Triple synchronous primary malignancies of the colon, endometrium and kidney in a patient with Lynch syndrome treated via minimally invasive techniques

Méndez, Luis; Atlass, Jacqueline

doi:10.1016/j.gore.2016.05.007

Cited by 6 publications

(5 citation statements)

References 13 publications

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“…Synchronous multifocal tumors across tissues are common in clinic, most of which are metastatic, and a small number of which are multiple primary tumors . Failure to make a definitive tissue origin diagnosis is a main cause of poor prognosis for these patients.…”

Section: Introductionmentioning

confidence: 99%

“…Synchronous multifocal tumors across tissues are common in clinic, most of which are metastatic, and a small number of which are multiple primary tumors. [1][2][3][4] Failure to make a definitive tissue origin diagnosis is a main cause of poor prognosis for these patients. As a result, doctors are often faced with the dilemma of deciding on what course of clinical management is best: immediate surgery or system treatment (e.g., chemotherapy and targeted therapy).…”

Section: Introductionmentioning

confidence: 99%

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A naive Bayes algorithm for tissue origin diagnosis (TOD‐Bayes) of synchronous multifocal tumors in the hepatobiliary and pancreatic system

Jiang

Shen

Ding

et al. 2017

Intl Journal of Cancer

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Synchronous multifocal tumors are common in the hepatobiliary and pancreatic system but because of similarities in their histological features, oncologists have difficulty in identifying their precise tissue clonal origin through routine histopathological methods. To address this problem and assist in more precise diagnosis, we developed a computational approach for tissue origin diagnosis based on naive Bayes algorithm (TOD-Bayes) using ubiquitous RNA-Seq data. Massive tissue-specific RNA-Seq data sets were first obtained from The Cancer Genome Atlas (TCGA) and ∼1,000 feature genes were used to train and validate the TOD-Bayes algorithm. The accuracy of the model was >95% based on tenfold cross validation by the data from TCGA. A total of 18 clinical cancer samples (including six negative controls) with definitive tissue origin were subsequently used for external validation and 17 of the 18 samples were classified correctly in our study (94.4%). Furthermore, we included as cases studies seven tumor samples, taken from two individuals who suffered from synchronous multifocal tumors across tissues, where the efforts to make a definitive primary cancer diagnosis by traditional diagnostic methods had failed. Using our TOD-Bayes analysis, the two clinical test cases were successfully diagnosed as pancreatic cancer (PC) and cholangiocarcinoma (CC), respectively, in agreement with their clinical outcomes. Based on our findings, we believe that the TOD-Bayes algorithm is a powerful novel methodology to accurately identify the tissue origin of synchronous multifocal tumors of unknown primary cancers using RNA-Seq data and an important step toward more precision-based medicine in cancer diagnosis and treatment.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A naive Bayes algorithm for tissue origin diagnosis (TOD‐Bayes) of synchronous multifocal tumors in the hepatobiliary and pancreatic system

Jiang

Shen

Ding

et al. 2017

Intl Journal of Cancer

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“…Patients with Lynch syndrome have increased lifetime risk for malignancies such as colorectal, endometrial, ovarian, pancreatic, and urothelial cancer (4,5). Affected individuals can develop both synchronous and metachronous primary cancers; some case reports note as many as three synchronous and five metachronous primary cancers (6,7). Tumors arising from Lynch syndrome are dMMR, and the majority are MSI-H (4,5).…”

Section: Discussionmentioning

confidence: 99%

Immunotherapy in synchronous MSI-H rectal adenocarcinoma and upper tract urothelial carcinoma: a case report

Hsieh-Wong¹,

Liu²,

Huynh³

et al. 2022

J Gastrointest Oncol

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Background: A growing body of evidence suggests that conventional chemotherapy may not be effective in mismatch repair deficiency (dMMR)/microsatellite instability-high (MSI-H) locally advanced rectal cancer (LARC). Alternative strategies, such as immunotherapy, are currently being investigated both in the neoadjuvant and adjuvant setting. Furthermore, immunotherapy is an attractive alternative to the use of combination chemotherapy regimens when treating synchronous primary cancers such as in the setting of inherited cancer syndromes.Case Description: Here we present a case of a middle-aged woman diagnosed with dMMR/MSI-H locally advanced rectal cancer with synchronous upper tract urothelial cancer secondary to Lynch syndrome.The patient was first treated using neoadjuvant chemotherapy followed by chemoradiation, resulting in only a partial pathologic response. Following surgery, the patient was treated with adjuvant combination immunotherapy with nivolumab, a PD-1 inhibitor, and ipilimumab, a CTLA-4 inhibitor, resulting in a durable disease-free interval of nearly 21 months.Conclusions: This case report illustrates the importance of determining dMMR/MSI-H status in LARC and the consideration of immunotherapy (particularly with synchronous primaries as seen in inherited cancer syndromes), reviews the current literature, and calls for further investigation into the use of neoadjuvant and adjuvant immunotherapy in locally advanced rectal cancer along with upper tract urothelial carcinoma (UTUC).

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“…A study conducted at Memorial Sloan Kettering Cancer Center identified 15 patients who had both RCC and malignant lymphoma at some point in time in their lives. Twelve of these patients had synchronous malignancies [14, 15]. Similarly, Ozturk et al described the coexistence of RCC with multiple myeloma in two patients [16].…”

Section: Discussionmentioning

confidence: 99%

Incidental Renal Cell Carcinoma in Pelvic Malignancies

Shaukat¹,

Mansha

Nasir

et al. 2019

Cureus

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Simultaneous diagnosis of renal cell carcinoma with pelvic malignancies is rare but a well-documented phenomenon. It is not uncommon to have incidental renal masses on imaging done for investigating other tumors. There are no established guidelines for the treatment of patients with dual malignancies. The management of such patients is challenging and requires a multidisciplinary approach. We present a series of three cases with a diagnosed pelvic malignancy but further workup revealed a kidney tumor. Both the malignancies were evaluated individually and diagnosed as two different primary neoplastic lesions. This case series examines each distinct patient’s presentation, discusses the diagnosis, and compares and contrasts the findings while discussing the literature on this topic.

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Triple synchronous primary malignancies of the colon, endometrium and kidney in a patient with Lynch syndrome treated via minimally invasive techniques

Cited by 6 publications

References 13 publications

A naive Bayes algorithm for tissue origin diagnosis (TOD‐Bayes) of synchronous multifocal tumors in the hepatobiliary and pancreatic system

A naive Bayes algorithm for tissue origin diagnosis (TOD‐Bayes) of synchronous multifocal tumors in the hepatobiliary and pancreatic system

Immunotherapy in synchronous MSI-H rectal adenocarcinoma and upper tract urothelial carcinoma: a case report

Incidental Renal Cell Carcinoma in Pelvic Malignancies

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