Extraordinary disease-free survival in a rare malignant extrarenal rhabdoid tumor: a case report and review of the literature

D’Amico, F.; Bertacco, Alessandra; Cesari, Maurizio; Mescoli, Claudia; Caturegli, Giorgio; Gondolesi, Gabriel; Cillo, Umberto

doi:10.1186/s13256-017-1554-2

Cited by 14 publications

(12 citation statements)

References 25 publications

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“…A careful review of the MEDLINE literature revealed 39 cases of CRbCs that should be added to our seven cases for a total of 46 cases [1,2,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26] (Table S3). The patients were 22 males and 24 females aged 23–87 years (mean age: 64 years; median 69 years).…”

Section: Resultsmentioning

confidence: 99%

BRAF Mutation in Colorectal Rhabdoid and Poorly Differentiated Medullary Carcinomas

Bolzacchini

Digiacomo

Marrazzo³

et al. 2019

Cancers

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Colorectal rhabdoid carcinomas (CRbCs) are very rare and aggressive cancers. The BRAF mutation and CpG island methylator phenotype have been reported to be common features of CRbCs. This study reviews the literature about CRbCs and analyzes the clinicopathological and molecular profiles of seven CRbCs characterized by large discohesive cells with abundant eosinophilic cytoplasm, showing hyaline inclusions and large rounded to bean-shaped nuclei. For comparison, we included four poorly differentiated medullary carcinomas (PDMCs) with focal aspects mimicking rhabdoid features. Overall survival was poor in both subsets, with 78% of patients dying of disease within 2–11 months. The main features of CRbCs were: Loss of/reduced SMARCB1/INI expression, intense vimentin immunostaining, and dense neutrophilic infiltration. The PDMCs were positive for pancytokeratin but negative for vimentin and showed moderate peritumoral/intratumoral CD8+ lymphocytes. All PDMCs showed SMARCB1(INI-1) expression. The coexistence of BRAF and TP53 mutations was observed in 80% of CRbCs and PDMCs. PDMCs always showed microsatellite instability and CpG island methylator phenotype (CIMP), while CRbCs were CIMP negative and exhibited microsatellite instability (MSI) in two out of seven cases. CRbCs are characterized by BRAF and TP53 mutations. Loss/reduced expression of nuclear SMARCB1/INI, intense vimentin immunostaining, dense neutrophilic infiltration, and low frequency of CIMP are useful markers to recognize these rare aggressive tumors.

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Section: Resultsmentioning

confidence: 99%

BRAF Mutation in Colorectal Rhabdoid and Poorly Differentiated Medullary Carcinomas

Bolzacchini

Digiacomo

Marrazzo³

et al. 2019

Cancers

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“…13 Adult cases are even more uncommon. 14 Accompanying such sparse incidence comes a dismal prognosis, with a majority of patients expiring within 6–8 months of diagnosis despite aggressive therapy and regardless of age. 2,11 These data are difficult to interpret, however, due to the paucity of documented adult cases and poor prognosis.…”

Section: Discussionmentioning

confidence: 99%

Extrarenal malignant rhabdoid tumor infiltrating the brachial plexus and spinal canal

Sant

2022

Neuroradiol J

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Extrarenal malignant rhabdoid tumors are rare, aggressive lesions that primarily affect infants and children with characteristic SMARCB1/INI1 mutations. While rhabdoid tumors are most commonly found in the kidneys and central nervous system, they have been reported in virtually every soft tissue in the body. A 20-year-old previously healthy male presented with a 4-month history of left upper extremity weakness and pain and a 1-week history of lower extremity weakness. MRI showed a combined intradural and extradural mass arising from the C8 root and involving the lower trunk of the brachial plexus. CT guided biopsy followed with onsite cytologic analysis initially concerning for plasma cell etiology. Full body PET/CT showed no evidence of metastases. The tumor was surgically resected and debulked. Extensive immunohistochemical testing on the resected specimen revealed a diagnosis of extrarenal malignant rhabdoid tumor. Recurrence invading paraspinous muscles, left lateral paravertebral space, left apical lung, and brachial plexus was noted within 2 months. Radiation and chemotherapy were initiated. Here we present imaging findings, image-guided biopsy, surgical management, and pathologic diagnosis of a rare case of extrarenal, extracranial malignant rhabdoid tumor of the brachial plexus and surrounding paraspinous muscles in a young adult male.

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“…Large intestine-derived malignant tumors with rhabdoid features are rare [ 12 ], and to date, only 28 cases (including the current case) of colorectal undifferentiated carcinoma with rhabdoid features have been reported (Table 1 ) [ 1 , 5 , 12 – 36 ]. These cases have been reported in 17 men and 11 women.…”

Section: Discussionmentioning

confidence: 99%

INI1-negative colorectal undifferentiated carcinoma with rhabdoid features and postoperative rapidly growing liver metastases: a case report and review of the literature

et al. 2021

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Background Malignant tumors with rhabdoid features are extremely rare. They can occur in various organs, including the gastrointestinal tract, with common clinical features of high malignancy and poor prognosis. Case presentation A 41-year-old man visited our hospital complaining of lower abdominal pain and fever. Computed tomography (CT) revealed two wall-thickening lesions in the rectum and sigmoid colon, with the latter invading the small intestine and abdominal wall. Lymph nodes were swollen in the sigmoid mesocolon and at the roots of the inferior mesenteric artery. Colonoscopy revealed a circular type 3 lesion in the sigmoid colon and a semicircular type 2 lesion in the rectum. Biopsies of the sigmoid colon and rectum lesions revealed poorly and moderately differentiated adenocarcinoma cells, respectively. The sigmoid colon, rectum, invaded small intestine, and abdominal wall were resected; lymph node dissection was also performed. Histopathological finding of the sigmoid colon lesion revealed that the tumor cells had poor connectivity with each other, and each cell had eosinophilic cytoplasm and a polymorphic nucleus. These characteristics are termed rhabdoid features, because the morphology of these cells is similar to that of rhabdomyosarcoma tumor cells. Immunohistochemical examination showed that the tumor cells were positive for both epithelial (cytokeratin AE1/AE3) and mesenchymal cell markers (vimentin); however, they were negative for integrase interactor 1 (INI1). Therefore, the sigmoid colorectal cancer was diagnosed as an INI1-negative undifferentiated carcinoma with rhabdoid features. The patient continued to experience high fever after surgery; thus, we performed an abdominal CT scan that revealed cystic lesions in the liver 4 days after surgery. These were absent in the positron emission tomography (PET)-CT scan performed 14 days before surgery. These tumors grew rapidly, and fine needle aspiration cytology revealed that they were undifferentiated carcinomas compatible with metastatic lesions from the undifferentiated carcinoma with rhabdoid features from the sigmoid colon. Chemotherapy was administered but was not effective. The patient died 60 days after surgery. Conclusions INI1-negative colorectal undifferentiated carcinomas with rhabdoid features are extremely rare, have high histological malignancy, and a poor prognosis. Chemotherapy is not effective. Effective systemic therapy is desired.

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Extraordinary disease-free survival in a rare malignant extrarenal rhabdoid tumor: a case report and review of the literature

Cited by 14 publications

References 25 publications

BRAF Mutation in Colorectal Rhabdoid and Poorly Differentiated Medullary Carcinomas

BRAF Mutation in Colorectal Rhabdoid and Poorly Differentiated Medullary Carcinomas

Extrarenal malignant rhabdoid tumor infiltrating the brachial plexus and spinal canal

INI1-negative colorectal undifferentiated carcinoma with rhabdoid features and postoperative rapidly growing liver metastases: a case report and review of the literature

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