Tall cell carcinoma with reverse polarity of breast: report of a case with unique morphologic and molecular features

Jassim, Mohamed; Premalata, C S; Okaly, Geeta V Patil; Chunduri, Srinivas

doi:10.5146/tjpath.2020.01511

Cited by 8 publications

(9 citation statements)

References 18 publications

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“…7,17 The distribution of IDH2 mutation types in a total of 60 TCCRP cases with sequencing analyses for the IDH2 gene reported thus far are summarized in Table 3. 4,[17][18][19][20][21][22][23][24][25][26] IDH2 mutation was detected in 90% of the cases (54/60), and the mutational regions were limited to codon 172. Five subtypes of IDH2 R172 mutation [R172S, R172T, R172G, R172W, and R172I (in descending order)] have been reported.…”

Section: Discussionmentioning

confidence: 99%

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The Diagnostic Utility of IDH2 R172 Immunohistochemistry in Tall Cell Carcinoma With Reversed Polarity of the Breast

Sasaki

Iwakoshi

Satake

et al. 2022

Applied Immunohistochemistry &Amp; Molecular Morphology

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Tall cell carcinoma with reversed polarity (TCCRP) is a rare histologic type of low-grade breast cancer, consisting of tall columnar cells with reversed nuclear polarity and characterized by frequent IDH2 mutations. We herein report 3 cases of TCCRP with sequencing analyses of the IDH2 gene and immunohistochemical examination using monoclonal antibodies (11C8B1) against IDH2 R172. IDH2 R172 mutations were detected in all 3 resected tumors (R172S in 2 tumors and R172T in 1 tumor), and the presence of these mutations was confirmed by IDH2 R172 immunohistochemistry. Tumor cells of TCCRP showed strong and diffuse staining for the antibody against IDH2 R172. In 1 case, tumor tissue from 2 core needle biopsy samples collected on different days were also immunohistochemically positive for IDH2 R172. These results indicate that IDH2 R172 immunohistochemistry is suitable for the detection of TCCRP in both resection and biopsy samples. In addition, a literature review revealed that R172S and R172T account for 76% of IDH2 mutations in TCCRP, suggesting that 11C8B1, which reacts with R172S and R172T, was likely most sensitive for IDH2-mutated TCCRP among many available antibodies for IDH2 R172. Furthermore, the combination of 2 or more antibodies against IDH2 R172 could be more effective for detecting TCCRP mutation. However, it is important to note that IDH2 R172 immunohistochemistry is not absolute, because IDH2 wild type is found in a small proportion (10%) of cases, and a few cases of IDH2-mutated TCCRP may harbor rare subtypes of R172 that are not covered by available antibodies.

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Section: Discussionmentioning

confidence: 99%

“…The distribution of IDH2 mutation types in a total of 60 TCCRP cases with sequencing analyses for the IDH2 gene reported thus far are summarized in Table 3 4,17–26 . IDH2 mutation was detected in 90% of the cases (54/60), and the mutational regions were limited to codon 172.…”

Section: Discussionmentioning

confidence: 99%

The Diagnostic Utility of IDH2 R172 Immunohistochemistry in Tall Cell Carcinoma With Reversed Polarity of the Breast

Sasaki

Iwakoshi

Satake

et al. 2022

Applied Immunohistochemistry &Amp; Molecular Morphology

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“…TCCRP is an uncommon entity, first reported in 2003 by Eusebi et al [1]. Cases only occur in women ages 39-89 with a mean of 64 years at the time of diagnosis [5,6], usually found by palpation or by screening mammography. Size ranges from 6 to 42 mm [1,[7][8][9] -this characteristic agrees with our case.…”

Section: Discussionmentioning

confidence: 99%

Tall Cell Carcinoma With Reversed Polarity of the Breast

Matute¹,

Barcenas²,

Bautista³

et al. 2021

Cureus

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Tall cell carcinoma with reversed polarity (TCCRP) of the breast is a rare entity with low potential for malignancy that exhibits some morphological similarities to the tall cell variant of papillary thyroid carcinoma. Immunohistochemical and molecular studies help establish the mammary origin of this neoplasm. Here, we describe the case of a 63-year-old woman with a finding of a nodular lesion during a screening mammogram, whose morphological findings and immunohistochemical studies confirmed the diagnosis of papillary high cell carcinoma with the reverse polarity of the mammary gland.

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“…Metaplastic carcinomas of the breast have undergone relevant biological differentiation and new categorization in the last decades. Low- and high-grade morphological variants with specific histological definitions and underlying molecular changes have been defined and recommendations for the use of systemic therapies have been also addressed based on the morphological pattern and differentiation grade [ 19 , 29 – 31 ]. By definition, for the diagnosis, an invasive carcinoma with atypical squamous, spindle cell, and/or mesenchymal/matrix-producing differentiation is required.…”

Section: Molecular Testing In Metaplastic Carcinomasmentioning

confidence: 99%

Molecular pathology in breast disease: diagnostic, prognostic, and therapeutic tools

Varga,

Maccio

2023

Virchows Arch

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Molecular testing in breast cancer gained increasing attention and importance as specific molecular results can tailor not only oncological decisions on systemic adjuvant or neoadjuvant or in metastatic setting, but increasingly serve in diagnostic routine histopathological services to differentiate between morphologically overlapping or ambiguous histological pictures. Diagnostic tools involve in most cases a broad spectrum of immunohistochemical panels, followed by entity-specific in situ hybridization probes and in given cases NGS-based sequencing. Workflow of which methodology is applied and in which order depends on the specific entity resp. on the given differential diagnosis in question. Regarding prognostic/predictive molecular testing, the choice of assay and the workflow are based on clinical algorithms and on the evidence of targeted therapies following the molecular alterations. In this review paper, we aim to address the use of molecular technics in [1] the histological diagnostic setting (such as subtyping of invasive carcinomas/malignant spindle cell tumors and sarcomas and some B3 lesions) and [2] in the context of adjuvant or neoadjuvant or other clinical settings with special focus of targeted therapies.

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Tall cell carcinoma with reverse polarity of breast: report of a case with unique morphologic and molecular features

Cited by 8 publications

References 18 publications

The Diagnostic Utility of IDH2 R172 Immunohistochemistry in Tall Cell Carcinoma With Reversed Polarity of the Breast

The Diagnostic Utility of IDH2 R172 Immunohistochemistry in Tall Cell Carcinoma With Reversed Polarity of the Breast

Tall Cell Carcinoma With Reversed Polarity of the Breast

Molecular pathology in breast disease: diagnostic, prognostic, and therapeutic tools

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