case report: Triple synchronous primary malignancies of the colon, endometrium and kidney in a patient with Lynch syndrome (MSH6)...

 synchronous (at the same time)

open access: Triple synchronous primary malignancies of the colon, endometrium and kidney in a patient with Lynch syndrome 

Highlights

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Consider synchronous tumors in patients presenting with a genetic risk by history.

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Consider synchronous tumors in patients presenting with a deleterious mutation.

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Minimally invasive surgical options will optimize patient outcomes.

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Abstract

Coexisting primary malignancies have been described at length in the literature. While double primary malignancies are relatively common, three synchronous primary malignancies are extremely rare.

We describe a case of a 60-year-old woman undergoing surgery for a known endometrial carcinoma. The patient also had a renal mass that was identified as a clear cell renal cell carcinoma and an additional lesion in the colon that was a mucinous adenocarcinoma. Further genetic testing of the patient revealed a deleterious MSH6 mutation suggestive of Lynch syndrome. The patient had all tumors addressed by minimally invasive techniques at the same operative intervention.

It is important to consider hereditary cancer syndromes in women with a strong family history presenting with synchronous multiple primary malignancies. A multidisciplinary surgical approach is key to best practices and optimal patient outcomes.

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1. Introduction

Synchronous primary tumors of the female reproductive tract are not rare conditions. Double primary malignancies have been extensively studied, with the most frequent synchronous neoplasms being endometrial and ovarian cancers. Triple primary malignancies, on the other hand, are very rare and it is necessary to distinguish the malignancies as primary versus metastases. To our knowledge, there have been few studies in the literature that demonstrate the existence of triple simultaneous neoplasms (Isin Dogan Ekici et al., 2006, Hale et al., 2011, Takatori et al., 2014, Phupong et al., 2007, Ozan et al., 2008 and Capilna et al., 2014).

In this report, we identify and present the findings from a patient with synchronous endometrial carcinoma, renal cell carcinoma and mucinous adenocarcinoma with signet ring cell features of the colon. We believe this to be the first report of this histological combination of malignancies. Genetic testing of the patient was positive for a deleterious mutation in MSH6, suggestive of Lynch syndrome. A multidisciplinary surgical approach helped our patient have combined procedures done via minimally invasive approaches at one sitting with excellent surgical outcomes.

2. Case

A 60-year-old, Hispanic female gravida 3 para 3 postmenopausal female presented with symptoms of abdominal pain, bloating, flatulence, diarrhea and urinary frequency and postmenopausal bleeding. She was referred by her gynecologist after endometrial biopsy showed moderately differentiated endometrial adenocarcinoma. On preoperative PET imaging (Fig. 1) she also had a 6 cm right upper pole renal mass that was suggestive of renal cell carcinoma and a lesion in the transverse colon seen at the time of colonoscopy consistent with either a primary malignancy or metastatic disease. The patient had no significant medical or gynecologic history and a BMI of 26.3. Her family history was significant for an uncle with colon cancer (age 60), a sister with ovarian cancer (age 45), her mother had breast (age 33) and uterine cancer (age 60) and a grandmother with uterine cancer (age 50). Until now, no other family member had been tested for any hereditary cancer mutations....

Patients with MSH6 gene deletions are also found to have cancers diagnosed at later ages compared to patients with MLH1 and MSH2 gene mutations (Hendricks et al., 2004). This may alter screening guidelines in women with MSH6 mutations because cancers do not arise until later in life.