Tag Archive for: treatment

Posts

Splenogonadal Fusion: A Rare Congenital Anomaly in Children

February 16, 2012/by admin Z.9

This report presents a case of splenogonadal fusion in a 13-year-old boy and reviews the relevant literature.

Authors: Osman Zeki Karakus¹, Mustafa Ozcetin², Fikret Erdemir³

1. Maternity and Children’s Hospital, Department of Pediatric Surgery, Tokat, Turkey.

2. Zonguldak Karaelmas University , School of Medicine, Department of Pediatrics, Zonguldak, Turkey.

3. Gaziosmanpasa University, School of Medicine, Department of Urology, Tokat, Turkey

Corresponding Author: Mustafa OZCETIN, Zonguldak Karaelmas University , School of Medicine, Department of Paediatrics, Zonguldak, Turkey. E-mail: [email protected]

Abstract

Splenogonadal fusion is a rare, benign, congenital anomaly characterized by fusion of the spleen and a gonad; it is frequently associated with other organ abnormalities. Approximately 175 cases of splenogonadal fusion have been reported. The diagnosis is rarely suspected preoperatively. Splenogonadal fusion is most commonly an incidental finding during inguinal exploration for an undescended testis or hernia. We report a 13-year-old boy who was admitted to our clinic with symptoms of an undescended testis and diagnosed with splenogonadal fusion laparoscopically, and discuss the relevant literature.

Introduction

The prevalence of congenital anomalies is 23.9~32.4 per 1000 births (1). According to the European Surveillance of Congenital Anomalies (EUROCAT), congenital heart defects are the most common non-chromosomal subgroup, at 6.5 per 1000 births, followed by limb defects (3.8 per 1000), urinary system anomalies (3.1 per 1000), and nervous system defects (2.3 per 1000) (2). Splenogonadal fusion is a rare congenital anomaly. Approximately 175 cases of splenogonadal fusion have been reported since Bostroem first described this condition in 1883. Most of the cases have been reported with cryptorchidism. Splenogonadal fusion is infrequently diagnosed preoperatively because of its rarity. It was reported that orchiectomy is done unnecessarily in these cases (3). Therefore, a correct diagnosis of splenogonadal fusion using a laparoscopic approach can save the affected gonad.

Case Report

A 13-year-old boy was admitted to our clinic with symptoms of an undescended left testis and intermittent swelling in the left scrotal region. On physical examination, while the right testis was normal in size and location in the scrotum, the left testis was palpated in the mid-inguinal region. In addition, a left inguinal hernia was detected with the Valsalva maneuver. No other physical abnormalities were detected in a systemic evaluation. Routine hematologic and biochemical analyses were normal. With the diagnosis of an undescended testis, a left orchiopexy was planned via a standard inguinal incision. Left inguinal exploration revealed that the left testis was in the inguinal canal. The associated hernia sac was dissected and repaired. At this point, a fleshy, smooth, reddish-brown vascular structure was seen on the superior part of the testis lying in the abdominal cavity (Figure 1).

Figure 1. The vascular shaped structure and testis are seen

This structure was closely related to the spermatic cord and vessels. At this step, a laparoscopy was performed. The structure was traced to the lower pole of the spleen and excised completely laparoscopically (Figure 2).

Figure 2. The vascular shaped structure which connected to the spleen

The vascular structure was approximately 15 cm long and 1 cm wide. The procedure was concluded with a left orchiopexy. Histopathologically, the specimen was normal splenic tissue (Figure 3).

Figure 3: Pathological appearance of the dissected tissue (H&E, 10x)

The patient was discharged 24 hours postoperatively, with no complications.

Discussion

Some congenital anomalies of the spleen are common, such as splenic lobulation and accessory spleens, while other conditions are rare, such as wandering spleen, polysplenia, and splenogonadal fusion (4). Splenogonadal fusion is a rare congenital anomaly characterized by fusion of the spleen and a gonad. Although the age of reported cases ranges from stillborn to 81 years, approximately half of the cases presented in patients younger than 10 years and 82% in those younger than 30 years (5). In 1956, Putschar and Manion reviewed 30 cases and categorized this anomaly into continuous and discontinuous types (6). The discontinuous type lacks any anatomic connection between the gonad and spleen. By contrast, as in our case, the continuous type involves a direct anatomical connection, between the spleen and gonad, by a cord that may be totally splenic, beaded with multiple splenic nodules, or composed of fibrous tissue. Both types are equally frequent. However, the continuous type carries a 5-fold higher risk of associated anomalies than the discontinuous type, such as peromelia (absence or malformation of the limbs), micrognathia, cardiac defects, cleft palate, anal anomalies, craniosynostosis, spina bifida, Möbius syndrome, microgastria, thoracopagus, and osteogenesis imperfecta (5,6). One third of the cases reviewed by Gouw et al. were associated with one or more congenital defects, excluding congenital inguinal hernia or cryptorchidism (7). In our case, no organ anomaly except cryptorchidism was detected.

Although the aetiology of this condition is not clear, several mechanisms have been proposed to explain it. All of the theories are based on the close proximity of the left gonadal ridge and splenic anlage between the 5th and 8th weeks of gestation. This explains why splenogonadal fusion is almost always seen on the left. During this period, several groups of cells derived from the coelomic epithelium and mesenchyme of the mesogastrium aggregate to form the splenic anlage in the dorsal mesogastrium. This occurs at approximately the same time as the gonadal ridge is formed between the dorsal mesogastrium and mesonephros on either side. During weeks 6 and 7, rotation of the stomach to the left and growth of the dorsal mesogastrium translocate the spleen to the left side of the abdominal cavity, bringing it into close proximity with the gonadal ridge (6). In addition, it was proposed that cryptorchidism and continuous splenogonadal fusion are caused by abnormal development of the cranial suspensory ligaments of the testis and failure of their involution (8).

Splenogonadal fusion is most commonly seen incidentally during inguinal exploration for cryptorchidism, a hernia, or a hydrocele. Cryptorchidism is the genital anomaly seen most commonly in splenogonadal fusion. In a review of 111 cases with splenogonadal fusion, cryptorchidism was reported in 31% (9). The most common complaint is testicular swelling. Another presentation is acute painful scrotal swelling secondary to swelling of the ectopic splenic tissue as a consequence of various processes, such as malaria, leukaemia, mononucleosis, and traumatic rupture of the ectopic spleen (5, 10). Splenogonadal fusion is seldom diagnosed or suspected preoperatively. Almost one in six cases of splenogonadal fusion has been diagnosed at autopsy (3). When suspected clinically, technetium isotope scanning is used to detect accessory splenic tissue (11). Computed tomography (CT) and ultrasonography have also been used for the diagnosis (12). In most cases, the splenic tissue can be dissected off the gonadal structures easily; if there are doubts concerning the nature of the swelling, an intraoperative frozen section may confirm the diagnosis. Diagnostic and operative laparoscopic approaches are often indicated in children for cryptorchidism, appendectomy, herniorrhaphy, and an examination of the abdominal organs. In the continuous type of splenogonadal fusion there is a direct anatomical connection between the spleen and gonad through a cord of splenic tissue. In this context, a few authors have reported that diagnostic laparoscopy can be performed via an open umbilical approach. With this approach, vascular connections, the vas deferens, and other anomalies can be seen clearly. Since laparoscopy is helpful in diagnosing this rare condition, and for planned surgical treatment, as in our case, a few cases of splenogonadal fusion have been diagnosed and managed with laparoscopy (13, 14). A laparoscopic approach prevents the loss of time due to secondary operations and frozen section examination or radiological imaging methods.

Another problem with this anomaly is unnecessary orchiectomy. Indeed, patients can undergo an unnecessary orchiectomy because a primary testicular neoplasm is suspected. In one study, 37% of the patients with splenogonadal fusion underwent an unnecessary orchiectomy for a suspected primary testicular neoplasm (3).

In summary, although extremely rare, splenogonadal fusion should be considered during the evaluation of an undescended testis.

References

1- Dastgiri S, Stone DH, Le-Ha C, Gilmour WH. Prevalence and secular trend of congenital anomalies in Glasgow, UK. Arch Dis Child 2002;86:257-63.

2- Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in europe. Adv Exp Med Biol 2010;686:349-64.

3- Karaman MI, Gonzales ET. Splenogonadal fusion: report of 2 cases and review of the literature. J Urol 1996;155:309-11

4- Varga I, Galfiova P, Adamkov M, Danisovic L, Polak S, Kubikova E, Galbavy S. Congenital anomalies of the spleen from an embryological point of view. Med Sci Monit 2009;15:269-76.

5- Khairat AB, İsmail AM. Splenogonadal fusion: Case presentation and literature review. J Pediatr Surg 2005;40:1357-60.

6- Putschar WGJ, Manion WC. Splenic-gonadal fusion. Amer J Pathol 1956;32:15-33.

7- Gouw AS, Elema JD, Bink-Boelkens MT. The spectrum of splenogonadal fusion. Case report and review of 84 reported cases. Eur J Pediatr 1985;144:316-33.

8- Kaya C, Koca O, Karaman MI, Radmayr C. Splenogonadal fusion in a 13-year-old boy with contralateral displaced intraabdominal testis. Urology 2010;75:173-5.

9- Cortes D, Throup JM, Visfeldt J. The pathogenesis of cryptorchidisim and Splenogonadal fusion: A new hypothesis. Br J Urol 1996;77:285-90.

10- Andrews RW, Copeland DD, Fried FA. Splenogonadal fusion. J Urol 1985;133:1052-3.

11- Guarin U, Dumitrieva Z, Ashley SJ. Splenogonadal fusion—rare congenital anomaly demonstrated by 99mTc-sulphur colloid imaging: case report. J Nucl Med 1975;16:922-4.

12- Li YH. Preoperative detection of splenogonadal fusion by CT. Surg Radiol Anat 2009;31:733-5.

13- Papparella A. Laparoscopy in the Diagnosis and Management of Splenogonadal Fusion: Case Report. Eur J Pediatr Surg 2011;21:203-4.

14- Braga LH, Braga MM, Dias MA. Laparoscopic diagnosis and treatment of splenogonadal fusion associated with intra-abdominal cryptorchidism in a child. Pediatr Surg Int 1999 ;15:465-6.

Date added to bjui.org: 16/02/2012

DOI: 10.1002/BJUIw-2011-097-web

Complete remission of rapidly-progressing, unilateral, primary adrenal diffuse large B-cell lymphoma with surgery and rituximab-chop chemotherapy

February 6, 2012/by admin Z.9

We report a patient with a massive adrenal tumor treated with early surgical intervention due to concern for that an adrenocortical carcinoma was present.

Authors: Michael J. Lyons¹, Anthony J. Kubat¹, Stephen N. Huang¹, Richard J. Kahnoski^1,2,

Brian R. Lane^1,2,3

1. Spectrum Health Hospital System, Grand Rapids, MI

2. Michigan State University College of Human Medicine, Grand Rapids, MI

3. Van Andel Research Institute, Grand Rapids, MI

Corresponding Author: Brian R. Lane, M.D., Ph.D. Urology Division, Spectrum Health Medical Group, 4069 Lake Drive, Suite 313, Grand Rapids, MI 49546. Tel: 616-267-7333; E-mail: [email protected]

Abstract

We report a patient with a massive adrenal tumor treated with early surgical intervention due to concern for that an adrenocortical carcinoma was present. Although initial abdominal ultrasound for abdominal pain detected only a large simple renal cyst, CT scan obtained one1 week later identified the 11 cm left renal cyst and a 13 cm left adrenal tumor containing solid and cystic components. About 1Approximately one week later, pathologic analysis of the adrenalectomy specimen revealed a 19 cm lymphoma expressing CD20, CD45 and vimentin. For stage 1A diffuse large B cell lymphoma, she the patient received 4 cycles of rituximab, cyclophosphamide, doxorubicin, vincristine and prednisone (R-CHOP) and remains disease-free two2 years after diagnosis. Despite the rapid initial growth of this diffuse large B-cell lymphoma involving one adrenal gland, an excellent outcome has been achieved.

Case Report

The patient is a 54 year old female that who presented with a 3-day history of left lower abdominal pain radiating intermittently to the left flank. Past medical history includeds hypothyroidism and JAK-2-negative essential thrombocythemia. Physical examination was unremarkable, except for mild left lower quadrant and left costovertebral angle tenderness with palpation. Urinalysis revealed microscopic hematuria and urine culture was negative. KUB revealed no urinary calcifications. Urinary cytology and cystoscopy were negative. Over the ensuing week, the urinary symptoms and flank pain did not resolve and the patient developed a low-grade temperature. Renal ultrasound was performed to evaluateas an investigaiton for pyelonephritis, a repeat urine culture was obtained, and she was started on empirical antibiotics. Abdominal ultrasound showed the left kidney to contain two simple cysts, including an 11.0 cm exophytic mid-pole cyst and 2.4 cm lower pole cyst, without evidence of hydronephrosis or calcification. The right kidney and remainder of the abdomen was unremarkable.

The patient presented to the emergency department with worseneningd left-sided abdominal pain one1 week later. Her white blood cell count was 9,000 and her platelet count was 659,000; other laboratory studies results were within normal limits. Computed tomography with IV contrast revealed a large complex solid and cystic mass in the left retroperitoneal space measuring 13 x 10 x 7 cm. Coronal CT imaging showed that the adrenal tumor displaced the left kidney, which contained a similarly-sized simple renal cyst (Figure 1).

Figure 1. Coronal CT imaging showing the adrenal tumor

No retroperitoneal lymph nodes or visceral metastases were identified and subsequent chest x-ray was normal. At consultation with a urologic oncologist, she reported no history suspicious for a functional adrenal tumor, denying uncontrolled blood pressure, new hair growth or other features of Cushing’s syndrome. Re-examination of the ultrasound images failed to demonstrate concern forany evidence of a suprarenal lesion. Functional work-up was pursued with serum potassium, urinary cortisol, and plasma and urinary metanephrines. After this negative functional evaluation was completed, the patient underwent open adrenalectomy and renal cyst decortication.

Surgery at three weeks after initial presentation was uneventful and she was discharged after an uncomplicated four4 day hospital stay. Frozen section analysis of a 19 cm adrenal mass containing a 13.5 cm multilobular, tan-pink, firm mass and an 11 cm unilocular cystic component, revealed concern forpossible lymphoma, rather than adrenocortical carcinoma. Immunohistochemical staining for CD-3, CD-20, CD-45, CD-10, CD-5, CD-30, Ki-67, pancytokeratin (cam 5.2/AE1/AE3), vimentin, ALK-1 and inhibin, for aas work-up of for lymphoma and differentiation from adrenocortical carcinoma, was obtained. Pathologic analysis showed large CD-20 and CD-45 positive B cells with irregular nuclei, prominent nucleoli, and scant cytoplasm. The normal architecture of the adrenal gland was essentially obliterated by sheets of large cells, without a discernable growth pattern (Figure 2).

Figure 2. The normal architecture of the adrenal gland was essentially obliterated by sheets of large cells, without a discernable growth pattern.

Large areas of necrosis were interspaced in the sheets of CD-20 positive cells (Figure 3).

Figure 3. Large areas of necrosis were interspaced in the sheets of CD-20 positive cells.

As is typical of lymphoma, the cells tend to disaggregate, and single cells are observed. A number of cells have a plasmacytoid appearance and rare multinucleated cells are also present. The chromatin is open to vesicular, and many nuclei are lobulated. Fibrous bands, as seen in an adrenocortical carcinoma, are absent, as is the typical trabecular growth pattern with formation of sinusoids. Immunohistochemical staining revealed the cells are negative for inhibin and pancytokeratin (cytokeratin AE1/AE3/cam 5.2); pancytokeratin is variably expressed in adrenocortical carcinoma, and inhibin can be positive.1 Vimentin was positive, although this is a somewhat non-specific finding. Staining results for CD-10, CD-30, and ALK-1 were negative. CD-3 and CD-5 were positive in background T cells. Ki-67 revealed a proliferation index of approximately 90%. Fluorescent in situ hybridization for an 8;14 translocation of Burkitt’s lymphoma was negative. A diagnosis of diffuse large B cell lymphoma (DLBCL), not otherwise specified (WHO 2010), was rendered, and reported to the operating surgeon.

Referral to medical oncology was made and staging was completed with whole body PET-CT and bone marrow biopsy, both of which were negative. For stage 1A DLBCL, she received 4 cycles of rituximab, cyclophosphamide, doxorubicin, vincristine and prednisone (R-CHOP) and tolerated this regimen without dose reduction or treatment interruption. Postoperative CT imaging showed no evidence of disease 2 years after diagnosis (Figure 4) and the patient continues to be disease-free at most recent follow-up.

Figure 4. Postoperative CT imaging showed no evidence of disease 2 years after diagnosis.

Discussion

Primary adrenal lymphoma is a rare entity with fewer than 120 cases reported in the worldwide literature.2-7 Prognosis is generally poor with most patients succumbing to disease within one year of diagnosis.2 The present case has been associated with an unexpectedly good prognosis and several elements deserve attention and comment. First, presentation with a huge, symptomatic, and rapidly-progressing adrenal mass should always suggest the diagnosis of adrenocortical carcinoma, despite the final pathologic outcome in the present case.8-10 When an adrenal tumor is suspected, abdominal ultrasound may not be the best imaging modality. Radiographic characterization of adrenal tumors can be performed with dedicated adrenal-protocol CT or MR imaging, which allow the differentiation of adenomas and myelolipomas from more concerning lesions.8-10 Second, imaging should be done in conjunction with laboratory studies to evaluate for a functional adrenal tumor, such as pheochromocytoma or adrenocortical carcinoma.8-10 Identification of a catecholamine-producing tumor prior to intervention can be a life-saving maneuver.10 In the present case, the rapid growth of a non-functional tumor was indicative of a lymphoma, but about 50% of adrenocortical carcinomas are non-functional as well.10 Third, consideration for adrenal biopsy was made, but this was not performed for fear of tumor seeding or sampling error given the large cystic component of the tumor. 10-12 Ultimately, given the diagnosis of DLBCL, surgery may have been omitted if adrenal biopsy revealed this diagnosis, but the excellent outcome here suggests that adrenalectomy may have been of therapeutic benefit. Fourth, the coexistence of essential thrombocythemia and DLBCL is unusual, and literature review confirms scant correlation between these entities. Since the lymphoma in this case report arises from the B-lymphocyte lineage and essential thrombocythemia arises from the distinctly separate megakaryocyte lineage, the likelihood of a unifying hematopoietic disorder is low, and chance could explain a patient acquiring both diagnoses independently.

Lymphoma of the adrenal gland accounts for 25% of non-Hodgkin’s lymphoma and typically presents as secondary involvement with bilateral masses. Primary lymphoma of the adrenal gland represents less than 1% of non-Hodgkin’s lymphomas and occurs unilaterally in between 30 and 50% of cases.2,10 Secondary involvement of the adrenal gland by lymphoma is generally associated with widespread disseminated disease. Patients with adrenal lymphoma typically present with a variety of complaints such as fatigue, weight loss, fever, or abdominal pain (as in the present case). Patients may also present with endocrine abnormalities related to adrenal insufficiency. In a review of 55 cases of primary adrenal lymphoma, the median age was 68 years old with male:female ratio of 2.2:1.2 Poor prognostic indicators in patients with adrenal lymphoma include age, high LDH, bilateral disease, secondary involvement (vs. primary), and adrenal insufficiency.2 Most primary adrenal lymphomas are DLBCL’s, as in the present case. Mozos and colleagues reported that lymphomas with non-germinal B-cell genotype and containing BCL-6 rearrangement are more commonly aggressive and with significant tumor bulk.7 Despite the large cystic component present radiographically and pathologically, no carcinoma elements were present in this pure lymphoma (Figure B), and despite the large size of this DLBCL, the outcome thus far has been remarkable.

Chemotherapy remains the central antineoplastic approach for lymphoma of all types. Various regimens have been used for various lymphomas involving the adrenal gland, including R-CHOP, CHOP, CVP (cyclophosphamide, vincristine, prednisone), and MACOP-B (addition of methotrexate and bleomycin.) and treatment should be tailored to the histologic subtype.3 R-CHOP appears to be a highly active regimen for DLBCL and has been associated with a statistically superior survival benefit when compared to CHOP alone.5 Chemotherapeutic intervention with R-CHOP has resulted in complete remission in a few reported cases, including one patient who did not receive surgery or radiotherapy.3,13,14 In the 3 reported cases of complete remission of primary adrenal DLBCL, all patients had bilateral lymphoma and received between 3 and 6 cycles of R-CHOP.2,13,14 The importance of surgery and/or radiation for local control has not been established at present.2 The literature would suggest a more limited role for radiation therapy, although complete remission was achieved in one patient treated with radiation for a local recurrence after completing chemotherapy.4 Our patient has achieved complete remission without adrenal insufficiency two years after surgery and 4 cycles of R-CHOP, suggesting that this is an effective approach.

Conclusion

We present the first reported complete remission of unilateral primary adrenal DLBCL. Based on the current literature and results of this case, R-CHOP chemotherapy with or without adrenalectomy is the most promising therapeutic strategy for DLBCL involving the adrenal gland.

References

1. Fetsch PA, Powers CN, Zakowski MF, Abati A. Anti-alpha-inhibin: marker of choice for the consistent distinction between adrenocortical carcinoma and renal cell carcinoma in fine-needle aspiration. Cancer 87(3):168-72, 1999

2. Ho CH, Chueh SC, Pu YS, Chen SC, Yu HJ, Huang KH. Primary Adrenal Lymphoma-A Rare Entity with Grave Prognosis. JTUA 4:168-172, 2009

3. Kim KM, Yoon DH, Lee SG, Lim SN, Sug LJ, Huh J, Suh C. A Case of Primary Diffuse Large B-Cell Lymphoma Achieving Complete Remission with Rituximab-CHOP Chemotherapy. J Korean Med Sci 24:525-528, 2009

4. Yoon JH, Lee YY, Park CG, Koe BH, Kim IS. A Case of Primary Adrenal Gland Lymphoma. The Korean Journal of Internal Medicine: 18:122-124, 2003

5. Coiffer B. Rituximab in Combination with CHOP Improves Survival in Elderly Patients with Aggressive Non-Hodgkin’s Lymphoma. Semin Oncol 29 (2 Suppl 6): 18-22, 2002

6. Spyroglou A, Schneider HJ, Mussack T, Reincke M, von Werder K, Beuschlein F. Primary Adrenal Lymphoma: 3 Case Reports with Different Outcomes. Exp Clin Endocrinol Diabetes 119: 208-13, 2011

7. Mozos A, Ye H, Chuang WY, Chu JS, Huang WT, Chen HK, Hsu YH, Bacon CM, Du MQ, Campo E, Chuang S. Most Primary Adrenal Lymphomas are Diffuse Large B-Cell Lymphomas with Non-Germinal Center B-Cell Phenotype, BCL6 Gene Rearrangement and Poor Prognosis. Modern Pathology 22; 1210-1217, 2009

8. Arnold DT, Blumhoff-Reed J, Burt K. Evaluation and Management of the Incidental Adrenal Mass. Proc (Baylor Med Cent) 16; 7-12, 2003

9. Mannelli M, Colagrande S, Valeri A, Parenti G.Incidental and metastatic adrenal masses. Semin Oncol. 37(6):649-61, 2010

10. Lack, E. Tumors of the Adrenal Glands and Extraadrenal Paraganglia. 2007 ARP Press, Silver Spring, Maryland.

11. Paulsen SD, Nghiem HV, Korobkin M, Caoili EM, Higgins EJ. Changing Role of Imaging-Guided Percutaneous Adrenal Masses: Evaluation of 50 Adrenal Biopsies. AJR 182; 1033-1037, 2004

12. Mazzaglia PJ, Monchik JM. Limited Value of Adrenal Biopsy in the Evaluation of Adrenal Neoplasm. Arch of Surg 144 (5);465-470, 2009

13. Shirao S, Kuroda H, Kida M, et al. [Effective combined modality therapy for a patient with primary adrenal lymphoma]. Rinsho Ketsueki 47:204-9, 2006.

14. Yang YL, Ting-ting Y, Wang Z, et al. Complete remission of primary bilateral adrenal lymphoma achieved by Rituximab-CHOP chemotherapy. Cetnral Eur J Med 6(6):778-782, 2011.

Date added to bjui.org: 06/02/2012

DOI: 10.1002/BJUIw-2011-119-web