT, 14
KM-CT) and 14 US images of 22 patients (age 2 - 57 months) with
histopathologically confirmed RT. The following characteristics
were evaluated: subcapsular fluid collection, multiple tumor
lobules, presence of calcification, primary tumor size, visibility
of tumor margin, tumor necrosis and metastases. RESULTS: The mean
total tumor volume was 238 ml. 19 RT were located in the perihilar/medullary
region with invasion of the renal hilum, and 5/22 tumors showed
multiple tumor lobules. Subcapsular fluid collection was found in
6/22 cases. Calcifications were present in 6/19. Eleven tumors
were well defined from the renal parenchyma, 9 poorly defined, 2
could not be assessed. In 19/22 cases tumor necrosis was found.
Distant metastases were seen in 8 cases in the lung, in 3 cases in
the CNS. Metastases of regional lymph nodes were seen in 9 cases.
CONCLUSION: The evaluated characteristics frequently found in RT
are not indicative of these tumors. RT cannot clearly be
differentiated from Wilms tumor by imaging studies. Because of
frequent involvement of the CNS and lung, a MRI of the CNS and CT
of the lung is indicated after histopathologic diagnosis of RT is
made.
Malignant
rhabdoid tumor of the kidney in an adult: a case report and review
of the literature.
Arch Pathol Lab Med.
2003 Sep;127(9):e371-3.
Malignant
rhabdoid tumor of the kidney is an uncommon renal tumor in
children. The tumor has aggressive behavior and a poor prognosis
and is extremely rare in adults; only 3 cases of renal rhabdoid
tumors have been reported in adults. We describe here the
microscopic, immunohistochemical, and electron microscopic
characteristics of another case in a 38-year-old woman. This case
reinforces the importance of recognizing this entity in the adult
population.
Cytologic
profile of rhabdoid tumor of the kidney. A report of 3 cases.Acta
Cytol. 2003 Nov-Dec;47(6):1055-8.
BACKGROUND: Malignant rhabdoid tumor of the kidney (MRTK) is a
rare malignant neoplasm that usually presents as an abdominal
mass. The histogenesis is uncertain, and cases outside the kidney
have been reported. An association with separate primary tumors of
primitive neuroepithelial origin occurring in the midline of the
posterior or middle cranial fossa has been reported in
approximately 15% of cases. CASES: Three patients, a 7-month-old
girl and two boys, aged of 6 and 2 months of age, underwent fine
needle aspiration biopsy (FNAB) for the diagnosis of renal masses.
In 2 cases the smears revealed round to polygonal cells, singly or
arranged in irregularly shaped clusters. The neoplastic cells did
not differ much in shape and exhibited clear, empty nuclei with
prominent nucleoli; the cytoplasm was abundant and sometimes
eosinophilic. In the remaining case the aforementioned
characteristics of the nuclei and cytoplasm were not as prominent,
and sheets of fibrovascular stroma, with attached neoplastic
cells, were seen. Diagnosis of MRTK was suspected in every case
based upon morphology and immunocytochemistry; the diagnosis was
histologically confirmed in the surgical specimens. CONCLUSION:
MRTK may pose diagnostic problems due to its broad morphologic
spectrum. Distinction from Wilms' tumor and clear cell sarcoma of
the kidney is essential for therapeutic proposes. The results
obtained in the FNAB study of these 3 cases demonstrate that
diagnosis of MRTK may be proposed from fine needle aspiration
smears using conventional methods together with ancillary ones (immunocytochemistry
and electron microscopy).
Establishment and characterization of malignant rhabdoid tumor of
the kidney.Oncol
Rep. 2001 Jan-Feb;8(1):43-8.
Malignant
rhabdoid tumor of the kidney (MRTK) is a highly aggressive tumor
which occurs in childhood and which is histologically
characterized by the existence of eosinophilic intracytoplasmic
inclusions. We established and characterized a cell line from this
tumor with histological, immunohistochemical and cytogenetical
analysis. Histologically, the tumor cells demonstrate typical
eosinophilic inclusions, while immunohistochemically the cells
demonstrate common mesenchymal and epithelial differentiation.
Although the conventional karyotyping of this tumor lacked the
abnormalities of 22q chromosome, Southern blot analysis and
microsatellite analysis verified abnormalities of the BCR gene and
of the hSNF5/INI1 gene. Despite the variety of locations, these
common genetic abnormalities appear to contribute to distinguish
rhabdoid tumor from such other small round cell tumors as
primitive neuroectodermal tumor, rhabdomyosarcoma, poorly
differentiated synovial sarcoma and desmoplastic small round cell
tumor.
Malignant
rhabdoid tumor: A phenotype? An entity?--A controversy revisited.:
Adv Anat Pathol.
2000 May;7(3):181-90.
The
term malignant rhabdoid tumor (MRT) has been used to describe a
heterogeneous group of neoplasms, having in common distinct
so-called "rhabdoid" cytologic features. The recent discovery of a
candidate tumor suppressor gene for MRT, INI1 on chromosome
(Ch)22q11.2, has re-established this neoplasm as a distinct
entity. Malignant rhabdoid tumor may arise either de novo from
nonneoplastic cells or through tumor progression from other types
of neoplasms. These latter tumors, in which other nonrhabdoid
tumor components are identified, may be termed composite MRT. In
order to avoid misdiagnosing MRT as other types of neoplasia, one
must keep in mind three distinct clinicopathologic features--young
age of onset, variable histologic and immunohistochemical
patterns, and an aggressive infiltrative character. In difficult
cases, cytogenetics, fluorescence in situ hybridization (FISH),
and molecular genetic analysis may assist in diagnosing MRT.
Rhabdoid tumor
of kidney. A report of 111 cases from the National Wilms' Tumor
Study Pathology Center.Am
J Surg Pathol. 1989 Jun;13(6):439-58.
We review 111
cases of rhabdoid tumor of kidney (RTK), including 79 entered on
the National Wilms' Tumor Study (NWTS). Median age at diagnosis
was 11 months, with a range from 0 to 106 months. The male:female
ratio was 1.5:1. Gross features included a characteristic
involvement of perihilar renal parenchyma. A wide histological
spectrum was encountered, including nine major morphological
patterns (classical, epithelioid, sclerosing, lymphomatoid,
histiocytoid, etc.). These appearances invite confusion with other
renal neoplasms. Ultrastructural studies were performed in 20
cases; immunocytochemical studies were performed in 11. Vimentin
was demonstrated in all tumors; epithelial membrane antigen was
seen in 7. Nonspecific decoration of cytoplasmic inclusions by a
variety of immunostains was found in several cases. Several
findings suggested that RTK might arise from primitive cells
involved in formation of the renal medulla. There was no evidence
of a histogenetic relationship to Wilms' tumor, although RTK may
overlap with mesoblastic nephroma and clear cell sarcoma. Of the
70 NWTS patients with adequate follow-up, 56 (80%) have died.
Every patient presenting with distant metastases died, whereas 10
of 20 with negative nodes survived. Survival rates were higher for
girls (56.3% versus 11.1%). None of the histological variables had
independent prognostic significance.
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