Pediatric primary extra-ovarian Sertoli Leydig cell tumor of the retroperitoneum

Chinmayee Panigrahi; Pritinanda Mishra; Akash Bihari Pati; Kanishka Das; Mukund Sable

doi:10.4103/ijpm.ijpm_677_21

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Year : 2023 | Volume : 66 | Issue : 1 | Page : 145-147

Pediatric primary extra-ovarian Sertoli Leydig cell tumor of the retroperitoneum

Chinmayee Panigrahi¹, Pritinanda Mishra¹, Akash Bihari Pati², Kanishka Das², Mukund Sable¹
¹ Department of Pathology and Lab Medicine, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India
² Department of Paediatric Surgery, All India Institute of Medical Sciences, Bhubaneswar, Odisha, India

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Date of Submission	29-Jun-2021
Date of Decision	15-Jul-2021
Date of Acceptance	24-Aug-2021
Date of Web Publication	18-Jan-2023

Abstract

Ovarian Sertoli Leydig cell tumors (SLCT) accounts for less than 0.5% of all ovarian malignancies. The incidence of primary extra-ovarian SLCT is extremely rare with reported cases occurring in young adult women till now. We report case of primary retroperitoneal extra-ovarian SLCT in a seven-year girl child without any hormonal manifestation. She presented with complaint of left side abdominal swelling associated with intermittent pain for a duration of six months. CT scan revealed a huge retroperitoneal space-occupying lesion abutting the dorsal vertebrae and present posterior to pancreas, spleen and left kidney. The tumor was diagnosed as extraovarian Sertoli Leydig cell tumor with intermediate differentiation on histopathology and immunohistochemistry.

Keywords: Gonadal ridge, inhibin, retroperitonium, sertoli-leydig cell tumor, sex cord cell

How to cite this article:
Panigrahi C, Mishra P, Pati AB, Das K, Sable M. Pediatric primary extra-ovarian Sertoli Leydig cell tumor of the retroperitoneum. Indian J Pathol Microbiol 2023;66:145-7

How to cite this URL:
Panigrahi C, Mishra P, Pati AB, Das K, Sable M. Pediatric primary extra-ovarian Sertoli Leydig cell tumor of the retroperitoneum. Indian J Pathol Microbiol [serial online] 2023 [cited 2023 Mar 20];66:145-7. Available from: https://www.ijpmonline.org/text.asp?2023/66/1/145/367972

Introduction

Sertoli-Leydig cell tumors (SLCTs) are a group of sex cord-stromal tumors (SCST) that usually arise from the ovary and account for less than 0.5% of all ovarian malignancies.^[1] Most are confined to the ovary, are unilateral, and occur in young women in the second to third decade of life.^[1] Primary sexcord stromal tumors at extraovarian sites are extremely rare^[2] and have been described in the broad ligament, retroperitoneum, fallopian tube, umbilical sac, adrenal gland, and pelvic side wall with granulosa cell tumor (GCT) being the predominant histologic type.^{[2],[3],[4],[5],[6],[7]}

Until now, only two cases of extra-ovarian SLCT have been reported in adult women.^[8],[9] We present the first case of a pediatric primary retroperitoneal extra-ovarian SLCT. It had an unusual presentation and was a diagnostic challenge.

Case History

A 7-year-old girl presented with a progressively enlarging, left abdominal swelling for six months; there was associated mild intermittent abdominal pain and occasional non-bilious, postprandial vomiting. Besides a significant weight loss, there was no other contributory history or symptoms. The past medical history was unremarkable. The general physical examination was normal. On palpation, a 10 cm × 8 cm, firm, non-tender lump with smooth surface and well-defined margins occupied the left lumbar, left hypochondriac region reaching across the midline up to the umbilicus. There were neither ascites nor any other masses palpable in the abdomen. The routine investigations and select tumor markers [Alfafetoprotein (AFP) and beta HCG] were within normal range. The contrast-enhanced computed tomography (CECT) showed a 12 × 11 cm, multiseptate, predominantly cystic, retroperitoneal mass occupying the left half of the abdomen from the dome of diaphragm to the iliac crest. It filled the left paravertebral sulcus displacing the abdominal aorta and inferior venacava to the right, the pancreas, spleen and left kidney anteriorly and the caudate lobe of liver cranially. [Figure 1]a and [Figure 1]b). The mass had a calcific focus; the Status of uterus and ovariesa. A provisional diagnosis of a retroperitoneal neoplasm, probably a germ cell tumor was considered and laparotomy planned. Laparotomy revealed a 12 × 11 × 7.5 cm, retroperitoneal, well-encapsulated, predominantly cystic mass with a bosselated surface. It was densely adherent to the diaphragm. The uterus and bilateral ovaries were grossly normal. The mass was excised in toto and submitted for histopathological evaluation. It weighed 1262 gm and on cutting open thick, serous, grayish-brown copious amount of material was drained out. The cut section showed a solid-cystic tumor, predominantly solid with variegated appearance and areas of extensive necrosis. [Figure 1]c and [Figure 1]d

Figure 1: (a, b) Computed tomography (a: sagittal and b: Axial view), showing the septate, predominantly cystic retroperitoneal mass from the iliac crest to the diaphragm; there are few solid, enhancing areas. Note the medially displaced left kidney (long arrow), aorta (short arrow) and inferior vena cava (arrowhead); (c) Macroscopic examination showed an encapsulated, well-circumscribed mass; (d) The cut section was variegated

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Microscopically, the tumor consisted of round to ovoid cells with moderate pleomorphism, arranged predominantly in retiform pattern, cords, trabeculae, papillary, occasional glands and in solid and cystic pattern. The cells showed moderate cytoplasm, irregular nuclear contour and coarse clumped chromatin with both conspicuous and inconspicuous nucleoli. Intervening areas showed occasional glandular structures with mucinous epithelium along with polyhedral cells with abundant vacuolated cytoplasm, round nucleus, vesicular to coarse clumped chromatin and focal myxoid areas. Many mitotic figures (7-8/hpf) with eosinophilic secretions were also noted. Infrequent Leydig cells with eosinophilic cytoplasm were found focally. [Figure 2]a, [Figure 2]b, [Figure 2]c, [Figure 2]d, [Figure 2]e, [Figure 2]f The tumor cells stained immunopositive for inhibin-alpha, Wilms tumor 1, Pancytokeratin, CD99 and CD56. Desmin and calretinin showed focal positivity. The tumor cells were immunonegative for epithelial membrane antigen, CDX2, AFP, CK20 and CK7. [Figure 3]a, [Figure 3]b, [Figure 3]c, [Figure 3]d, [Figure 3]e, [Figure 3]f, [Figure 3]g, [Figure 3]h.

Figure 2: Histopathological findings of retroperitoneal tumor: (a) Tumor comprising of retiform arrangement of tumor cells against hyalinized stroma (H and E, 100×); (b) Papillary arrangement of tumor cells (H and E, 200×); (c-e) Tumor cells showing pale vacuolated cytoplasm (H and E, 10×); (f) Tumor showing heterologous element in the form of columnar mucinous epithelium (H and E, 10×, 200×)

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Figure 3: Immunohistochemical findings of retroperitoneal tumor showing positivity for (a) WT1; (100×); (b) PanCK; (200×); (c) CD99; (200×); (d) Inhibin; (200×); (e) CD56; (200×); (f) Desmin; (200×); (g) Epithelial membrane antigen; (200×); (h) Alfa fetoprotein; (200×)

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Based on the clinical, histopathological and immunohistochemical evaluation, a diagnosis of primary, retroperitoneal, extraovarian Sertoli Leydig cell tumor with intermediate differentiation was made.

Discussion

The occurrence of primary, extraovarian, SCST in the female is rare and GCT is the predominant histologic type.^[2] Only 11 such cases have been reported - five GCT, one thecoma, two sex cord stromal tumor with annular tubules and two SLCT.^{[2],[4],[5],[8],[9],[10]} Compared to extraovarian sites, ovarian SLCT typically manifest in young adults with average age of presentation of 24 years and rarely (<10%) in the elderly, extraovarian SLCT are commoner in the latter. Clinically, ovarian SLCT usually manifest as pelvic pain/mass with signs and symptoms related to excess androgenic and rarely estrogenic secretion.^[11] However, similar hormonal manifestations have not been reported in both the extraovarian SLCT.^[8],[9] The present case of a primary retroperitoneal extraovarian SCLT in a seven-year female had no clinical features to suggest a functional neoplasm.

Retroperitoneum is the site of development of the gonadal ridges. Shortly before and during the arrival of the germ cells, the coelomic epithelium on the ridge penetrates into the underlying mesenchyme to form the primitive sex cords. This explains the location of sex cord stromal tumors in the retroperitoneum. Recently, a dualistic theory has been proposed to explain the origin of pre-granulosa cells from both the coelomic epithelium and the mesonephros.^[12] It states that the mesonephros or its functional part are necessary for the development of sex cords and attributes the origin of extraovarian SCST from the broad ligament, retroperitoneum, mesentery and adrenal gland to the proximity of these to the mesonephros/mesonephric duct during embryonic differentiation.^[2] Both the cases of extra-ovarian SLCT described previously were located in the mesentery, one without DICER1 mutation.^[8],[9]

Extraovarian SLThis case illustrates the diagnostic dilemma in a rare tumor at an uncommon location in a young child. Although DICER 1 mutation is consistently present in moderate to poorly differentiated SLCT^[13]; we could not demonstrate the same in a resource limited setting. However, the characteristic histologic features and immunoprofile of the tumor helped in establishing the diagnosis.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

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