SMARCB1/INI1-deficient tumors of adulthood

Parker, Nathaniel; Al-Obaidi, Ammar; Deutsch, Jeremy M.

doi:10.12688/f1000research.24808.2

Cited by 15 publications

(4 citation statements)

References 127 publications

(50 reference statements)

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“…5 Their mutation results in loss of INI 1 expression. 6,7 It most commonly affects kidney and brain but in adult type Rhabdoid tumor principal site of involvement are the skin, soft tissue, neck, pharynx, oral cavity, and larynx. Isolated example has been encountered in the somatic muscle of lateral neck, the lower lip and cheek.…”

Section: Discussionmentioning

confidence: 99%

Rhabdoid tumor of cheek in an adult patient: A rare case report

Verma

Zaidi²,

Irfan³

et al. 2022

ACHR

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Rhabdoid tumor is relatively rare highly malignant tumor in adult older than 40 years, therefore treatment regimens often throwing from pediatric age group. It is characterized by extremely aggressive behavior, rapid metastasis to other organ, low survival rate and no targeted therapy. So, early diagnosis is necessary for better treatment and reduce mortality outcome. A 42 years male suffering from a right side cheek mass of 5x3cm associated with tongue displacement to left side and difficulty in swallowing. After complete removal of lesion for histopathological examination, revealed grossly the tumor is well defined gray-white, round, lobulated 5x3cm in size having infiltrating borders. Cut surface shows gray-white to gray-brown, solid areas. Microscopically H&E stained section revealed, sheets of tightly packed large, discohesive, polygonal cells having abundant eosinophilic cytoplasm with eccentrically placed round nuclei showing distinct prominent vesicular nucleoli separated by thin fibrous septae with blood vessels. These cells lie in myxoid background. These tumor cells have deeply acidophilic having finely granular abundant cytoplasm with small, peripherally placed nuclei and abundant intra-cytoplasmic vacuoles along with nuclear pleomorphic, no mitotic figure seen. Histologically, the adult type tumor proliferating as sheet of tightly packed large, discohesive, polygonal cells having abundant eosinophilic cytoplasm with eccentrically placed round nuclei showing distinct prominent vesicular nucleoli separated by thin fibrous septae with blood vessels lie in fibromyxoid background. These tumor cells have deeply acidophilic, finely granular cytoplasm with small, peripherally placed nuclei with occasional intra-cytoplasmic vacuoles along with cross striations, no mitotic figures seen. Study concludes that adult type Rhabdoid tumors have extremely aggressive behavior, rapid metastasis spread to other organs, low survival rate and no targeted therapy. Usually males older than 40years of age are affected. It is crucial to make a rapid correct diagnosis and early treatment may improve the outcome.

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Section: Discussionmentioning

confidence: 99%

Rhabdoid tumor of cheek in an adult patient: A rare case report

Verma

Zaidi²,

Irfan³

et al. 2022

ACHR

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“…Також його називають INI1 (integrase interactor 1). Серед мутацій, що виникли «de novo» 10% вражають також вищезазначений ген і 30% вражають ген LZTR-1 (Leucine Zipper Like Transcription Regulator 1) у локусі 22q11.21, інші мутації знаходяться на стадії вивчення [2,4,5].…”

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“…Для шванноматозу у свою чергу характерні множинні шванноми, які зазвичай супровождуються сильним болем. Однак, на відміну від NF-2, при цьому виді нейрофіброматозу не виявляються невроми слухового нерву [4,5].…”

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Нейрофіброматози: Комплексний Погляд На Групу Захворювань

Товкес¹

2023

Grundlagen Der Modernen Wissenschaftlichen Forschung

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“…The SMARCB1 gene is also called INI1 (Integrase Interactor 1). It translates for a subunit of the SWI/SNF chromatin-remodeling complex, which is ATP-dependent [ 1–7 ].…”

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confidence: 99%

Commentary on: SMARCB1 as a novel diagnostic and prognostic biomarker for osteosarcoma

Sergi

2022

Bioscience Reports

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In the last couple of decades, biomarkers have been on the rise for diagnostic and predictive value. There has been a rush to identify new markers using new technologies and drug repurposing approaches. SMARCB1 acronym arises from the SWI/SNF (SWItch/Sucrose Non-Fermentable) related Matrix-associated Actin-dependent Regulator of Chromatin subfamily B member 1 (SMARCB1). It is a molecule, whose role is associated with the sucrose metabolism. SMARCB1 is also called INI1 (Integrase Interactor 1). The molecule was discovered in the mid-1990s. Its role as a loss-of-function marker for malignant rhabdoid tumors (MRT) of renal and extra-renal origin has enormously expanded the spectrum of involved neoplasms since that time. Several tumors have been characterized by genetic aberrations in the SMARCB1 gene. They include reduction of expression, loss of expression, and mosaic expression. Most of the tumors are sarcomas, but a variegated group of tumors with mixed phenotypes has also been delineated. It is well known that the outcome of patients harboring genetic aberrations in the SMARCB1 gene has been poor. Guo et al. reported that reduced SMARCB1 expression occurred in 70% of osteosarcomas. Their data significantly correlated with poor neo-adjuvant response. These authors emphasize a shorter progression-free and overall survival of the patients demonstrating an altered expression of this gene. Interestingly, mRNA in-silico analysis established that SMARCB1 expression correlates with the response to chemotherapy of osteosarcoma patients, but there was no reliable correlation between SMARCB1 expression level and metastasis, response to neoadjuvant therapy, overall survival, and progression-free survival. The study involved a tissue microarray (TMA) on bone tumors that may limit the full evaluation of the gene expression. Nevertheless, Guo et al.'s study is remarkable. It expands the list of the tumors harboring an altered SMARCB1 gene expression and suggests that this marker should be investigated in every pathology workup for potential predictive value. On the other side, much work needs to be done if we hope that we strive to provide additional therapeutic strategies for osteosarcoma patients with altered SMARCB1 gene expression.

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SMARCB1/INI1-deficient tumors of adulthood

Cited by 15 publications

References 127 publications

Rhabdoid tumor of cheek in an adult patient: A rare case report

Rhabdoid tumor of cheek in an adult patient: A rare case report

Нейрофіброматози: Комплексний Погляд На Групу Захворювань

Commentary on: SMARCB1 as a novel diagnostic and prognostic biomarker for osteosarcoma

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