Long-Term Survival of a Lynch Syndrome Patient With Eight Primary Tumors: A Case Report

Abstract

With the modern technological developments in the diagnosis and treatment of cancer, the survival rate of cancer patients has increased. On the other hand, the incidence of multiple primary tumors is increasing annually. Lynch syndrome (LS), an autosomal dominant disorder with germline mutations in DNA mismatch repair genes, increases the risk of cancer in patients carrying those mutations. In this report, we present an extremely rare case of an 81-year-old male patient with eight primary malignancies and LS. The patient is still alive having survived for more than 41 years since the initial discovery of the first tumor. The eighth and most recently diagnosed primary cancer was a malignant peripheral nerve sheath tumor. Although there have been numerous reports of malignancies in LS, malignant peripheral nerve sheath tumors have not been reported previously with LS. Here, we report, to the best of our knowledge, the first case of a malignant peripheral nerve sheath tumor with LS.

Keywords: long-term survival; lynch syndrome; malignant peripheral nerve sheath tumor; multiple primary tumors; prostatic carcinoma.

Figure 1

Pedigree of the family. The arrow (→) points to the proband. Squares and circles respectively represent males and females. Roman numerals indicate generations. Solid symbols represent cancer patients. Symbols with a slash indicate deceased individuals. The number below shows the initial onset age. Patient number II2 is the proband. Patients number I1and I2 suffered from colon cancer at the age of 60. Patient number II1 suffered from malignant melanoma of the perineum at the age of 80. Patient number II5 suffered from colon cancer at the age of 50. Patients number II10 and III3 suffered from colon cancer before the age of 50. Furthermore, patient number II10 also suffered from transverse colon carcinoma at the age of 57. Patient number III4 suffered from ovarian cancer at 40, and breast carcinoma at 47.

Figure 2

(A, B) The needle core biopsies of the prostate show a high-grade prostatic adenocarcinoma. (A, hematoxylin–eosin×100; B, hematoxylin–eosin×200). (C–F) Absence of MSH2 and MSH6 staining, and positive staining for MLH1and PMS2 in the prostatic tumor (original magnifications ×200). (G–J) Absence of MSH2 and MSH6 staining, and positive staining for MLH1and PMS2 in the malignant peripheral nerve sheath tumor (original magnifications ×200).

Figure 3

Computed tomography (CT) demonstrated a malignant tumor in the right groin area, and the size of the mass was approximately 6.3 cm × 3.1 cm × 2.0 cm. (A) Imaging in the coronal section. (B) Tomography scan in the transverse section of the lesion.

Figure 4

The needle core biopsies of the malignant peripheral nerve sheath tumor. (A) Medium‐power image of the tumor area shows spindle-cell tumors with dense arrangement and fascicular hyperplasia (hematoxylin–eosin×200). (B) High‐power image of the tumor area shows that the nuclei of the tumor cells are deeply stained, irregular in shape, tadpole-like at the ends, and mitotic figures are readily apparent. (C) The tumor cells showed pleomorphism, and large pleomorphic cells were observed in some areas. (D) In the sparse cell area, the cell morphology was mostly elongated and wavy. (B–D; hematoxylin–eosin×400).