A role for fluorescence in situ hybridization detection of chromosome 22q dosage in distinguishing atypical teratoid/rhabdoid tumors from medulloblastoma/central primitive neuroectodermal tumors

Bruch, Leslie A.; Hill, D. Ashley; Cai, Dan X.; Levy, Beth; Dehner, Louis P.; Perry, Arie

doi:10.1053/hupa.2001.21572

Cited by 92 publications

(56 citation statements)

References 11 publications

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“…However, recent data have shown that malignant rhabdoid tumor and atypical teratoid/rhabdoid tumor, in particular, share a characteristic genetic background with biallelic inactivation of the INI1/hSNF5 tumor suppressor gene on chromosome 22q11.2 in most cases. [15][16][17][18][19][20][21][22][23][24] A congenital disseminated form has also been recognized and is often associated with mutations of the same gene.…”

Section: Discussionmentioning

confidence: 99%

“…The 29-year-old patient was an unlikely candidate for a diagnosis of malignant rhabdoid tumor, although not impossible, since we and others have encountered rare examples in adult patients. 20,[39][40][41][42][43][44][45][46][47][48][49][50] Lastly, INI1/hSNF5 mutation analysis was also attempted on this case, but the DNA did not amplify well (data not shown). In a recent study of pediatric CNS tumors, there was one case of an oligodendroglioma with loss of expression and a second case of mixed oligoastrocytoma with focal loss.…”

Section: Discussionmentioning

confidence: 99%

“…2,[8][9][10][11][12][13][14] Both malignant rhabdoid tumor and atypical teratoid/rhabdoid tumor have a distinct predilection for infants and young children (including congenital and disseminated presentations), a highly aggressive biology with short survival times, a polyphenotypic immunoprofile, and characteristic deletions and mutations (somatic or germline) involving the INI1/ hSNF5 tumor suppressor gene on chromosome 22q11.2. 11,[15][16][17][18][19][20][21][22][23][24] Although the histogenesis is unknown, it is likely that the malignant rhabdoid tumor and atypical teratoid/rhabdoid tumor represent the same basic neoplasm, differing only in the appellation assigned for different sites of origin. The secondary rhabdoid phenotype is most often found in neoplasms of adults and has been encountered in a variety of parent neoplasms, including carcinomas, melanomas, sarcomas, desmoplastic small round cell tumors, neuroblastomas, meningiomas, and gliomas.…”

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“…We have previously shown that FISH analysis for the detection of 22q deletions is a useful technique in this differential diagnosis and is applicable to formalin-fixed paraffin-embedded tissue. 7,9,20 Nevertheless, this assay is limited by the fact that it is not yet widely available, 20-30% of malignant rhabdoid tumors and atypical teratoid/ rhabdoid tumors have no detectable deletions, and occasional composite rhabdoid tumors harbor deletions. 7 The latter is particularly relevant for parent tumors that normally have a high frequency of 22q deletions, such as meningioma.…”

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INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas

et al. 2005

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Rhabdoid cells are encountered in specific entities, such as malignant rhabdoid tumor and atypical teratoid/ rhabdoid tumor, as well as in composite rhabdoid tumors derived secondarily from other tumor types. Although rhabdoid tumors are uniformly aggressive, distinction of the entity from the phenotype remains important for its therapeutic implications. The majority of malignant rhabdoid tumors and atypical teratoid/rhabdoid tumors affect infants and young children, harbor chromosome 22q deletions, and inactivate the INI1/hSNF5/BAF47 tumor suppressor gene on 22q11.2. In contrast, most composite rhabdoid tumors are diagnosed in adults, with FISH detectable 22q losses the exception rather than the rule. However, this assay remains limited since 22q dosages are maintained in 20-30% of malignant rhabdoid tumors and atypical teratoid/rhabdoid tumors. Furthermore, chromosome 22 losses are common in some parent tumor types, particularly meningiomas. The recently developed INI1 antibody shows loss of nuclear expression in malignant rhabdoid tumors and atypical teratoid/rhabdoid tumors, though its status in composite rhabdoid tumors is largely unknown. Therefore, we utilized immunohistochemistry and FISH to study INI1 expression and 22q dosages, respectively, in 40 composite rhabdoid tumors, including 16 meningiomas, 15 carcinomas, three melanomas, two sarcomas, two glioblastomas, and 1 neuroblastoma. Approximately 70% of rhabdoid meningiomas had a 22q deletion, but this was rare in other tumor types. Except for one retroperitoneal leiomyosarcoma, nuclear INI1 expression was retained in all composite rhabdoid tumors, including meningiomas with 22q deletion. Therefore, we conclude that INI1 immunohistochemistry is a relatively simple, sensitive, and specific technique for distinguishing malignant rhabdoid tumor and atypical teratoid/rhabdoid tumor from composite rhabdoid tumor. Modern Pathology (2005) 18, 951-958.

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confidence: 99%

Section: Discussionmentioning

confidence: 99%

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INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas

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“…Dual-color FISH experiments were performed as previously reported (27). After deparaffinization, the sections were subjected to target retrieval by steam cooking in citrate buffer for 20 minutes, followed by a 20-minute cool-down period and a 5-minute wash (distilled water).…”

Section: Fluorescence In Situ Hybridizationmentioning

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Differential Involvement of Protein 4.1 Family Members DAL-1 and NF2 in Intracranial and Intraspinal Ependymomas

et al. 2002

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Ependymomas are malignant CNS neoplasms with highly variable biologic behavior, including a generally better prognosis for intraspinal tumors. Inactivation of the NF2 gene on 22q12 and loss of its protein product, merlin, have been well documented in subsets of meningiomas and ependymomas. DAL-1, a related tumor suppressor and protein 4.1 family member on 18p11.3, has also been recently implicated in meningioma pathogenesis, though its role in ependymoma remains unknown. Therefore, we evaluated 27 ependymomas (12 intracranial and 15 spinal) using fluorescence in situ hybridization (FISH) and immunohistochemistry (IHC) to determine NF2/merlin and DAL-1/DAL-1 status at the DNA and protein levels. Demonstrable NF2 and DAL-1 gene deletions were each detected in 6 (22%) ependymomas. All 5 merlin losses by IHC occurred in spinal ependymomas (P ‫؍‬ .047), whereas 5 (71%) DAL-1-negative cases were intracranial (P ‫؍‬ .185). The former result is consistent with prior observations that NF2 mutations are generally limited to spinal ependymomas. In contrast to meningiomas, simultaneous merlin and DAL-1 losses were not encountered. Our findings suggest that (1) NF2 and DAL-1 losses are involved in the pathogenesis of spinal and intracranial ependymoma subsets, respectively and (2) given the number of cases with no demonstrable losses, other cellular perturbations must also be critical for tumorigenesis.

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Medullomyoblastoma: A radiographic and clinicopathologic analysis of six cases and review of the literature

Helton

Fouladi

Boop

et al. 2004

Cancer

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BACKGROUND Medullomyoblastoma (MMB) is a rare cerebellar embryonal neoplasm that occurs almost exclusively in children. It is biphasic by microscopy, containing myoblastic and primitive neuroectodermal components. METHODS The authors conducted a retrospective review of the radiographic and pathologic characteristics, treatment, and clinical outcomes of six children with MMB who were treated at St. Jude Children's Research Hospital (Memphis, TN) between 1984 and 2003. Fluorescence in situ hybridization (FISH) data were available for four children. A literature review also was conducted and focused on imaging and pathologic findings. RESULTS The median age at diagnosis was 4.5 years (range, 0.83–7.5 years). Radiographically, all tumors were cerebellar and exhibited variable enhancement, and 50% of tumors had necrotic foci. Three tumors contained discrete, magnetic resonance imaging (MRI) T2‐weighted–hypointense/computed tomography (CT)‐hyperdense enhancing regions and separate hyperintense/hypodense nonenhancing regions, which correlated microscopically with geographic islands of primitive neuroectodermal and rhabdomyoblastic cells. Large cell/anaplastic (five tumors), nodular/desmoplastic (two tumors), and classic (two tumors) medulloblastoma histologies were encountered either alone (five tumors) or in combination with each other (two tumors). All 4 tumors that were tested exhibited alterations in chromosome 17 or c‐myc amplification. All patients underwent macroscopic total resection and subsequently received chemotherapy and craniospinal (five patients) or local conformal (one patient) radiotherapy. At a median follow‐up of 92 months (range, 23–187 months), 3 patients remain alive with no evidence of disease, 2 patients have died of disease, and 1 patient has died of secondary acute lymphocytic leukemia. CONCLUSIONS The results of the current study demonstrated the frequent correlation of biphasic nodularity (as determined by MRI or CT) with discrete rhabdomyoblastic and primitive neuroectodermal islands (as revealed by microscopy) in MMB. These results also support the view that MMB and medulloblastoma may have common tumorigenic origins, given their similar histologic and molecular features. Cancer 2004. © 2004 American Cancer Society.

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A role for fluorescence in situ hybridization detection of chromosome 22q dosage in distinguishing atypical teratoid/rhabdoid tumors from medulloblastoma/central primitive neuroectodermal tumors

Cited by 92 publications

References 11 publications

INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas

INI1 expression is retained in composite rhabdoid tumors, including rhabdoid meningiomas

Differential Involvement of Protein 4.1 Family Members DAL-1 and NF2 in Intracranial and Intraspinal Ependymomas

Medullomyoblastoma: A radiographic and clinicopathologic analysis of six cases and review of the literature

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