Stepwise addition of genetic changes correlated with histological change from “well-differentiated” to “sarcomatoid” phenotypes: a case report

Goto, Taichiro; Hirotsu, Yosuke; Mochizuki, Hitoshi; Nakagomi, Takahiro; Oyama, Toshio; Amemiya, Kenji; Omata, Masao

doi:10.1186/s12885-017-3059-1

Cited by 26 publications

(29 citation statements)

References 7 publications

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“…In general, cancers comprise populations of cells with various molecular and phenotypic features, a phenomenon termed intratumor heterogeneity [14,15]. This may bolster tumor adaptation, cancer progression and metastasis, and/or therapeutic failure through negative selection [14,16]. Conversely, a driver mutation triggers clonal expansion and is retained ubiquitously within the tumors of the same clone [16,17].…”

Section: Discussionmentioning

confidence: 99%

Identification of Clonality through Genomic Profile Analysis in Multiple Lung Cancers

Higuchi

Nakagomi

Goto

et al. 2020

JCM

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In cases of multiple lung cancers, individual tumors may represent either a primary lung cancer or both primary and metastatic lung cancers. In this study, we investigated the differences between clinical/histopathological and genomic diagnoses to determine whether they are primary or metastatic. 37 patients with multiple lung cancers were enrolled in this study. Tumor cells were selected from tissue samples using laser capture microdissection. DNA was extracted from those cells and subjected to targeted deep sequencing. In multicentric primary lung cancers, the driver mutation profile was mutually exclusive among the individual tumors, while it was consistent between metastasized tumors and the primary lesion. In 11 patients (29.7%), discrepancies were observed between genomic and clinical/histopathological diagnoses. For the lymph node metastatic lesions, the mutation profile was consistent with only one of the two primary lesions. In three of five cases with lymph node metastases, the lymph node metastatic route detected by genomic diagnosis differed from the clinical and/or pathological diagnoses. In conclusion, in patients with multiple primary lung cancers, cancer-specific mutations can serve as clonal markers, affording a more accurate understanding of the pathology of multiple lung cancers and their lymphatic metastases and thus improving both the treatment selection and outcome.

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Section: Discussionmentioning

confidence: 99%

Identification of Clonality through Genomic Profile Analysis in Multiple Lung Cancers

Higuchi

Nakagomi

Goto

et al. 2020

JCM

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“…Buffy coat DNA was used as a template, and the sequencing library was generated using an AmpliSeq Library kit 2.0 (Thermo Fisher Scientific, Inc.) (24-31). Next-generation sequencing analysis was subsequently performed on an Ion PGM or Ion Proton platform (Thermo Fisher Scientific, Inc.) (24)(25)(26)(27)(28)(29)(30)(31).…”

Section: Case Reportmentioning

confidence: 99%

PALB2 mutation in a woman with bilateral breast cancer: A case report

Nakagomi

Hirotsu

Okimoto

et al. 2017

Molecular and Clinical Oncology

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Abstract. Partner and localizer of breast cancer 2 (PALB2) was identified as a moderate-risk gene of breast and pancreas cancer. The present authors previously reported that no PALB2 germline mutations with a deleterious frameshift or stop codons were identified in 155 Japanese patients with breast and/or ovarian cancer who were estimated to be at risk of hereditary cancer, according to the National Comprehensive Cancer Network (NCCN) criteria. In the present study, one patient with a deleterious mutation of PALB2 (c. 2834+2 T>C) has been identified from a study of an additional 128 cases. Therefore, the prevalence of PALB2 among Japanese patients is now estimated to be 0.35% (1/283). The proband was a 63-year-old woman with bilateral breast cancer, although she had experienced no other cancers. The proband had two elder sisters, the eldest of whom died from pancreatic cancer at 60 years of age. The proband's 40-year-old daughter was affected, but did not show any malignancies. There are only a few reports concerning PALB2 mutations in Japan. To the best of our knowledge, this is the first case study to reveal the significance of DNA-repair genes in the development of malignancies in Japanese patients with breast cancer. IntroductionThe significance of the breast cancer 1 (BRCA1) and BRCA2 mutations in familial breast and ovarian cancer has been well established (1,2). However, the mutations of these genes are estimated to cause, at most, 20-30% of cases of hereditary breast cancer (3). The present authors studied the BRCA1/2 mutations in 191 patients in a previous study, but the prevalence was shown to be unexpectedly low (4,5). In fact, it was only 7% among the analyzed patients who had a family history of breast cancers.Partner and localizer of BRCA2 (PALB2) was identified as a moderate-risk gene in breast and pancreas cancer (6). PALB2 is located on chromosome 16p12.2 containing 13 exons and 12 introns, and is involved in BRCA2-associated pathways (6). Recently, Antoniou et al (7) reported that PALB2 carriers have a high risk of developing breast cancer, and concluded that the cumulative risk of mutation carrier was 34% by the age of 70 in their prospective follow-up study on 154 families.The prevalence of the PALB2 mutation was reported to be 1.2-3.4% in European countries, whereas it is very rare in Asian countries (8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18). To the best of our knowledge, no study has been performed that has identified the PALB2 deleterious mutation in Japanese patients with breast cancer. From our first cohort data, no deleterious PALB2 mutations were identified in 155 patients with breast and/or ovarian cancer who were estimated to be at risk of hereditary cancer according to the National Comprehensive Cancer Network (NCCN) criteria (19). In the present case study, an additional 128 cases having breast and/or ovarian cancer were studied, and the case of a patient with bilateral breast cancer is presented who harbors the deleterious mutation in PALB2. Factoring in the first cohort of 155 c...

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“…Chemotherapy is necessary for cases with metastases in the lymph nodes (3). The prognosis of SCP is extremely poor (21)(22)(23) and may be associated with the tumor's volume and histological type, and the extent of local lymph node metastases. The average life expectancy is 2-3 months (24,25), with a 3-year survival rate of less than 3% (26).…”

Section: Discussionmentioning

confidence: 99%

Sarcomatoid carcinoma of the pancreas: A case report and review of the literature

et al. 2018

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Sarcomatoid carcinoma (SC) is an extremely rare and complicated malignant neoplasm that consists of both malignant epithelial components and atypical spindle cells that express an epithelial phenotype. The presents study reported a case of SC of the pancreas (SCP), along with a brief review of the literature. A 63‑year‑old man was admitted to The Second Hospital of Jilin University hospital with complaints of epigastralgia and jaundice of one month in duration. Based on preoperative laboratory blood tests and radiography, a mass at the distal common bile duct was suspected. Intraoperative examination discovered a 2.5x2x1.8‑cm mass in the pancreatic head, with invasion of the distal bile duct. Pancreaticoduodectomy was performed. Histopathology and immunohistochemistry of the specimen confirmed the diagnosis of SCP. The patient succumbed 18 months after surgery due to multiple hepatic metastases.

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Stepwise addition of genetic changes correlated with histological change from “well-differentiated” to “sarcomatoid” phenotypes: a case report

Cited by 26 publications

References 7 publications

Identification of Clonality through Genomic Profile Analysis in Multiple Lung Cancers

Identification of Clonality through Genomic Profile Analysis in Multiple Lung Cancers

PALB2 mutation in a woman with bilateral breast cancer: A case report

Sarcomatoid carcinoma of the pancreas: A case report and review of the literature

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