Malignant undifferentiated and rhabdoid tumors of the gastroesophageal junction and esophagus with SMARCA4 loss: a case series

Gupta, Srishti; Noona, Sean W; Pambuccian, Stefan E.; Robinson, Brian H.; Martin, Linda W.; Williams, Eli S.; Stelow, Edward B.; Raghavan, Shyam S

doi:10.1016/j.humpath.2022.12.008

Cited by 6 publications

(42 citation statements)

References 24 publications

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“…SMARCA4-deficient tumours with undifferentiated/ poorly differentiated histology have been recognised in a number of other anatomical sites, including the ovary, uterus, oesophagus, stomach, intestine, pancreas, urinary tract, kidney, head/neck and skin. 73,[76][77][78][79][80][81][82][83][84][85][86][87] Some of these tumours show expression of claudin-4 and keratin and/or combined histology with conventional carcinoma, 78,88 thereby matching the phenotypes of poorly differentiated or dedifferentiated carcinoma. However, a fraction demonstrates totally undifferentiated/rhabdoid growth with claudin-4 negativity and SMARCA4/SMARCA2 coloss, which is histologically indistinguishable from thoracic SMARCA4-UT.…”

Section: P a R A L L E L S I N O T H E R A N A T O M I C A L S I T E Smentioning

confidence: 99%

“…However, a fraction demonstrates totally undifferentiated/rhabdoid growth with claudin-4 negativity and SMARCA4/SMARCA2 coloss, which is histologically indistinguishable from thoracic SMARCA4-UT. [85][86][87]89 carcinomas of respective organs (e.g. microsatellite instability for the endometrium).…”

Section: P a R A L L E L S I N O T H E R A N A T O M I C A L S I T E Smentioning

confidence: 99%

“…SMARCA4deficient undifferentiated oesophageal tumours may be indistinguishable from thoracic SMARCA4-UT involving the posterior mediastinum. 85,87 Mismatch repair protein deficiency is not a known feature of thoracic SMARCA4-UT and probably suggests metastasis. STK11 or KEAP1 mutations and smoking-related mutation signature might support a thoracic primary, although little is known about their specificity relative to SMARCA4-UTs in other anatomical sites.…”

Section: P a R A L L E L S I N O T H E R A N A T O M I C A L S I T E Smentioning

confidence: 99%

“…SMARCA4‐deficient tumours with undifferentiated/poorly differentiated histology have been recognised in a number of other anatomical sites, including the ovary, uterus, oesophagus, stomach, intestine, pancreas, urinary tract, kidney, head/neck and skin 73,76–87 . Some of these tumours show expression of claudin‐4 and keratin and/or combined histology with conventional carcinoma, 78,88 thereby matching the phenotypes of poorly differentiated or de‐differentiated carcinoma.…”

Section: Thoracic Smarca4‐deficient Undifferentiated Tumourmentioning

confidence: 99%

“…Some of these tumours show expression of claudin‐4 and keratin and/or combined histology with conventional carcinoma, 78,88 thereby matching the phenotypes of poorly differentiated or de‐differentiated carcinoma. However, a fraction demonstrates totally undifferentiated/rhabdoid growth with claudin‐4 negativity and SMARCA4/SMARCA2 co‐loss, which is histologically indistinguishable from thoracic SMARCA4‐UT 85–87,89 . Such tumours often remain considered undifferentiated carcinoma, particularly when they share genetics with ordinary carcinomas of respective organs (e.g.…”

Section: Thoracic Smarca4‐deficient Undifferentiated Tumourmentioning

confidence: 99%

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NUT carcinoma and thoracic SMARCA4‐deficient undifferentiated tumour: facts and controversies

Yoshida

2023

Histopathology

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NUT carcinoma and thoracic SMARCA4‐deficient undifferentiated tumour are unique entities in the 5th edition of the World Health Organisation (WHO) Classification of Thoracic Tumours, whose definitions include molecular genetic abnormalities. These aggressive tumours require rapid work‐ups on biopsies, but a broad list of differential diagnoses poses challenges for practising pathologists. This review provides an update on their key clinicopathological and molecular characteristics, as well as controversies regarding tumour classification and diagnostic strategy. Phenotypical assessment plays a substantial role in diagnosis because recurrent and predictable clinicopathological findings exist, including robust immunohistochemical phenotypes. Accurate diagnosis is crucial for appropriate management and a clearer understanding of the disease.

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Section: P a R A L L E L S I N O T H E R A N A T O M I C A L S I T E Smentioning

confidence: 99%

Section: P a R A L L E L S I N O T H E R A N A T O M I C A L S I T E Smentioning

confidence: 99%

Section: P a R A L L E L S I N O T H E R A N A T O M I C A L S I T E Smentioning

confidence: 99%

Section: Thoracic Smarca4‐deficient Undifferentiated Tumourmentioning

confidence: 99%

Section: Thoracic Smarca4‐deficient Undifferentiated Tumourmentioning

confidence: 99%

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NUT carcinoma and thoracic SMARCA4‐deficient undifferentiated tumour: facts and controversies

Yoshida

2023

Histopathology

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Coinactivation of the Switch/Sucrose Nonfermenting Complex SMARCA4/BRG1 and SMARCB1/INI1 in a Cervical Mixed Carcinoma: A Case Report

Qi,

Yao

et al. 2024

International Journal of Gynecological Pathology

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SMARCB1/SMARCA4-deficient malignancies of the female genital tract are rare entities, characterized by similar histologic features, such as sheet-like growth patterns and rhabdoid cells. Previous studies have shown mutually exclusive loss of SMARCA4/BRG1 and SMARCB1/INI1. Herein, we describe a unique cervical mixed carcinoma in a 77-year-old patient. The tumor consisted of 3 components, gastric-type adenocarcinoma, squamous carcinoma, and undifferentiated carcinoma. While the undifferentiated carcinoma was negtive for CK7, CK5/6 and p63, it was positive for pan-CK. DNA-based next-generation sequencing revealed a nonsense mutation in SMARCA4, copy number loss in SMARCB1, and a nonsense mutation in ARID1A. Different molecular alterations of the switch/sucrose nonfermenting complex subunits in the present case may provide further insights into the functions of the switch/sucrose nonfermenting complex in the progression of tumors.

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Undifferentiated Carcinoma of Esophagus with SMARCA4 Deletion Expressing Synaptophysin: A Potential Diagnostic Pitfall

Cui

Uboha

2023

Int J Surg Pathol

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Undifferentiated carcinoma of the esophagus is an entity that is included in WHO classification of digestive systems fifth edition (2018). The definition of this entity is a malignant esophageal epithelial tumor that lacks definite microscopic features of squamous, glandular, or neuroendocrine differentiation. It is a challenging diagnosis to make due to lack of diagnostic criteria. We report a case from a 45 years old man with a mass in the lower third of esophagus. Biopsy showed an epitheloid neoplasm with sheet like growth pattern and no glandular formation. The tumor cells had prominent nucleoli and indistinct cell borders. There were occasional rhabdoid cells. By immunostains, tumor cells were focally positive for pankeratin, keratin 7, synaptophysin, negative for CDX2 and p40, INSM1, chromogranin, and CD56. Background intestinal metaplasia (Barrett esophagus) was present. Next generation sequencing of the tumor revealed SMARCA4 deep deletion. The tumor showed loss of SMARCA4 by immunostain. This case demonstrates that undifferentiated carcinoma of the esophagus with SMARCA4 deletion can express synaptophysin. Awareness of this entity is important for the correct classification of this tumor.

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Malignant undifferentiated and rhabdoid tumors of the gastroesophageal junction and esophagus with SMARCA4 loss: a case series

Cited by 6 publications

References 24 publications

NUT carcinoma and thoracic SMARCA4‐deficient undifferentiated tumour: facts and controversies

NUT carcinoma and thoracic SMARCA4‐deficient undifferentiated tumour: facts and controversies

Coinactivation of the Switch/Sucrose Nonfermenting Complex SMARCA4/BRG1 and SMARCB1/INI1 in a Cervical Mixed Carcinoma: A Case Report

Undifferentiated Carcinoma of Esophagus with SMARCA4 Deletion Expressing Synaptophysin: A Potential Diagnostic Pitfall

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