Alpha-Fetoprotein-Producing Esophageal Adenocarcinoma With Enteroblastic, Yolk Sac Tumor-Like, and Hepatoid Carcinoma Differentiation: A Rare Case and Literature Review

Shore, Karen T.; Phelps, Kara Chan; Balani, Jyoti; Mitchell, James

doi:10.1177/10668969221142041

Cited by 3 publications

(2 citation statements)

References 27 publications

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“…These patients exhibit not only immunohistochemical peculiarities but also morphological characteristics like a strikingly clear cytoplasm and loss or marked reduced CK7 expression. So far, there have only been case reports for this phenotype in EAC, making us the rst to demonstrate these morphological and immunohistochemical characteristics in a group of patients within a large and representative patient cohort [7][8][9] With a frequency of 0.7%, we nd the above-described characteristics only in a small portion of patients.…”

Section: Discussionmentioning

confidence: 84%

Fetal gut cell-like differentiation in esophageal adenocarcinoma - rare tumor subtype with therapeutically relevant claudin-6 positivity and SWI/SNF gene alteration

Kraemer,

Zander,

Alakus

et al. 2023

Preprint

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Esophageal adenocarcinoma (EAC) is one of the deadliest tumor entities worldwide, with a 5-year survival rate of less than 25%. Unlike other tumor entities, personalized therapy options are rare, partly due to the lack of knowledge about specific subgroups. In this publication, we demonstrate a subgroup of patients with EAC in a large screening cohort of 826 patients, characterized by specific morphological and immunohistochemical features. This subgroup represents approximately 0.7% (6/826) of the total cohort. Morphological features of this subgroup show a striking clear cytoplasm of the tumour cells and the parallel existence of rare growth patterns like yolk sac-like differentiation and enteroblastic differentiation. Immunohistochemistry reveals expression of the fetal gut cell-like proteins Sal-like protein 4 (SALL4), claudin-6, and glypican 3. Interestingly, we find a correlation with alterations of SWI/SNF-complex associated genes, which are supposed to serve as tumor suppressor genes in various tumour entities. Our results suggest a possible implication of rare tumour subtypes in the WHO classification for EACs according to the classification for gastric cancer. Furthermore, claudin-6 positive tumors show promising efficacy of CAR T cell therapies in clinical studies. This represents a personalized therapeutic option for this tumor subtype.

show abstract

Section: Discussionmentioning

confidence: 84%

Fetal gut cell-like differentiation in esophageal adenocarcinoma - rare tumor subtype with therapeutically relevant claudin-6 positivity and SWI/SNF gene alteration

Kraemer,

Zander,

Alakus

et al. 2023

Preprint

View full text Add to dashboard Cite

show abstract

“…These patients exhibit not only immunohistochemical peculiarities but also morphological characteristics like a strikingly clear cytoplasm and loss or marked reduced CK7 expression. So far, there have only been case reports for this phenotype in EAC, making us the first to demonstrate these morphological and immunohistochemical characteristics in a group of patients within a large and representative patient cohort 9 – 11 .…”

Section: Discussionmentioning

confidence: 92%

Fetal gut cell-like differentiation in esophageal adenocarcinoma defines a rare tumor subtype with therapeutically relevant claudin-6 positivity and SWI/SNF gene alteration

Kraemer,

Zander,

Alakus

et al. 2024

Sci Rep

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Esophageal adenocarcinoma (EAC) is one of the deadliest tumor entities worldwide, with a 5-year survival rate of less than 25%. Unlike other tumor entities, personalized therapy options are rare, partly due to the lack of knowledge about specific subgroups. In this publication, we demonstrate a subgroup of patients with EAC in a large screening cohort of 826 patients, characterized by specific morphological and immunohistochemical features. This subgroup represents approximately 0.7% (6/826) of the total cohort. Morphological features of this subgroup show a striking clear cytoplasm of the tumour cells and the parallel existence of rare growth patterns like yolk sac-like differentiation and enteroblastic differentiation. Immunohistochemistry reveals expression of the fetal gut cell-like proteins Sal-like protein 4 (SALL4), claudin-6, and glypican 3. Interestingly, we find a correlation with alterations of SWI/SNF-complex associated genes, which are supposed to serve as tumor suppressor genes in various tumour entities. Our results suggest a possible implication of rare tumour subtypes in the WHO classification for EACs according to the classification for gastric cancer. Furthermore, claudin-6 positive tumors have shown promising efficacy of CAR T cell therapy in the recently published BNT-211-01 trial (NCT04503278). This represents a personalized therapeutic option for this tumor subtype.

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Beyond the WHO 2020 Classification of Female Genital Tumors: Types of Endometrial Cancer: A Pathological and Molecular Focus on Challenging Rare Variants

Santoro,

Angelico,

Travaglino

et al. 2024

IJMS

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Endometrial carcinoma is a heterogeneous group of malignancies characterized by distinct histopathological features and genetic underpinnings. The 2020 WHO classification has provided a comprehensive framework for the categorization of endometrial carcinoma. However, it has not fully addressed the spectrum of uncommon entities that are currently not recognized by the 2020 WHO and have only been described in the form of small case series and case reports. These neoplasms represent a real diagnostic challenge for pathologists; furthermore, their therapeutic management still remains controversial and information regarding tumor prognosis is very limited. This review aims to elucidate these lesser-known variants of endometrial carcinoma. We discuss the challenges of identifying these rare subtypes and the molecular alterations associated with them. Furthermore, we propose the need for expanded classification systems that include these variants to enhance clinical outcomes and research efforts. We believe that a better histological typing characterization of these entities may lead to more reproducible and accurate diagnoses and more personalized treatments. By raising awareness of these rare entities, we also hope to encourage further investigation and integration into clinical practice to improve patient care in endometrial carcinoma.

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Alpha-Fetoprotein-Producing Esophageal Adenocarcinoma With Enteroblastic, Yolk Sac Tumor-Like, and Hepatoid Carcinoma Differentiation: A Rare Case and Literature Review

Cited by 3 publications

References 27 publications

Fetal gut cell-like differentiation in esophageal adenocarcinoma - rare tumor subtype with therapeutically relevant claudin-6 positivity and SWI/SNF gene alteration

Fetal gut cell-like differentiation in esophageal adenocarcinoma - rare tumor subtype with therapeutically relevant claudin-6 positivity and SWI/SNF gene alteration

Fetal gut cell-like differentiation in esophageal adenocarcinoma defines a rare tumor subtype with therapeutically relevant claudin-6 positivity and SWI/SNF gene alteration

Beyond the WHO 2020 Classification of Female Genital Tumors: Types of Endometrial Cancer: A Pathological and Molecular Focus on Challenging Rare Variants

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