scholarly journals Infantile Extracranial Rhabdoid Tumor of the Scalp

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Sura Al Rawabdeh ◽  
Deifallah Alsharari ◽  
Hayat Khasawneh ◽  
Ola M. Al Waqfi ◽  
Qamar Yaser Malabeh ◽  
...  
Keyword(s):  
Rhabdoid Tumor ◽  
Rare Tumor ◽  
Male Baby ◽  
Multiple Organs ◽  
First Case ◽  
Rhabdoid Cells ◽  
Chemotherapeutic Treatment ◽  
Rhabdoid Tumors ◽  
To Receive ◽  
Scalp Mass

Extracranial rhabdoid tumor is a rare tumor that can originate in multiple organs, and it is most commonly seen in the kidneys. This tumor has a grave prognosis. We report to the best of our knowledge the first case of infantile scalp extracranial rhabdoid tumor in a 6-month-old male baby who presented with a right parietal scalp mass since the age of 1 month. This mass was initially diagnosed as scalp hemangioma based on clinical and imaging findings. However, this mass was growing fast which necessitated excision. Pathologic examination after excision showed a malignant tumor composed of sheets of rhabdoid cells. Immunohistochemically, this tumor tested positive for vimentin, CD 99, glypican-3, synaptopysin, WT-1, CK, and EMA. INI-1 immunostain was lost in the tumor cells. Subsequently, this tumor was pathologically diagnosed as extracranial scalp rhabdoid tumor. After tumor excision, the patient was referred to pediatric oncology to receive chemotherapy. Experience with scalp extracranial rhabdoid tumors is limited. However, this tumor in other organs carries a grave prognosis. Although scalp extracranial rhabdoid tumor is an extremely rare tumor, it should be kept in mind in the differential diagnosis of infantile scalp masses given the need of combined surgical and chemotherapeutic treatment.

scholarly journals Case Report: The Emerging Role of Ring Chromosome 22 in Phelan-McDermid Syndrome With Atypical Teratoid/Rhabdoid Tumor: The First Child Treated With Growth Hormone

2021 ◽  
Vol 12 ◽  
Author(s):  
Marco Crocco ◽  
Marta Panciroli ◽  
Claudia Milanaccio ◽  
Cristina Morerio ◽  
Antonio Verrico ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Ring Chromosome ◽  
Suppressor Gene ◽  
Rhabdoid Tumor ◽  
Chromosome 22 ◽  
First Case ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

Atypical teratoid/rhabdoid tumors (AT/RTs) in the rhabdoid tumor predisposition syndromes are most often caused by germline mutations of the SMARCB1 gene located in chromosome 22q11.2. Although rarely, it can also result from the constitutional ring chromosome 22 (r22): during mitosis the ring chromosome may lead to an increased rate of somatic mutations, resulting in rhabdoid tumor predispositions when the tumor-suppressor gene SMARCB1 is involved. Individuals with r22 may present similar features as those with Phelan-McDermid syndrome (PMDS) due to 22q13.3 deletion, including the SHANK3 gene. Despite several reports on AT/RT in children with r22 and/or PMDS have been published, the role of constitutional r22 as new oncogenic mechanism for AT/RT is still under investigation. There is not a lot of data available on therapeutic and prognostic implications of r22 in AT/RT and PMDS. Herein, we present the first case of a child with constitutional r22, PMDS and AT/RT of the brain, who is a long term survivor and is been treated with growth hormone. We also describe an unexpected adverse reaction to midazolam.

scholarly journals A Rare Case of Undifferentiated Carcinoma of the Colon with Rhabdoid Features: A Case Report and Review of the Literature

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
E. Moussaly ◽  
J. P. Atallah
Keyword(s):  
Case Report ◽  
Surgical Resection ◽  
Rare Case ◽  
Undifferentiated Carcinoma ◽  
Rhabdoid Tumor ◽  
Review Of The Literature ◽  
Carcinoma Of The Colon ◽  
Multiple Organs ◽  
Rhabdoid Tumors ◽  
Rhabdoid Features

Malignant rhabdoid tumors were originally described in children. Subsequently, the same histological pattern was described in adults. Malignant rhabdoid tumors are aggressive neoplasms that have been reported in multiple organs. To our best knowledge, only 16 previous cases of rhabdoid tumor in the colon have been described in the literature. We present the case of an 87-year-old lady who was diagnosed with a rhabdoid tumor of the colon that relapsed rapidly after surgical resection. The literature concerning this unusual neoplasm was subsequently reviewed with comparison of all known cases in the literature.

scholarly journals MON-262 A Case of the Suprasellar Atypical Teratoid Rhabdoid Tumor (ATRT) Presenting in an Adult Treated with Intrathecal Chemotherapy

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Omar Oraibi ◽  
Christine Mau ◽  
Lekhaj Daggubati ◽  
Yahya Khormi ◽  
Andrea Manni ◽  
...  
Keyword(s):  
Internal Control ◽  
Intrathecal Chemotherapy ◽  
Rhabdoid Tumor ◽  
Biological Behavior ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
First Case ◽  
Initial Surgery ◽  
Atypical Teratoid ◽  
Atypical Teratoid Rhabdoid Tumors ◽  
Rhabdoid Tumors

Abstract Background: Atypical teratoid rhabdoid tumors (ATRTs) are highly malignant tumors that usually present as a posterior fossa mass in children less than 3 years old. Only 38 cases have been reported in adults. They are also typically located in the supratentorial region. In none of the reported cases of suprasellar ATRT in the adult, intrathecal chemotherapy (via ommaya) has been used. Clinical case: A 70-year-old woman presented with a severe headache and magnetic resonance imaging (MRI) revealed a suprasellar mass measuring 2.9 x 2.1 x 3.0 cm. Shortly after her presentation, she developed an acute 3rd nerve palsy, and repeat MRI found dramatic interval growth. A transsphenoidal approach for biopsy/resection was attempted, but the lesion was not accessible via this corridor. She then underwent a right frontotemporal craniotomy and subsequently developed panhypopituitarism, including diabetes insipidus. Pathology revealed poorly differentiated malignant cells. Immunohistochemistry was positive for synaptophysin, Epithelial Membrane Antigen (EMA), Tumor protein p53, and negative for integrase interactor 1 (INI-1 antibody) with loss of expression in tumor nuclei with positive internal control in endothelial cells. These findings confirmed the diagnosis of ATRT. The Ki-67 index was 60% consistent with a highly proliferative tumor. One month later, she developed acute mental status change. Repeat computed tomography, and MRI showed recurrence of the tumor at the same location with new leptomeningeal enhancement involving the left facial nerve. Multimodal treatment was instituted, consisting of intraventricular/intrathecal chemotherapy with etoposide and topotecan plus fractionated external beam cranial irradiation (30 Gy in 10 fractions). She continued to deteriorate, and following consultation with her family, she was transferred to hospice care and died six months following her initial surgery. Conclusion: This is the first case of adult suprasellar ATRT that has been treated with intrathecal chemotherapy. There is no consensus on the best combination of chemotherapy, and often the St. Jude’s protocol used in the treatment of pediatric ATRT is used. In line with the biological behavior reported for this tumor in children and adults in different locations, the tumor was very aggressive, resulting in the patient’s death only after 6 months from the diagnosis despite aggressive surgical and medical treatment. Reference: 1. Athale, U. H., J. Duckworth, I. Odame, and R. Barr. 2009. Childhood atypical teratoid rhabdoid tumor of the central nervous system: a meta-analysis of observational studies. J. Pediatr. Hematol. Oncol. 31:651-663. 2. Shonka N, Armstrong T (2011) Atypical teratoid/rhabdoid tumors in adults: A case report and treatment-focused review. J Clin Med Res 3: 85-92.

Epithelioid Sarcoma Arising in a Long-Term Survivor of an Atypical Teratoid/Rhabdoid Tumor in a Patient With Rhabdoid Tumor Predisposition Syndrome

2021 ◽  
pp. 109352662098649
Author(s):  
Tiffany G Baker ◽  
Michael J Lyons ◽  
Lee Leddy ◽  
David M Parham ◽  
Cynthia T Welsh
Keyword(s):  
Epithelioid Sarcoma ◽  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Diagnostic Challenge ◽  
Patient Demographics ◽  
Immunohistochemical Markers ◽  
Genetic Aberration ◽  
Atypical Teratoid ◽  
Rhabdoid Tumors

Rhabdoid tumor predisposition syndrome (RTPS) is defined as the presence of a SMARCB1 or SMARCA4 genetic aberration in a patient with malignant rhabdoid tumor. Patients with RTPS are more likely to present with synchronous or metachronous rhabdoid tumors. Based on the current state of rhabdoid tumor taxonomy, these diagnoses are based largely on patient demographics, anatomic location of disease, and immunohistochemistry, despite their nearly identical histologic and immunohistochemical profiles. Thus, the true distinction between such tumors remains a diagnostic challenge. Central nervous system atypical teratoid/rhabdoid tumor (AT/RT) is a rare, aggressive, primarily pediatric malignancy with variable histologic features and a well documented association with loss of SMARCB1 expression. Epithelioid sarcoma (ES) is a rare soft tissue tumor arising in patients of all ages and characteristically staining for both mesenchymal and epithelial immunohistochemical markers while usually demonstrating loss of SMARCB1 expression. To our knowledge we herein present the first documented case of a patient with RTPS who presented with metachronous AT/RT and ES.

scholarly journals Primitive neuroectodermal tumor of the esophagus with metastasis in the pineal gland

2019 ◽  
Vol 07 (09) ◽  
pp. E1163-E1165
Author(s):  
Leonardo Blas Jhon ◽  
Paloma Sánchez-Fayos ◽  
Maria Jesus Martín Relloso ◽  
Daniel Calero Barón ◽  
Juan Carlos Porres Cubero
Keyword(s):  
Case Report ◽  
Pineal Gland ◽  
Disease Progression ◽  
Rare Case ◽  
Primitive Neuroectodermal Tumor ◽  
Malignant Neoplasms ◽  
Primitive Neuroectodermal Tumors ◽  
First Case ◽  
Neuroectodermal Tumors ◽  
Chemotherapeutic Treatment

AbstractPrimitive neuroectodermal tumors (PNET) are very rare tumors that belong to a family of malignant neoplasms of tiny round cells which are derived from the neural crest. This report discusses a rare case of an adult woman with esophageal PNET, confirmed by immunohistochemistry, that presented with metastasis to the pineal gland. To our knowledge, this is the first case report of a PNET with these features. Despite surgery and chemotherapeutic treatment, our case has shown disease progression.

The Saga of Rhabdoid Cells and Rhabdoid Tumors

1991 ◽  
Vol 15 (6) ◽  
pp. iii-v ◽  
Author(s):  
Manuel Sobrinho-Simöes
Keyword(s):  
Rhabdoid Cells ◽  
Rhabdoid Tumors

Malignant Rhabdoid Tumor of the Kidney in an Adult: A Case Report and Review of the Literature

2003 ◽  
Vol 127 (9) ◽  
pp. e371-e373 ◽  
Author(s):  
Hong Qi Peng ◽  
Albert E. Stanek ◽  
Saul Teichberg ◽  
Barry Shepard ◽  
Ellen Kahn
Keyword(s):  
Case Report ◽  
Aggressive Behavior ◽  
Poor Prognosis ◽  
Renal Tumor ◽  
Adult Population ◽  
Rhabdoid Tumor ◽  
Malignant Rhabdoid Tumor ◽  
Review Of The Literature ◽  
Electron Microscopic ◽  
Rhabdoid Tumors

Abstract 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.

scholarly journals ATRT-21. RHABDOID PREDISPOSITION SYNDROME: REPORT OF MOLECULAR PROFILES AND TREATMENT APPROACH IN THREE CHILDREN WITH SYNCHRONOUS ATYPICAL TERATOID/RHABDOID TUMOR AND MALIGNANT RHABDOID TUMOR

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii280-iii280
Author(s):  
Margaret Shatara ◽  
Ajay Gupta ◽  
Mohamed H Abu Arja ◽  
Suzanne E Conley ◽  
Priyal Patel ◽  
...  
Keyword(s):  
Molecular Profiling ◽  
Rhabdoid Tumor ◽  
The Other ◽  
Hematopoietic Progenitor Cell ◽  
Induction Phase ◽  
Malignant Rhabdoid Tumor ◽  
Atypical Teratoid Rhabdoid Tumor ◽  
Consolidation Phase ◽  
Atypical Teratoid ◽  
Rhabdoid Tumors

Abstract BACKGROUND Rhabdoid predisposition syndrome is characterized by germline alterations in SMARCB1 or SMARCA4, leading to synchronous or metachronous central nervous system (CNS) and extra-CNS rhabdoid tumors. Rare survivors have been reported to date. METHODS We describe the molecular profiling and treatment regimen of three patients with synchronous atypical teratoid/rhabdoid tumor (ATRT) and malignant rhabdoid tumor of the kidney (MRT-K). All patients underwent radical nephrectomy of the kidney, and gross total resection of the primary CNS tumor was achieved for two patients. An intensive chemotherapy regimen was administered; an induction phase based on the modified Third Intergroup Rhabdomyosarcoma Study (IRS-III) for ATRT followed by a consolidation phase with three cycles of high-dose chemotherapy and autologous hematopoietic progenitor cell rescue, without irradiation. All three patients were enrolled on an institutional comprehensive genomic profiling protocol. RESULTS A germline focal 22q deletion, including SMARCB1, was detected in two patients, while the third patient had a maternally-inherited heterozygous frameshift variant in SMARCB1. Somatic loss of heterozygosity of 22q was identified in all patients, resulting in biallelic inactivation of SMARCB1. Divergent tumor subgroups were described using DNA methylation. The three MRT-K samples were classified as MYC subtype. One ATRT was classified as SHH while the other as TYR. One patient is currently three years off-therapy without evidence of disease, while the other two patients have completed the consolidation phase without recurrent disease. CONCLUSION Molecular profiling of CNS and extra-CNS rhabdoid tumors revealed different epigenetic subgroups. An intensive multimodal therapeutic approach without irradiation may achieve prolonged survival.

scholarly journals SMARCB1/INI1-deficient tumors of adulthood

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 662
Author(s):  
Nathaniel A. Parker ◽  
Ammar Al-Obaidi ◽  
Jeremy M. Deutsch
Keyword(s):  
Progressive Disease ◽  
Therapeutic Strategies ◽  
Complete Loss ◽  
Rhabdoid Tumor ◽  
Diverse Group ◽  
Loss Of Function ◽  
Genetic Aberrations ◽  
Mosaic Expression ◽  
Aggressive Tumors ◽  
Rhabdoid Tumors

The SMARCB1/INI1 gene was first discovered in the mid-1990s, and since then it has been revealed that loss of function mutations in this gene result in aggressive rhabdoid tumors. Recently, the term “rhabdoid tumor” has become synonymous with decreased SMARCB1/INI1 expression. When genetic aberrations in the SMARCB1/INI1 gene occur, the result can cause complete loss of expression, decreased expression, and mosaic expression. Although SMARCB1/INI1-deficient tumors are predominantly sarcomas, this is a diverse group of tumors with mixed phenotypes, which can often make the diagnosis challenging. Prognosis for these aggressive tumors is often poor. Moreover, refractory and relapsing progressive disease is common. As a result, accurate and timely diagnosis is imperative. Despite the SMARCB1/INI1 gene itself and its implications in tumorigenesis being discovered over two decades ago, there is a paucity of rhabdoid tumor cases reported in the literature that detail SMARCB1/INI1 expression. Much work remains if we hope to provide additional therapeutic strategies for patients with aggressive SMARCB1/INI1-deficient tumors.

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