Advanced cancer with situs inversus totalis associated with KIF3 complex deficiency: Report of two cases

Abstract

Situs inversus totalis (SIT) is a relatively rare congenital anomaly, occurring at an incidence of 1 in 10 000-50 000 live births. Although there are some case reports of SIT with the presence of cancer, there are few reports on the relationship between SIT and cancer. However, the recent phylogenetic investigations of this condition suggest that this may be linked to the development and progression of cancer on the molecular level. The key elements are one of the intracellular motor proteins, the KIF3 complex, and the cell-adhesion factors N-cadherin and beta-catenin. We herein present the cases of advanced gastric cancer and lung cancer with SIT, and review the relationship between SIT and the development and progression of cancer.

A patient with chronic myeloid leukemia and situs inversus totalis: A case report

“…Although this may potentially explain the occurrence of cancer in the patient with SIT assessed in the present study, no genes have been conclusively identified as candidates for this dual role to the best of our knowledge (16). The pathogenetic mechanisms underlying SIT were elucidated by previous studies, and it was shown that kinesin (KIF)3, an intracellular motor protein, has an important role in establishing left-right asymmetry (17). Nodal flow is autonomously generated by the rotation of cilia tilted toward the posterior of the cells of the ventral node.…”

“…Information on multiple primary malignancies in patients with situs inversus or situs ambiguous (Table II), and cases of lymphoma and chronic granulocytic leukemia with situs inversus or situs ambiguous was provided (Table III). Although the occurrence of malignancy in patients with SIT may be coincidental, certain studies have suggested a possible association between malignancy and SIT (16)(17)(18). Previous studies have proposed that unidentified genes affecting the left-right axis arrangement may be associated with cancer susceptibility (19,20).…”

“…The cell adhesion molecules N-cadherin and β-catenin are not transported to the cell surface in patients with SIT due to the absence of function in the KIF3 complex (18). Consequently, the excess β-catenins in the cytoplasm enter the nucleus and activate genes associated with cell proliferation, thereby facilitating the development and progression of cancer in patients with SIT (17). Cell-cell adhesion assists in coordinating cellular organization and collective cell migration, and is critical for the directional looping of developing embryonic organs (23).…”

Laparoscopy-assisted distal gastrectomy for early gastric cancer and laparoscopic cholecystectomy for gallstone with situs inversus totalis: a case report

“…SIT is a relatively rare anomaly that occurs at an incidence of 1 in 10,000 to 50,000 of the population [1]. Recently, in patients with SIT, laparoscopic surgery has been performed, including a laparoscopic cholecystectomy, laparoscopic exploration of common bile duct, laparoscopic sigmoidectomy, laparoscopic sleeve gastrectomy [3] and LADG [2-4].…”

“…Situs inversus totalis (SIT) is a relatively rare condition found in 1 per 10,000 to 50,000 persons [1]. SIT is an autosomal recessive congenital defect in which the position of abdominal and/or thoracic organs is a "mirror image" of the normal one, in the sagittal plane.…”