Differential diagnosis of pulmonary enteric adenocarcinoma and metastatic colorectal carcinoma with the assistance of next-generation sequencing and immunohistochemistry

Zhang, Jie; Xiang, Chan; Han, Yuchen; Teng, Haohua; Li, Xiaojing; Shao, Jinchen; Zhu, Lei; Han‐Zhang, Han; Ye, Junyi; Yu, Kejing

doi:10.1007/s00432-018-2788-0

Cited by 19 publications

(27 citation statements)

References 20 publications

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“…Currently, only after MCAC is clinically excluded by colonoscopy can a pathologist render a diagnosis of primary PEAC. Recent studies have shown that PEAC demonstrates similar mutational characteristics to non-small cell lung cancer, rather than to primary or metastatic colorectal adenocarcinoma [14]. The proportion of adenocarcinoma, squamous cell carcinoma and small cell carcinoma was slightly higher than that of Asian population from SEER database, which were 61.4% vs 58.1, 23.3% vs 15.5, 10.1% vs 7.8% respectively.…”

Section: Discussionmentioning

confidence: 88%

“…Usually, MCAC does not have other morphological subtypes except enteric morphology, and CK7, TTF-1 and Napsin A are generally negative in MCAC [13]. In rare cases, the MCAC can express TTF-1, where it may not be completely distinguished from PEAC [14]. Therefore, for the patients with a history of colorectal cancer and a lung lesion of microscopical enteric morphology, a diagnosis of MCAC is a priority.…”

Section: Discussionmentioning

confidence: 99%

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Analysis of lung biopsies using the 2015 WHO criteria and detection of sensitizing mutations——a single-institution experience of 5032 cases

et al. 2020

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Background: A specialized classification for small biopsies was added to the 2015 WHO classification of lung tumors. The purpose of this study is to explore and summarize the experience of applying the newly proposed classifications and criteria to clinical practice. Methods: We used the 2015 WHO criteria to sort out 5032 small lung biopsies from a group of Chinese patients, and demonstrated their clinicopathological features, mutational status and the relationship between these factors. Results: The most common diagnosis was primary lung carcinoma (3130, 62.2%), among which adenocarcinoma (1421, 28.2%) was the most frequent histological type. The mutational assays using ARMS-PCR technology demonstrated that EGFR was positive in 56.1% cases(499/889, from adenocarcinoma and NSCC, favor adenocarcinoma), ALK in 5.7% cases(12/211, from NSCC, which comprised all the primary lung carcinomas except small cell carcinomas), and ROS1 in 0.9% cases(2/211, from NSCC). Another 898 NSCC specimens went through an immunohistochemical (IHC) examination for ALK (D5F3) and 38 of them were positive (4.2%). The overall mutation rate of ALK was 4.5% (50/1119). There was no significant difference between ARMS-PCR and immunohistochemistry in the positive rate of ALK mutation detection (P = 0.359). EGFR mutations (P = 0.02) and ALK mutations (P < 0.001) both decreased with an increasing patient age. Furthermore, the amount of EGFR mutations was higher in adenocarcinoma (64.1% vs 34.1%, P < 0.001) than in NSCC, favor adenocarcinoma. In contrast, ALK mutations were more common in NSCC, favor adenocarcinoma (4.2% vs 8.4%, P = 0.021). Conclusions: This single-center study exhibited a large subset of small lung biopsies from a Chinese institution and demonstrated that applying the 2015 WHO classification for small lung biopsies can help predict the mutational status of primary lung carcinomas.

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Section: Discussionmentioning

confidence: 88%

Section: Discussionmentioning

confidence: 99%

Analysis of lung biopsies using the 2015 WHO criteria and detection of sensitizing mutations——a single-institution experience of 5032 cases

et al. 2020

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“…Lung adenocarcinoma with enteric differentiation has been long considered a rare clinical-pathological entity, with most reports being anecdotal for decades. However, an increasing interest has been addressed by both pathologists and clinicians towards this NSCLC variant, as proved by the numerous cases described in the last 3 years (Refs 11, 12, 19, 20, 23, 24, 25, 26). At present, there is the lack of consensus about the diagnostic criteria to be employed, making the differential diagnosis between PAED and MCC often complicated and mainly based on the exclusion of synchronous or metachronous gastrointestinal malignancies (Refs 8, 17, 18, 20, 21, 29, 30).…”

Section: Discussionmentioning

confidence: 99%

“…These findings allowed to draw up a possible algorithm suitable for differential diagnosis (Ref. 25).…”

Section: Genomic Assessmentmentioning

confidence: 99%

Pulmonary enteric adenocarcinoma: an overview

Palmirotta

Lovero

D’Oronzo

et al. 2020

Expert Rev. Mol. Med.

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Most commonly described as sporadic, pulmonary adenocarcinoma with enteric differentiation (PAED) is a rare variant of invasive lung cancer recently established and recognised by the World Health Organization. This tumour is highly heterogeneous and shares several morphological features with pulmonary and colorectal adenocarcinomas. Our objective is to summarise current research on PAED, focusing on its immunohistochemical and molecular features as potential tools for differential diagnosis from colorectal cancer, as well as prognosis definition and therapeutic choice. PAED exhibits an ‘entero-like’ pathological morphology in more than half cases, expressing at least one of the typical immunohistochemical markers of enteric differentiation, namely CDX2, CK20 or MUC2. For this reason, this malignancy appears often indistinguishable from a colorectal cancer metastasis, making the differential diagnosis laborious. Although standard diagnostic criteria have not been established yet, in the past few years, a number of approaches have been addressed, aimed at defining specific immunohistochemical and molecular signatures. Based on previously published literature, we have collected and analysed molecular and immunohistochemical data on this rare neoplasm, and have described the state of the art on diagnostic criteria as well as major clinical and therapeutic implications. The analysis of data from 295 patients from 58 published articles allowed us to identify the most represented immunohistochemical and molecular markers, as well as major differences between Asian PAEDs and those diagnosed in European/North American countries. The innovative molecular approaches, exploring driver mutations or new gene alterations, could help to identify rare prognostic factors and guide future tailored therapeutic approaches to this rare neoplasm.

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“…3 With the advance of nucleic acid sequencing technologies over the recent years, new perspectives are emerging in the field of cancer characterization, but the rarity of PEAC hindered the identification of specific molecular signatures to apply in differential diagnosis, prognostic stratification, and prediction of response to therapy. 4 Contrasting data suggest the presence of typical NSCLC driver mutations (EGFR, ALK, and ERBB2) with variable percentages, 5 while more recent (but small) studies indicate that the methylation or microRNA (miRNA) patterns can be used as molecular indicators of differentiation from colon carcinoma. 4,6 Here, we describe the clinical case of a patient admitted to our clinical evaluation after diagnosis of metastatic enteric lung adenocarcinoma.…”

Section: Introductionmentioning

confidence: 99%

Cutaneous metastasis as a primary presentation of a pulmonary enteric adenocarcinoma

et al. 2019

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Background: Primary pulmonary enteric adenocarcinoma (PEAC) is a rare non-small cell lung cancer subtype sharing morphologic and immunohistochemical features with colorectal adenocarcinoma. Given the frequency of lung metastases in colorectal cancer, the differential diagnosis of PEAC according to routine morphological and immunohistochemical findings may be difficult. Genome sequence by next-generation sequencing has recently introduced new perspectives to better define the diagnosis and tumor sensitivity to treatments, while the rarity of this subtype of cancer still limits the current knowledge of its molecular features and provides no information to address patients to tailored therapies. Methods: We diagnosed a rare case of subcutaneous metastasis as a first symptom of a PEAC. Formalin-fixed paraffin-embedded samples of the primary tumor and subcutaneous metastases were examined by immunohistochemistry, and subsequently by targeted next-generation sequencing analysis. Results: Morphological and immunohistochemical findings suggested a rare case of metastatic pulmonary adenocarcinoma with enteric aspects. Next-generation sequencing analysis performed on both the primary tumor sample and the cutaneous lesion identified two pathogenic variants on CDKN2A and KRAS in both of them. However, the metastasis showed two additional pathogenic mutations located in SMAD4 and FLT3 genes. Conclusions: We describe for the first time an extensive molecular analysis on a rare case of PEAC with an unusual cutaneous metastasis. Our observation suggests that a specific pattern of mutations is harbored in this neoplasm, and that additional molecular studies may provide further information to identify prognostic and hopefully predictive genes of response to treatment.

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Differential diagnosis of pulmonary enteric adenocarcinoma and metastatic colorectal carcinoma with the assistance of next-generation sequencing and immunohistochemistry

Cited by 19 publications

References 20 publications

Analysis of lung biopsies using the 2015 WHO criteria and detection of sensitizing mutations——a single-institution experience of 5032 cases

Analysis of lung biopsies using the 2015 WHO criteria and detection of sensitizing mutations——a single-institution experience of 5032 cases

Pulmonary enteric adenocarcinoma: an overview

Cutaneous metastasis as a primary presentation of a pulmonary enteric adenocarcinoma

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