Adult variant of atypical teratoid/rhabdoid tumor: Immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica

Heras, Facundo Las; Pritzker, Kenneth P.H.

doi:10.1016/j.prp.2010.07.004

Cited by 44 publications

(44 citation statements)

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“…It is thus clinically relevant for endocrinologists, who are usually the primary physicians caring for patients with sellar masses, to identify preoperative diagnostic clues that may lead to the suspicion of sellar AT/RT. Imaging characteristics of AT/RTs and pituitary adenomas are remarkably similar; on MRI, both are isointense with brain parenchyma on T1-weighted imaging and enhance following gadolinium administration (8)(9)(10)(11)(12)(13)(14). Indeed, in all cases of sellar AT/ RT, including the one reported here, the presenting sellar masses are large (~2-3 cm), but MRI usually did not reveal any suspicious features that would suggest tumors other than pituitary adenomas.…”

Section: Discussionmentioning

confidence: 58%

“…There is no specific treatment for sellar AT/RT. Most patients undergo surgical resection followed by radiation therapy and/or chemotherapy, but there is no consensus on the best strategy (8)(9)(10)(11)(12)(13)(14). Stereotactic radiosurgery and external beam radiation are both used, but their efficacies are unclear without a control group (the present case and 9,13).…”

Section: Discussionmentioning

confidence: 95%

“…For example, the absence of immunohistochemical markers S-100 and HMB-45 rules RT can also occur in adults, and its most common primary site is supratentorial (6,7). There have been several reports of primary sellar AT/RT in adults, but they are mostly in the neurosurgical literature and not familiar to endocrinologists (Table 1) (8)(9)(10)(11)(12)(13)(14). There is no specific treatment for sellar AT/RT.…”

Section: Discussionmentioning

confidence: 99%

“…Sellar AR/RT carries a poor prognosis; most patients die within a few years of presentation (Table 1) (8)(9)(10)(11)(12)(13)(14). The grave prognosis of sellar AT/RT is in stark contrast to the benign clinical course of most pituitary adenomas.…”

Section: Discussionmentioning

confidence: 99%

“…The patient was admitted for further evaluation. Her endocrine laboratory values were as follows: prolactin 50.2 ng/mL (normal 3.8-23.2), luteinizing hormone <0.5 mIU/mL (0.6-19), follicle-stimulating hormone 2.9 mIU/ mL (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20), estradiol <20 pg/mL (37-298), thyrotropin 0.60 mIU/mL (0.39-4.60), "low" free thyroxine, morning cortisol 5.4 mcg/dL (6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19), and insulin-like growth factor-1 107 ng/mL (114-492). Pituitary magnetic resonance imaging (MRI) confirmed a large sellar mass measuring 3.3 × 3.2 × 2.3 cm with compression of the optic chiasm and invasion into the left cavernous sinus ( Fig.…”

Section: Case Reportmentioning

confidence: 99%

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Sellar Atypical Teratoid/Rhabdoid Tumor: Any Preoperative Diagnostic Clues?

Lev

Fan

2015

AACE Clinical Case Reports

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Objective: Our objectives were to describe a rare adult-onset sellar atypical teratoid/rhabdoid tumor (AT/ RT) and to identify preoperative diagnostic clues for this aggressive tumor.Methods: A case report and review of the relevant literature.Results: A 36-year-old female presented with headache for 1 month and blurry vision for 6 days. Imaging identified a large sellar mass with suprasellar extension that was indistinguishable from a pituitary adenoma. Hormonal studies revealed hypopituitarism and hyperprolactinemia. A presumptive diagnosis of pituitary macroadenoma was made, but the histologic, immunohistochemical, electron microscopic, and cytogenetic studies of the tumor supported a diagnosis of AT/RT. Despite multiple surgical resections, radiation, and chemotherapy, the tumor recurred and regrew relentlessly. The patient died 2.5 years after presentation.

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Section: Discussionmentioning

confidence: 58%

Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Case Reportmentioning

confidence: 99%

See 3 more Smart Citations

Sellar Atypical Teratoid/Rhabdoid Tumor: Any Preoperative Diagnostic Clues?

Lev

Fan

2015

AACE Clinical Case Reports

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Tumors of the Central Nervous System

Fung

Petropoulou

2014

Pediatric Malignancies: Pathology and Imaging

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Knowledge of normal neuroanatomy and neurodevelopment is critical to proper diagnosis. A few normal structures may be mistaken as tumor particularly on frozen sections.The external granular layer (Fig. 6.1a ) is a layer of small neurons that covers the external surface of fetal/infant cerebellum. It is quite prominent at the time of birth but is almost completely regressed by the ninth postnatal month. It should not be misinterpreted as medulloblastoma or lymphocytic infi ltration in younger infants. The internal granular layer is also composed of small neurons. Without a size comparison, these cells may be mistaken for medulloblastoma or other small blue cell tumors in minute specimens or cytologic preparations. Conversely medulloblastoma cells, particularly those with smaller nuclei, can be mistaken as internal granular cells. Purkinje cells are rather large and should not be mistaken as rhabdoid cells (Fig. 6.1b ). Other normal structures that can be mistaken for neoplastic tissue include the posterior pituitary and the pineal gland which may be mistaken as glial neoplasm and normal choroid plexus being mistaken as choroid plexus papilloma. These misinterpretations are likely to be committed when the specimen is minute and communication between the pathologist and the neurosurgeon is poor. Overview and Classifi cationTumor of the CNS is not uncommon in the pediatric age group and some of these entities occur only rarely in adults (Table 6.1 ). While meningiomas are very common in adults, it is uncommon in children and almost nonexistent in infants. The most common pediatric tumors in descending order of frequency are pilocytic astrocytoma, diffuse astrocytomas, medulloblastomas, and craniopharyngiomas. Ependymal neoplasms and schwannomas are the most frequent infratentorial tumors. Most tumors occur in the brain with a supratentorial-to-infratentorial ratio of approximately 2-to-1. Malignant CNS neoplasms represent 16.6 % of all malignancies in the pediatric age group. In general, the incidence is higher in males than females and among white compared to black children. The incidence is 36.2 per million between infancy and 7 years of age and 21.0 per million between 7 and 10 years of age. As a group, they are the second most frequent malignancy and most common solid tumor in pediatric patients. About 2,200 new cases are diagnosed annually in the United States. Among CNS malignancies, astrocytic tumors account for 52 %, while medulloblastoma and primitive neuroectodermal tumor (PNET), other gliomas, and ependymomas accounted for 21, 15, and 9 %, respectively [ 2 ].In contrast to adults, there is a high occurrence of malignancies in the cerebellum and brain stem in young children. About 40 % of all thalamic tumors arise in patients under 18 years old and account for 2-5 % of all intracranial tumors in children [ 3 ]. About two third or pediatric thalamic tumors are high grade in histology [ 4 ]. Tumor of the spinal cord represents about 9.9 % and extramedullary tumors are slightly more common than intramedullary...

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Maternal embryonal leucine zipper kinase immunoreactivity in atypical teratoid/rhabdoid tumors: a study of 50 cases

et al. 2021

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Atypical teratoid/rhabdoid tumors (AT/RTs) are aggressive embryonal neoplasms of the central nervous system that correspond to WHO grade IV and have a dismal prognosis. The latest Central Brain Tumor Registry of the United States data shows that AT/RT constitutes 16.6% of all embryonal tumors in children. The molecular hallmark of this tumor is pathogenic SMARCB1 genetic alterations resulting in the loss of INI-1 immunopositivity, with fewer tumors harboring SMARCA4 (BRG1) variants. Maternal embryonal leucine zipper kinase (MELK) is a member of the Snf1/AMPK family of serine/threonineprotein kinases involved in various processes such as cell cycle regulation, self-renewal of stem cells, apoptosis, and splicing regulation. Recent studies have highlighted the involvement of MELK in AT/RT and its possible therapeutic role. The purpose of this study was to review the histological and immunohistochemical profile of AT/RT with special reference to MELK staining. In this retrospective study conducted over 6 years, all diagnosed cases of AT/RT, defined by loss of INI-1 immunopositivity, were retrieved and studied. Demographic details of patients and microscopic findings were analyzed, with special attention to histological patterns and immunohistochemistry profile including MELK immunoreactivity. There were 50 cases of AT/RT diagnosed in the specified period. Of the cases operated at our institute during this period, embryonal tumors constituted 20.6% of all pediatric brain tumors with AT/RT representing 12.6% of this subset. The median age at presentation was 3.5 years (range: 8 months-22 years) and there were three adult cases. Males outnumbered females by a ratio of 1.94:1. Tumor location was distributed equally between the supratentorial and infratentorial compartments. Characteristic rhabdoid cells were identified in 70% of cases. Areas with epithelial, mesenchymal, and undifferentiated tumor cells were seen in 8%, 20%, and 52% of cases, respectively. Cells with vacuolated cytoplasm were noted in 28% of cases. Immunohistochemistry (IHC) showed a polyimmunophenotypic profile with immunopositivity for GFAP in 70%, Vimentin in 100%, SMA in 68%, and EMA in 88% of cases, indicating the remarkable heterogeneity of the tumor cells. MELK immunopositivity was noted in 83.33% of cases. Thus, atypical teratoid/rhabdoid tumors are rare neoplasms. In line with other studies, we show that these tumors occur predominantly in very young children and display marked variability on histology and IHC with loss of INI-1. MELK is presumed to be an important molecule involved in cell cycle regulation, proliferation, and other critical functions. High expression of MELK in AT/RT may suggest its plausible role in neoplastic transformation of embryonic and postnatal multipotent neural progenitors which in turn could explain the diverse morphological and immunohistochemical characteristics observed in these tumors.

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Adult variant of atypical teratoid/rhabdoid tumor: Immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica

Cited by 44 publications

References 28 publications

Sellar Atypical Teratoid/Rhabdoid Tumor: Any Preoperative Diagnostic Clues?

Sellar Atypical Teratoid/Rhabdoid Tumor: Any Preoperative Diagnostic Clues?

Tumors of the Central Nervous System

Maternal embryonal leucine zipper kinase immunoreactivity in atypical teratoid/rhabdoid tumors: a study of 50 cases

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