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Situs inversus totalis associated with a tumor in the cecum:
A case report and literature review
Abstract
Introduction: Situs inversus totalis is an unusual anomaly characterized by a mirror-image
transposition of the abdominal and thoracic viscera. The correlation between situs inversus
totalis and cancer remains unclear. We report the case of a patient with situs inversus totalis,
colon cancer, and malformation of the inferior vena cava.
Presentation of Case: Our patient was a 32-year-old man with situs inversus totalis who was
diagnosed with colon cancer. Computed tomography demonstrated a colon mass in the cecum
that biopsy identified as adenocarcinoma. The patient was successfully treated with a right
hemicolectomy followed by adjuvant chemotherapy, and is doing well without recurrence 2
years after surgery.
Conclusion: The occurrence of colon cancer in a patient with situs inversus totalis is rare. In
this setting, surgical management should be considered when the tumor is resectable with not
contraindication, and must be preceded by careful preoperative staging.
Introduction
Situs inversus totalis (SIT) is a rare congenital condition characterized by a mirror-image
transposition of both the abdominal and thoracic viscera with an incidence of 1/8.000 to
1/25.000 in the normal population.1 This condition may complicate the diagnosis and
therapeutic management of abdominal pathology. 2,3 Approximately 70% of patients with SIT
have other malformations, mainly those involving the gastrointestinal tract (biliary tree
atresia, small bowel atresia, and colonic aganglionosis). Forty percent of these patients have
malformations outside the digestive tract, with congenital heart disease being the most
common.3 Here, we report the case of a 32-year-old patient with SIT, colon cancer in the
cecum, and malformation of the inferior vena cava (IVC) who underwent a right
hemicolectomy.
Case Report
A 32-year-old man was examined in our hospital for SIT and a colon tumor in the cecum. His
only significant medical history was fatigue and weakness. His family history was essentially
negative for SIT or familial and hereditary diseases. The clinical features at admission were
as follows: blood pressure, 130/70 mmHg; pulse, 60 beats/min; and temperature, 36.5°C. The
palpebral conjunctivae were anemic. Breath sounds were normal. The abdomen was flat, soft,
and non-tender. Regarding laboratory findings, a decreased red blood cell count of 3.8
million (range 4.5–6 million) and hemoglobin levels of 12.2 mg/dL (range, 13–18 mg/dL)
were noted, with no hepatic or renal dysfunction or electrolyte abnormalities. Computed
tomography (CT) revealed dextrocardia, situs inversus in the colon in which a spenic flexure
of the colon was on the right side of the abdomen with the ileocecal region on the left side
(Fig. 1). A 3.0 × 2.5 cm localized elevated lesion was present in the cecum that was
associated with regional adenopathies (Fig. 2 A, B). The remainder of the colon and upper
gastrointestinal tract were unremarkable.
CT revealed abnormalities including an anomaly of the IVC. The area from the origin until
the level of the renal vein was normal. At this level, an interruption of the IVC and extensive
vena axygos localized on the left side due to situs inversus were seen (Fig. 3). In addition, CT
showed dilatation of the vena axygos in the upper part of the posterior mediastinum in the
thoracic cavity where the diameter was the same as that of the thoracic aorta (2.5 cm). A big
development shows too and vena hemiaxygos. Anyway, the development of hemiaxygos vein
is less dilated compared with axygos vein. A short segment of the IVC was seen before the
entrance to the right atrium (Fig. 4). Based on these findings, the patient was diagnosed with
a tumor of the cecum and, hence, resection of the cecum and ascending colon were performed.
An end-to-end functional anastomosis between the ileum and the transverse colon was
performed. Histopathologically, the primary lesion was cecum colon cancer with moderately
differentiated adenocarcinoma (Fig. 5).
Discussion
SIT was first described in 1600 by Fabricius.4 This congenital condition involves inverted
positions of all the thoracic and abdominal organs that represent mirror images of their
normal locations.3 In the abdomen, the stomach, spleen, and pancreas are on the right side of
the body, the liver and gallbladder are on the left side, and the colonic flexures are
reversed.4,5 Situs inversus itself has no pathophysiological significance but poses diagnostic
and surgical difficulties due to inversion. SIT is frequently associated with other disorders
including Kartagener’s syndrome, primary ciliary dyskinesia, and asplenia or polysplenia. 1,6
Other authors have reported additional concurrent anomalies of the digestive system
including a short pancreas, symmetric lobulation of the liver, biliary atresia, absence of the
gallbladder, and genitourinary anomalies; the blood vessels, nerves, and lymphatic vessels are
also transposed.1,7
Hence, we can distinguish partial and complete visceral situs inversus.6,7 In the first case,
organs of either the thorax or abdominal cavity are reversed, whereas in the latter, all organs
of the thorax and abdominal cavity are inverted. The pathogenic mechanisms of SIT have not
been well elucidated. Some genetic patterns are involved, including an autosomal recessive
gene located on chromosome 14 and deletions affecting chromosomes 7 or 8; 8 Recently,
significant advancements in the understanding of the possible molecular pathways in SIT
suggest that mutations affecting the CCDC11 and DNAH11 genes are involved in autosomal
recessive laterality defects of a diverse phenotype resulting in SIT.9 It has also been shown
that mutations in the transforming growth factor-β family gene and transcription factor
hepatocyte nuclear factor-3β have a probable role in the process.8,9
The association of SIT with neoplasia is rare; only sporadic cases have been reported. The
first case published by Maekawa in 1927 was an autopsy case of gastric carcinoma in a 43year-old man with SIT.10 SIT is not considered a premalignant condition; however, despite its
rarity, a relationship between situs abnormalities and cancer has been suggested. 10 Many
different cancers have been reported (cancer of the stomach, colon, pancreas, biliary tract,
ampulla of Vater, and kidney).1,2,3,7,8
SIT makes surgery challenging because of the difficulty in following surgical protocols.
However, the presence of anatomic variations should not modify the principles of oncologic
surgery. The surgical technique for situs inversus does not differ from the technique routinely
used. However, since this condition is often complicated by anomalies of the vascular and
hepatobiliary system, it is important to confirm their anatomic locations by preoperative
imaging.
A comprehensive search of the PubMed, Cochrane, and Embase databases was performed in
March 2014 using the medical subject heading “colon cancer in SIT”. In the setting of SIT,
only a few cases have been reported, all of which were colon carcinoma cases;1,2 however,
no case of colon cancer in a patient with SIT and vena cava inferior malformation has been
reported.
Conclusion
SIT is an uncommon entity that often occurs concomitantly with other abnormalities. The
relationship between SIT and cancer has not been confirmed; further studies are needed to
identify the precise genetic and molecular patterns involved in the development of
malignancy in these patients. Because of the frequency of associated malformations of
transposed organs and vascular and nervous anatomical variations that make surgical
management difficult, special attention should be paid to diagnosis and preoperative staging.
To our knowledge, this is the first case of the unusual association of SIT and adenocarcinoma
of the cecum and venae cava malformation to be reported in the literature.
Disclosure: Authors have no conflict of interests.
References
1. Lee SE, Kim HY, Jung SE, Lee SC, Park KW, Kim WK (2006) Situs anomalies and
gastrointestinal abnormalities. J Pediatr Surg, 41 (suppl 7):1237-1242
2. Uemura S, Maeda H, Munekage M, Yoshioka R, Okabayashi T, Hanazaki K (2009)
Hepatic resection for metastatic colon cancer in patients with situs inversus totalis
complicated by multiple anomalies of the hepatobiliary system: the first case report. J
Gastrointest Surg, 13 (suppl 9):1724-1727
3. Gastrointestinal: situs inversus viscerum(2002) J Gastroenterol Hepatol 17: 1329
4. Takei HT, Maxwell JG, Clancy TV, Tinsley EA (1992) Laparoscopic cholecystectomy in
the situs inversus totalis. J Laparoendosc Surg 2: 171-176
5.
Pan K, Zhong D, Miao X, Liu G, Jiang Q, Liu Y (2012) Situs inversus totalis with carcinoma
of gastric cardia: a case report. World J Surg Oncol 11; 10:263
6. Peeters H,
Devriendt K (2006) Human laterality disorders. Eur J Med Genet 49 (suppl 5):349-362
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ERCP and endoscopic sphincterotomy in patients with situs inversus. Gastrointest Endosc
31(5): 338-340
8.
Iusco DR, Sacco S, Ismail I, Bonomi S, Virzi S (2012) Three-trocar laparoscopic
cholecystectomy in patient with situs viscerum inversus totalis: case report and review of the
literature. G Chir 33 (suppl 1-2):10-13
9. Perles Z, Cinnamon Y, Ta-Shma A, Shaag A, Einbinder T, Rein AJ, Elpeleg O (2012) A
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Kim HJ, Choi GS, Park JS, Lim KH, Jang YS, Park SY, Jun SH (2011) Laparoscopic right
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Fig. 1
CT scan shows a liver in the left side. Aorta with the placement on the right and near it v.
axygos and hemyaxygos with transposition
Fig. 2 A
CT demonstrated a mass in the cecum with perifocal infiltration and regional
lymphadenopathy (axial plane)
Fig. 2 B
CT demonstrated a mass in the cecum with perifocal infiltration and regional
lymphadenopathy (coronal plane)
Fig. 3
CT-scan showed the amputation of IVC at the level of renal veins. Transposition of the aorta
and IVC
Fig. 4
CT-scan showed dextrocardia with a terminal short segment of IVC entering in right atrium
Fig. 5
Histopathological study showed moderately differentiated adenocarcinoma in the cecum