Extramedullary hematopoiesis presenting as a solitary renal mass and mimicking a malignant tumor: A rare case report

Basharat Mubeen; Iqbal M Lone; Arif Hameed; Annu Charak; Imza Feroz

doi:10.4103/2321-4848.123035

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CASE REPORT

Year : 2013 | Volume : 1 | Issue : 2 | Page : 159-162

Extramedullary hematopoiesis presenting as a solitary renal mass and mimicking a malignant tumor: A rare case report

Basharat Mubeen¹, Iqbal M Lone¹, Arif Hameed², Annu Charak¹, Imza Feroz¹
¹ Department of Pathology, Sheri-kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India
² Department of Urology, Sheri-kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir, India

Date of Web Publication

13-Dec-2013

Correspondence Address:
Basharat Mubeen
Department of Pathology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu and Kashmir - 190 011
India

Source of Support: None, Conflict of Interest: None

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DOI: 10.4103/2321-4848.123035

Abstract

Extramedullary hematopoiesis (EMH) is the development of hematopoietic tissue outside the bone marrow and it most often occurs in the liver and spleen. Renal EMH is quite rare, and there are very few case reports concerning the kidney. We describe a case diagnosed with congenital dyserythropoetic anemia presenting with a solitary renal mass with splenomegaly. CECT showed a heterogeneously enhancing mass lesion suggestive of renal neoplasm. Microscopic examination revealed features of extramedullary hematopoiesis. We intend to present this case because of the rarity of EMH in kidney and to emphasize that its possibility should be kept in mind in any case of solitary renal mass, especially in those patients suffering from chronic hematological disorders.

Keywords: Congenital dyserythropoetic anemia, extramedullary hematopoiesis, kidney

How to cite this article:
Mubeen B, Lone IM, Hameed A, Charak A, Feroz I. Extramedullary hematopoiesis presenting as a solitary renal mass and mimicking a malignant tumor: A rare case report. Arch Med Health Sci 2013;1:159-62

How to cite this URL:
Mubeen B, Lone IM, Hameed A, Charak A, Feroz I. Extramedullary hematopoiesis presenting as a solitary renal mass and mimicking a malignant tumor: A rare case report. Arch Med Health Sci [serial online] 2013 [cited 2023 Mar 29];1:159-62. Available from: https://www.amhsjournal.org/text.asp?2013/1/2/159/123035

Introduction

Renal masses of uncertain etiology may be discovered incidentally, and in some cases, the diagnosis is difficult to establish based only on imaging examination. Extramedullary hematopoiesis (EMH) refers to the development of hematopoietic tissue outside the bone marrow and normally occurs in the reticulendothelial system (liver, spleen, and lymph nodes). The involvement of other parenchymatous organs is rare, and there are only sporadic reports concerning the kidney. ^{[1],[2],[3],[4],[5],[6],[7],[8]} We describe a case of histologically documented EMH presenting as a solitary renal mass and mimicking a malignant tumor of the kidney in a patient with a known history of congenital dyserythropoetic anemia.

Case Report

An 18-year-old male, diagnosed with congenital dyserythropoetic anemia type 1, presented with pain and swelling in the abdomen. Swelling was palpable in the right hypochondrium. Spleen was also moderately enlarged. Patient had history of multiple blood transfusions. Two siblings of the patient had already died because of this rare hematological disorder. CECT abdomen showed mass measuring 6.5 × 5 × 3.5 cm noted in lower pole of right kidney with mild homogenous contrast enhancement [Figure 1]. Moderate splenomegaly with dense area of calcification and prominent splenic vein. Gall bladder wall was thickened with cholelithiasis and choledocholithiasis. CT-guided biopsy was taken from the renal mass, but the material was inadequate for any definitive opinion. In view of doubtful renal mass, patient was admitted and planned for surgery. Intra-operatively, spleen was moderately enlarged. Since our patient had history of multiple transfusions, splenectomy was done to minimize the frequency of transfusions. Gallbladder was contracted and thick-walled containing multiple stones with a single stone in cystic duct. Kidney was enlarged, adherent superiorly to diaphragm and medially to duodenum. Huge lobulated hemorrhagic tumor was seen measuring 6.5 × 6 × 5 cm arising from lower pole of kidney [Figure 2]. Unfortunately, nephrectomy was done to remove the tumor en mass for final diagnosis. The histological examination revealed cells of three distinct lineages including myeloid and erythroid cells and few megakaryocytes in a hemorrhagic background [Figure 3]. Overall features were compatible with the final diagnosis of EMH presenting as a solitary renal mass. Foci of extramedullary hematopoiesis were seen in spleen also. Hilar lymph nodes of spleen were enlarged and showed reactive hyperplasia with sinus histiocytosis only.

Figure 1: CECT showing mass lesion in lower pole of right kidney with mild homogenous contrast enhancement

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Figure 2: Gross examination of nephrectomy specimen showing well circumscribed, lobulated hemorrhagic mass

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Figure 3: Microscopic examination reveals hematopoietic cells of all the three cell lineages. Three megakaryocytes seen in this field [Hematoxylin and Eosin, 400x]

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Discussion

Development and growth of hematopoietic tissue outside of the bone marrow is termed extramedullary hematopoiesis (EMH). ^[7],[8] Although the particular process is essential in fetal life, its occurrence after birth is usually considered abnormal. As is the case with physiologic EMH in the fetus, the liver and spleen are the usual sites of pathologic EMH. However, non-hepatosplenic EMH (NHS-EMH) has been reported in a myriad of other tissues and organs, including the mediastinum, ^[9] central nervous system, ^[10] peripheral nerve, ^[11] middle ear, ^[12] pancreas, ^[13] urethra, ^[14] pharynx, ^[15] pleura and lungs, ^[16] pericardium, ^[17] heart, ^[18] gastrointestinal tract, ^[19] thyroid gland, ^[20] kidney, ^[18] prostate gland, ^[21] breast, ^[22] and endometrium. ^[23] Although NHS-EMH is often associated with myelofibrosis with myeloid metaplasia (MMM) ^[24] or thalassemia, ^[25] it can also accompany other disorders, including hereditary spherocytosis, ^[26] sickle cell anemia, ^[27] congenital dyserythropoietic anemia, ^[28] immune thrombocytopenic purpura, ^[29] chronic myeloid leukemia, ^[30] polycythemia vera, ^[31],[32] myelodysplastic syndrome, ^[33] Paget disease, ^[34] osteopetrosis, ^[35] and Gaucher disease ^[36] and treatment with myeloid growth factors. ^{[37],[38],[39]} Occasionally, an associated disease is not identified. ^[40],[41]

Congenital dyserythropoietic anemia type I (CDA I) is a rare autosomal-recessive disorder with ineffective erythropoiesis and iron overloading. Although many patients with CDA I are able to realize their social and professional goals, others may have relevant morbidity and if untreated, may even die of sequels related to CDA I. As in CDA II, 33 gallstones are detected more frequently and at younger age than expected in the healthy population. ^[42] Our patient was 18-years-old and had multiple stones in the gall bladder with one stone in cystic duct. Bulky extramedullary hematopoiesis may occur, and in our case, it was in one of the rarest sites-kidney.

The kidney is an unusual site for the occurrence of EMH, and clinically, renal EMH can be asymptomatic. There have been <20 previous reports of EMH renal involvement. ^{[1],[2],[3],[4],[5],[6],[7],[8]}

Renal involvement can be parenchymal, intrapelvic, or perirenal. In the parenchymal type, the kidneys may either be enlarged or have focal lesions and the masses may be indistinguishable from renal cell carcinoma. ^[2],[3] Pelvicalyceal or hilar involvement is often an extension of a parenchymal lesion pattern, and in this site, the EMH tissue may cause obstructive renal failure. ^[4],[5] In the perirenal type, the soft tissue encases both kidneys. The bilateral perirenal localization of EMH may sometimes mimic a renal lymphoma. ^[6]

The differential diagnosis of a perirenal or parapelvic mass of uncertain etiology includes tumors, lymphomas, lipomatosis and renal inflammatory or infectious tissue. ^[2],[6] Our patient presented with a solitary renal mass and was parenchymal and highly vascular.

In our case, we chose a CT-guided biopsy approach to arrive at a final diagnosis. But, no definitive opinion could be made on the scanty material, so nephrectomy was done to remove tumor en mass for definitive opinion.

Iron overloading has been recognized as a potential consequence in most but not in all patients and on long-term follow-up iron overloading with potential tissue damage is to be expected in almost all patients. ^[42],[43] Lifelong monitoring of serum ferritin is, therefore, mandatory, and iron depletion should be started if ferritin concentrations approach a level of 1000 μg/L, or if there is other evidence for organ damage by secondary hemochromatosis. Splenectomy is not recommended as a standard procedure, even in patients with marked anemia, although in exceptionally severe cases, it may lessen the need for transfusions. ^{[43],[44],[45],[46]} Our patient had history of multiple transfusions, so splenectomy was done to minimize the frequency of transfusions and iron overload.

Conclusion

EMH presenting as a solitary renal mass is extremely rare, but it doesn't mean we should ignore its possibility. CT-guided biopsy should be the first-line investigation so that surgical intervention could be prevented in such cases. It should be always kept in mind before going for any radical procedure as was done in this case unfortunately.

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Figures

[Figure 1], [Figure 2], [Figure 3]

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