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A case report of polysplenia with renal cell carcinoma
European Journal of Radiology Extra 52 (2004) 79–83
A case report of polysplenia with renal cell carcinoma Jamal A. Al-Koteesha , Hazem Al-Momania , Yazan A.J. Masannatb,∗ , Hugh J.R. Evansa a
Prince Philip Hospital, Llanelli, Wales, UK Morriston Hospital, Swansea, Wales, UK
b
Received 3 June 2004; received in revised form 17 August 2004; accepted 3 September 2004
Abstract Polysplenia is a well-known condition in which there is malposition and malformations of the abdominal and chest organs. We present a case of renal cell carcinoma in a 68-year-old patient with polysplenia syndrome, found incidentally when he was investigated for abdominal pain. This is the third case reported with this association of renal cell carcinoma and polysplenia. © 2004 Elsevier Ireland Ltd. All rights reserved. Keywords: Polysplenia; Situs ambiguus; Renal cell carcinoma
1. Introduction The normal arrangement and relation of body organs is called situs solitus, while situs inversus totalis is the complete mirror image of thoracic and abdominal viscera, and anything in between is called heterotaxia [1]. So, heterotaxia or situs ambiguus is the abnormal arrangement of organs and major blood vessels, in which the relation of atria and viscera is inconsistent. Isomerism is a form of heterotaxia to describe symmetric morphology, which is mainly divided into right and left isomerism. Right isomerism or asplenia syndrome is a rare association of agenesis of the spleen with congenital cyanotic heart disease, with malposition and nondevelopment of the abdominal viscera, while left isomerism or polysplenia syndrome is a type of situs ambiguus characterized by bilateral left sidedness [2]. The first report of polysplenia syndrome with renal tumour in an adult was in 1982 [3], and since then only one other case had been reported up to our knowledge. This report describes a third case of polysplenia with renal cell carcinoma, ∗ Corresponding author. Present address: 25 Pant Bryn Isaf, Llwynhendy, Llanelli, Carmarthenshire, SA14 9EQ, Wales, UK. Tel.: +44 1792 702222x437/1554 785194 (Home)/7821 001983 (Mobile); fax: +44 1554 783150. E-mail addresses: [email protected], [email protected] (Y.A.J. Masannat).
1571-4675/$ – see front matter © 2004 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.ejrex.2004.09.003
and compares the findings with the previously reported cases demonstrating similar features in all three cases.
2. Case report A 68-year-old gentleman who has a known case of dextrocardia since childhood, presented to the casualty department with 2-day history of abdominal pain. The pain was colicky in nature and generalized initially, which got localized to the epigastric region later. Initial bloods revealed leukocytosis of 16,000 while abdominal and chest X-rays only showed dextrocardia. Abdominal ultrasound scan revealed a centrally located and inflamed gall bladder and a solid mass arising from the left kidney that could be malignant. Urgent CT scan of the chest and abdomen was done (Figs. 1 and 2), which not only confirmed the ultrasound scan findings, but also showed dextrocardia, right-sided aortic arch and descending aorta, evidence of prominent azygous arch, enlargement of the azygous veins in the posterior mediastinum and the retro-peritoneum, midline liver and gall bladder, and multiple spleens on the left side of the abdomen. All findings are consistent with the diagnosis of polysplenia, acute cholecystitis and left renal tumour. Laparatomy showed a centrally located gangrenous gall bladder with localized perforation, lobulated centrally
80
J.A. Al-Koteesh et al. / European Journal of Radiology Extra 52 (2004) 79–83
Fig. 1. Contrast CT scan of the abdomen, showing (a) inhemogenous solid soft tissue mass arising from the left kidney and (b) centrally located inflamed gall bladder.
located liver, multiple left-sided spleens, bulky left-sided renal tumour and left-sided caecum and appendix. Cholecystectomy, left radical nephrectomy and splenectomy were done. Histology report showed acute chronic cholecystitis, chromophil or papillary renal cell carcinoma grade 2 (T3, N0 on TNM classification) and spleen and spleniculus. The postoperative period was uneventful, and the patient was allowed to go home. Seventeen months after the operation the patient had nonspecific abdominal pain, so he was investigated with ultrasound scan initially, which was not conclusive. CT scan of the abdomen showed a 5 cm low-density mass to the left of the aorta, at the level of the left renal hilum (Fig. 3), which was suspected to be a metastatic lymph node from the previous tumour, or residual splenic tissue. Abdominal MRI (Fig. 4) was done which showed that the patient had two inferior vena cavae below the level of the renal veins, and showed the soft tissue mass. The mass had mixed signal intensity with cystic and solid components, compressing the left inferior vena cava, but not obstructing it. Laparatomy revealed only dense adhesions, splenic tissue and no evidence of recurrence. Three years following the first operation the patient is alive and well with no evidence of recurrence.
3. Discussion Polysplenia is a complex syndrome with variable anatomical features [4]. The vast majority of polysplenia cases are sporadic without any certain aetiology [5], though a paper by Arnold et al. [6] suggested autosomal recessive inheritance in some families. Shah and Kinare [7] reviewed 1167 autopsies with congenital heart diseases and found only six cases of polysplenia of which three died in the neonatal period, two died between 2 and 5 years of age, and one died at the age of 17. The sample is not representative of the true incidence of the condition in general population, because the sample is of patients with congenital heart disease only. Left thoracic isomerism, situs ambiguus and azygous return of the inferior vena cava are all highly suggestive of the syndrome [8], but there are also other anatomical features. Peoples et al. reviewed 146 cases of polysplenia in 1983, 105 cases were from the literature and in 41 cases the autopsy was done by the authors. The paper suggested that most of the patients with polysplenia die before the age of 5 years. The summary of anomalies showed 58% with bilateral bilobed lungs, 56% heterotaxia, 47% bilateral superior vena cava, 65% azygous continuation of the inferior vena cava, 39% partial anomalous pulmonary venous connection, 63% ostium premium defect, and 63% ventricular septal defect
J.A. Al-Koteesh et al. / European Journal of Radiology Extra 52 (2004) 79–83
81
Fig. 2. Contrast CT scan of the upper abdomen showing (a) midline, centrally located liver, (b) inflamed centrally located gall bladder and (c) multiple splenuli in the left side of the abdomen.
among other anomalies; in their review there was no mentioning of renal cell carcinoma [4]. Our patient had abnormal position of the abdominal viscera, midline liver and gall bladder, left-sided caecum and appendix, multiple left-sided spleens, dextrocardia, evidence of the azygous arch, enlargement of the azygous vein and double inferior vena cava below the level of the renal vein. Though other malignancies have been reported with situs inversus and polysplenia syndrome, like Hodgkin’s disease [9], stomach, lung, liver and colo-rectal cancers among
others, they are not considered premalignant conditions [1]. Renal cell carcinoma has been reported with polysplenia initially in 1982, and in 1985 a second case was reported [3]. In both polysplenia cases the cancerous kidney was on the same side of the abnormal spleen, with multiple splenuli, like in our case (Table 1). All three patients reported were males, ages 49–68 years. Our case was discovered incidentally, while one presented with abnormal lung shadow, and the other with right flank mass and haematuria. Two had no evidence of distant metastasis including our case, while one had lung metastasis. Two had nephrectomies, and none of the
Table 1 Comparison between the cases reported with polysplenia and renal tumours
Age of patient at presentation Gender Situs Site of tumour Spleen position Relation between site of tumour and spleen Main presentation Treatment Distant metastasis
Our case
Hirohata et al. 1982, case 1
Hirohata et al. 1985, case 2
68 Male Polysplenia Left Left multiple Same side Incidental finding Nephrectomy No
49 Male Polysplenia Right Right multiple Same side Right flank mass and haematuria Nephrectomy No
52 Male Polysplenia Left Left multiple Same side Abnormal chest X-ray (metastasis) Embolization of the left renal artery Lungs
82
J.A. Al-Koteesh et al. / European Journal of Radiology Extra 52 (2004) 79–83
Fig. 3. Contrast CT scan of the abdomen showing a soft tissue mass to the left of the aorta, suspected to be enlarged lymph node.
Fig. 4. Coronal T2 weighted non-contrast MRI scan showing a soft tissue mass in the left para-aortic area compressing and partially obstructing the left IVC. Absent left kidney and spleen is from previous surgery.
J.A. Al-Koteesh et al. / European Journal of Radiology Extra 52 (2004) 79–83
cases reported mentioned difficulties intra-operatively due to the abnormal anatomy. During follow-up 17 months post-nephrectomy, residual splenic tissue mimicked metastatic lymph nodes in our patients, and it had to be investigated further. In the literature, splenosis has been reported to mimic recurrence in renal cell carcinoma [10]. Renal cell carcinoma is one of the common adulthood malignancies, accounting for 2–3% of adult cancers, with male:female ratio of 2:1. Most tumours present between the ages 60–75 years [11]. So, this leads us to the question, if this is an incidental finding to have renal cell carcinoma in polysplenia patients, as this cancer is common. There is some specific feature that can be noticed from those cases, that all are male and all had the tumour on the same side of the abnormal spleen. In the cases reported there have been no genetic studies to try to link the two conditions together. But still three cases are not enough to draw confident conclusions.
[2] [3]
[4] [5]
[6]
[7] [8]
[9] [10]
References [11] [1] Iwamura T, Shibata N, Haraguchi Y, Hisashi Y, Nishikawa T, Yamada H, et al. Synchronous double cancer of the stomach and rectum with
83
situs inversus totalis and polysplenia syndrome. J Clin Gastroenterol 2001;33(2):148–53. Winer-Muram HT. Adult presentation of heterotaxic syndromes and related complexes. J Thorac Imaging 1995;10:43–57. Hirohata S, Isobe H, Mitamura T, Yoshinoya S, Miyamoto T, Motoki T, et al. Situs ambiguus with polysplenia complicated by renal adenocarcinoma. Arch Intern Med 1985;145:1134–337. Peoples WM, Moller JH, Edwards JE. Polysplenia: a review of 146 cases. Pediatr Cardiol 1983;4:129–37. Rose V, Izukawa T, Moes CA. Syndromes of asplenia and polysplenia: a review of cardiac and non cardiac malformations in 60 cases with special reference to diagnosis and prognosis. Br Heart J 1975;37:840–52. Arnold GL, Bixler D, Girod D. Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family. Am J Med Genet 1983;16:35–42. Shah LS, Kinare SG. Asplenia polysplenia syndrome—a study of 28 cases. Indian Heart J 1987;39(6):64–9. Winer-Muram HT, Tonkin IL, Gold RE. Polysplenia syndrome in the asymptomatic adult: computed tomography evaluation. J Thorac Imaging 1991;6(2):69–71. Curran JG, Ryan MJ. Hodgkin’s disease in a patient with polysplenia. Br J Radiol 1987;60:929–31. Pumberger W, Wiesbauer P, Leitha Th. Splenosis mimicking tumour recurrence in renal cell carcinoma: detection on selective spleen scintigraphy. J Pediatr Surg 2001;36(7):1089–91. Packard R. Tumours of the upper urinary tract. In: Cuschieri A, Steele RJC, Moossa AR, editors. Essential surgical practice, higher surgical training in general surgery. London: Arnold; 2002. p. 1239.
A case report of polysplenia with renal cell carcinoma Jamal A. Al-Koteesha , Hazem Al-Momania , Yazan A.J. Masannatb,∗ , Hugh J.R. Evansa a
Prince Philip Hospital, Llanelli, Wales, UK Morriston Hospital, Swansea, Wales, UK
b
Received 3 June 2004; received in revised form 17 August 2004; accepted 3 September 2004
Abstract Polysplenia is a well-known condition in which there is malposition and malformations of the abdominal and chest organs. We present a case of renal cell carcinoma in a 68-year-old patient with polysplenia syndrome, found incidentally when he was investigated for abdominal pain. This is the third case reported with this association of renal cell carcinoma and polysplenia. © 2004 Elsevier Ireland Ltd. All rights reserved. Keywords: Polysplenia; Situs ambiguus; Renal cell carcinoma
1. Introduction The normal arrangement and relation of body organs is called situs solitus, while situs inversus totalis is the complete mirror image of thoracic and abdominal viscera, and anything in between is called heterotaxia [1]. So, heterotaxia or situs ambiguus is the abnormal arrangement of organs and major blood vessels, in which the relation of atria and viscera is inconsistent. Isomerism is a form of heterotaxia to describe symmetric morphology, which is mainly divided into right and left isomerism. Right isomerism or asplenia syndrome is a rare association of agenesis of the spleen with congenital cyanotic heart disease, with malposition and nondevelopment of the abdominal viscera, while left isomerism or polysplenia syndrome is a type of situs ambiguus characterized by bilateral left sidedness [2]. The first report of polysplenia syndrome with renal tumour in an adult was in 1982 [3], and since then only one other case had been reported up to our knowledge. This report describes a third case of polysplenia with renal cell carcinoma, ∗ Corresponding author. Present address: 25 Pant Bryn Isaf, Llwynhendy, Llanelli, Carmarthenshire, SA14 9EQ, Wales, UK. Tel.: +44 1792 702222x437/1554 785194 (Home)/7821 001983 (Mobile); fax: +44 1554 783150. E-mail addresses: [email protected], [email protected] (Y.A.J. Masannat).
1571-4675/$ – see front matter © 2004 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.ejrex.2004.09.003
and compares the findings with the previously reported cases demonstrating similar features in all three cases.
2. Case report A 68-year-old gentleman who has a known case of dextrocardia since childhood, presented to the casualty department with 2-day history of abdominal pain. The pain was colicky in nature and generalized initially, which got localized to the epigastric region later. Initial bloods revealed leukocytosis of 16,000 while abdominal and chest X-rays only showed dextrocardia. Abdominal ultrasound scan revealed a centrally located and inflamed gall bladder and a solid mass arising from the left kidney that could be malignant. Urgent CT scan of the chest and abdomen was done (Figs. 1 and 2), which not only confirmed the ultrasound scan findings, but also showed dextrocardia, right-sided aortic arch and descending aorta, evidence of prominent azygous arch, enlargement of the azygous veins in the posterior mediastinum and the retro-peritoneum, midline liver and gall bladder, and multiple spleens on the left side of the abdomen. All findings are consistent with the diagnosis of polysplenia, acute cholecystitis and left renal tumour. Laparatomy showed a centrally located gangrenous gall bladder with localized perforation, lobulated centrally
80
J.A. Al-Koteesh et al. / European Journal of Radiology Extra 52 (2004) 79–83
Fig. 1. Contrast CT scan of the abdomen, showing (a) inhemogenous solid soft tissue mass arising from the left kidney and (b) centrally located inflamed gall bladder.
located liver, multiple left-sided spleens, bulky left-sided renal tumour and left-sided caecum and appendix. Cholecystectomy, left radical nephrectomy and splenectomy were done. Histology report showed acute chronic cholecystitis, chromophil or papillary renal cell carcinoma grade 2 (T3, N0 on TNM classification) and spleen and spleniculus. The postoperative period was uneventful, and the patient was allowed to go home. Seventeen months after the operation the patient had nonspecific abdominal pain, so he was investigated with ultrasound scan initially, which was not conclusive. CT scan of the abdomen showed a 5 cm low-density mass to the left of the aorta, at the level of the left renal hilum (Fig. 3), which was suspected to be a metastatic lymph node from the previous tumour, or residual splenic tissue. Abdominal MRI (Fig. 4) was done which showed that the patient had two inferior vena cavae below the level of the renal veins, and showed the soft tissue mass. The mass had mixed signal intensity with cystic and solid components, compressing the left inferior vena cava, but not obstructing it. Laparatomy revealed only dense adhesions, splenic tissue and no evidence of recurrence. Three years following the first operation the patient is alive and well with no evidence of recurrence.
3. Discussion Polysplenia is a complex syndrome with variable anatomical features [4]. The vast majority of polysplenia cases are sporadic without any certain aetiology [5], though a paper by Arnold et al. [6] suggested autosomal recessive inheritance in some families. Shah and Kinare [7] reviewed 1167 autopsies with congenital heart diseases and found only six cases of polysplenia of which three died in the neonatal period, two died between 2 and 5 years of age, and one died at the age of 17. The sample is not representative of the true incidence of the condition in general population, because the sample is of patients with congenital heart disease only. Left thoracic isomerism, situs ambiguus and azygous return of the inferior vena cava are all highly suggestive of the syndrome [8], but there are also other anatomical features. Peoples et al. reviewed 146 cases of polysplenia in 1983, 105 cases were from the literature and in 41 cases the autopsy was done by the authors. The paper suggested that most of the patients with polysplenia die before the age of 5 years. The summary of anomalies showed 58% with bilateral bilobed lungs, 56% heterotaxia, 47% bilateral superior vena cava, 65% azygous continuation of the inferior vena cava, 39% partial anomalous pulmonary venous connection, 63% ostium premium defect, and 63% ventricular septal defect
J.A. Al-Koteesh et al. / European Journal of Radiology Extra 52 (2004) 79–83
81
Fig. 2. Contrast CT scan of the upper abdomen showing (a) midline, centrally located liver, (b) inflamed centrally located gall bladder and (c) multiple splenuli in the left side of the abdomen.
among other anomalies; in their review there was no mentioning of renal cell carcinoma [4]. Our patient had abnormal position of the abdominal viscera, midline liver and gall bladder, left-sided caecum and appendix, multiple left-sided spleens, dextrocardia, evidence of the azygous arch, enlargement of the azygous vein and double inferior vena cava below the level of the renal vein. Though other malignancies have been reported with situs inversus and polysplenia syndrome, like Hodgkin’s disease [9], stomach, lung, liver and colo-rectal cancers among
others, they are not considered premalignant conditions [1]. Renal cell carcinoma has been reported with polysplenia initially in 1982, and in 1985 a second case was reported [3]. In both polysplenia cases the cancerous kidney was on the same side of the abnormal spleen, with multiple splenuli, like in our case (Table 1). All three patients reported were males, ages 49–68 years. Our case was discovered incidentally, while one presented with abnormal lung shadow, and the other with right flank mass and haematuria. Two had no evidence of distant metastasis including our case, while one had lung metastasis. Two had nephrectomies, and none of the
Table 1 Comparison between the cases reported with polysplenia and renal tumours
Age of patient at presentation Gender Situs Site of tumour Spleen position Relation between site of tumour and spleen Main presentation Treatment Distant metastasis
Our case
Hirohata et al. 1982, case 1
Hirohata et al. 1985, case 2
68 Male Polysplenia Left Left multiple Same side Incidental finding Nephrectomy No
49 Male Polysplenia Right Right multiple Same side Right flank mass and haematuria Nephrectomy No
52 Male Polysplenia Left Left multiple Same side Abnormal chest X-ray (metastasis) Embolization of the left renal artery Lungs
82
J.A. Al-Koteesh et al. / European Journal of Radiology Extra 52 (2004) 79–83
Fig. 3. Contrast CT scan of the abdomen showing a soft tissue mass to the left of the aorta, suspected to be enlarged lymph node.
Fig. 4. Coronal T2 weighted non-contrast MRI scan showing a soft tissue mass in the left para-aortic area compressing and partially obstructing the left IVC. Absent left kidney and spleen is from previous surgery.
J.A. Al-Koteesh et al. / European Journal of Radiology Extra 52 (2004) 79–83
cases reported mentioned difficulties intra-operatively due to the abnormal anatomy. During follow-up 17 months post-nephrectomy, residual splenic tissue mimicked metastatic lymph nodes in our patients, and it had to be investigated further. In the literature, splenosis has been reported to mimic recurrence in renal cell carcinoma [10]. Renal cell carcinoma is one of the common adulthood malignancies, accounting for 2–3% of adult cancers, with male:female ratio of 2:1. Most tumours present between the ages 60–75 years [11]. So, this leads us to the question, if this is an incidental finding to have renal cell carcinoma in polysplenia patients, as this cancer is common. There is some specific feature that can be noticed from those cases, that all are male and all had the tumour on the same side of the abnormal spleen. In the cases reported there have been no genetic studies to try to link the two conditions together. But still three cases are not enough to draw confident conclusions.
[2] [3]
[4] [5]
[6]
[7] [8]
[9] [10]
References [11] [1] Iwamura T, Shibata N, Haraguchi Y, Hisashi Y, Nishikawa T, Yamada H, et al. Synchronous double cancer of the stomach and rectum with
83
situs inversus totalis and polysplenia syndrome. J Clin Gastroenterol 2001;33(2):148–53. Winer-Muram HT. Adult presentation of heterotaxic syndromes and related complexes. J Thorac Imaging 1995;10:43–57. Hirohata S, Isobe H, Mitamura T, Yoshinoya S, Miyamoto T, Motoki T, et al. Situs ambiguus with polysplenia complicated by renal adenocarcinoma. Arch Intern Med 1985;145:1134–337. Peoples WM, Moller JH, Edwards JE. Polysplenia: a review of 146 cases. Pediatr Cardiol 1983;4:129–37. Rose V, Izukawa T, Moes CA. Syndromes of asplenia and polysplenia: a review of cardiac and non cardiac malformations in 60 cases with special reference to diagnosis and prognosis. Br Heart J 1975;37:840–52. Arnold GL, Bixler D, Girod D. Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family. Am J Med Genet 1983;16:35–42. Shah LS, Kinare SG. Asplenia polysplenia syndrome—a study of 28 cases. Indian Heart J 1987;39(6):64–9. Winer-Muram HT, Tonkin IL, Gold RE. Polysplenia syndrome in the asymptomatic adult: computed tomography evaluation. J Thorac Imaging 1991;6(2):69–71. Curran JG, Ryan MJ. Hodgkin’s disease in a patient with polysplenia. Br J Radiol 1987;60:929–31. Pumberger W, Wiesbauer P, Leitha Th. Splenosis mimicking tumour recurrence in renal cell carcinoma: detection on selective spleen scintigraphy. J Pediatr Surg 2001;36(7):1089–91. Packard R. Tumours of the upper urinary tract. In: Cuschieri A, Steele RJC, Moossa AR, editors. Essential surgical practice, higher surgical training in general surgery. London: Arnold; 2002. p. 1239.