Intraperitoneal rhabdoid tumor with spontaneous internal bleeding in a 9-year-old child: A rare case report

Abstract

Introduction and importance

Malignant rhabdoid tumor is a rare malignancy which occurs in children with limited cases reported.

Case presentation

We report a very rare primary intraperitoneal rhabdoid tumor in a 9-year-old female child. The only case was first reported in a 10-year old girl in 2014 (Nam et al., 2014 [1]). The diagnostic became a problem as the case was initially diagnosed as Ovarian Malignancy. It did not match the initial abdominal Computed Tomography (CT) imaging which showed a bilateral malignant ovarian tumor that resembled Ovarian Carcinoma.

Clinical discussion

Preoperative diagnosis of intraperitoneal Rhabdoid tumor is difficult, as it commonly occurs in the brain (ATRT) or Kidney (MRTK) and rarely occurs intraperitoneally. Moreover, the clinical symptom and radiologic findings in this tumor remained unclear. Most cases had CT Scan findings as heterogenous enhancing nodules with central necrosis (hypodense) and usually metastatic. The definitive diagnosis of Rhabdoid Tumor is based on post-resection histopathology and immunohistochemistry (IHC).

Conclusion

The intraperitoneal rhabdoid tumor is rare and has an extremely poor prognosis. The physicians should be alert when finding intraabdominal mass; rhabdoid tumor should be the differential diagnosis.

Highlights

• •Malignant rhabdoid tumor is a rare malignancy with limited cases reported.
• •The primary site of rhabdoid tumor varies; each of them has unclear clinical manifestation.
• •The definitive diagnosis of rhabdoid tumor is based on histopathology and immunohistochemistry (IHC).
• •The behavior of rhabdoid tumor showed an extremerly poor prognosis.

1. Introduction

Malignant rhabdoid tumor is a rare malignancy that occurs in young children. It was first described in 1978 as a variant of Wilm's Tumor with a rhabdomyosarcoma pattern. However, in 1981 Haas et al. termed it as malignant rhabdoid tumor because it microscopically contains rhabdomyoblast without myogenic filaments in the cytoplasm [2]^, [3]. This tumor predominantly arises in the brain (Atypical Teratoid Rhabdoid Tumor/ATRT), kidney (Malignant Rhabdoid Tumor of Kidney/MRTK), and soft tissues (Extrarenal Extracranial Rhabdoid Tumor/EERT) [4]. The incidence of this tumor is still rarely reported. From 1986 until 2013, Alice et al. reported 25 patients with rhabdoid tumors. Thirteen were diagnosed as ATRT, eight as MRTK, and four as EERT with primary sites on the head, neck, and pelvis [5]. There was only 1 Intraperitoneal Rhabdoid Tumor case in a 10-year-old girl reported by So Hyun Nam et al. in 2014 [1]. In this case, we reported unusual MRT primarily in the peritoneum, which was initially misdiagnosed as an ovarian malignancy.

This case has been reported in accordance with SCARE 2020 standards [6].

2. Presentation of case

An Indonesian 9-year-old female child was admitted to our hospital with generalized abdominal enlargement, pain, and anemia. The pain occurred for about a week, accompanied by nauseous and persistent constipation. There were no other remarkable symptoms. According to her parents, there was no remarkable history of patient's past illness. The patient is an only child, born normally without any complications and no congenital disease was found. The history of family illness also shows no remarkable relation with the patient's illness. The patient's parents have no history of any hereditary disease and have no habit of smoking or history of drug use. The patient was referred to our hospital in a weak condition; the blood pressure was 90/60 mmHg, and the heart rate was 115 bpm. The physical examination showed anemic conjunctiva and abdominal tenderness with a positive shifting dullness sign. The laboratory test showed anemia with a hemoglobin level of 6,7 g/dL.

The first imaging performed on this patient was an abdominal CT scan with IV contrast. The result of the Abdominal CT Scan was suggestive of bilateral ovarian mass (size 2,27 × 1,81 × 2,09 cm on the right side and 2,48 × 2,06 × 2,32 cm on the left side), intraperitoneal carcinomatosis with omental mass (size 8,88 × 6,43 × 8 cm) and fluid collection [Fig. 1]. After the imaging was performed, the patient underwent the second examination, which was a Fine Needle Aspiration Biopsy. While performing an FNAB, the physicians found spontaneous intraperitoneal blood, then performed the emergency surgery. We did not make a PET Scan examination because it was confirmed on the CT Scan that the ovaries were the origin of the tumor.

Fig. 1.

CT scan showed heterogenous enhancing nodules in bilateral ovaries and omental mass.

Emergency Laparotomy was performed by our digestive surgeon, and 3 L of blood was found in the intraperitoneal pouch of the abdomen. The origin of the bleeding was a fragile and bloody tumor in the massive omental cake [Fig. 2, Fig. 3]. The mass was eliminated without performing any intestinal resection. Some spreading omental mass was found, which was not eliminated due to the advanced case. The surgery was ended by closing the abdominal wall and inserting an intraperitoneal drain.

Fig. 2.

Durante Op showing fragile omental mass before resected.

Fig. 3.

Resected tumor sample showing omental mass and active bleeding.

The preoperative diagnosis was bilateral ovarian malignancies with ascites. Unexpectedly, the postoperative pathology demonstrated a malignant extrarenal rhabdoid tumor, further verified using immunohistochemistry assays, showed a high-grade extrarenal rhabdoid tumor of omentum with Vimentin (+), EMA (+) in some tumor cells, CD99 (+), and CD56 (+). The final diagnosis was intraperitoneal rhabdoid tumor with spontaneous internal bleeding. The patient received postoperative care in the intensive care unit.

During postoperative care, the patient received some supportive therapy such as blood transfusion, parenteral nutrition, antibiotics and moreover. After the supportive therapy, the patient's condition clinically improved. From the patient's perspective, abdominal pain and distention were significantly reduced, despite of the surgical wound's pain. However, the patient's condition worsened due to hemorrhagic anemia leading to multiple organ failure. The patient was deceased three weeks after the surgery with no chance of chemo/targeted therapy due to an unfavorable clinical condition.

3. Discussion

Rhabdoid Tumor is a rare and aggressive tumor that arises primarily in the brain and kidney. The histology of the tumor is characterized by the cellular proliferation of poorly differentiated malignant cells with large eccentric nuclei, central hematoxyphillic nucleus, and abundant eosinophilic cytoplasm with hyaline cytoplasmic inclusions. However, this histopathology pattern may not be typical and still difficult to diagnose [7]^, [8].

There were 2 Extrarenal MRT cases in childhood reported by Howman-Giles et al. One of them had primary adrenal gland MRT and multiple metastatic diseases in the lungs, liver, and paravertebral in PET/CT Scan with clinical abdominal pain previously [7]. However, it was not found in our patient, so it was impossible that the abdominal tumor was diagnosed as Rhabdoid Tumor. Rhabdoid Tumor does not have any specific clinical presentation, and it is reported that the most common complaint is pain in the primary site of the tumor. In our patient, we just found malignant bilateral ovarian masses and intraperitoneal carcinomatosis with omental caking in CT Scan resembling a malignant tumor with intraperitoneal metastatic. The closest differential diagnosis as the origin of the tumor was ovarian carcinoma. The most similar case reported before us was Intraperitoneal Rhabdoid Tumor in a 10-year-old girl by So Hyun Nam et al. They found a huge omental solid mass that was freely movable and free of adhesions to any other part of intraabdominal organs [1]. Nevertheless, in our case, we found some spreading omental masses and spontaneous intraperitoneal bleeding originating from the tumor, which wasn't reported in any case.

The definitive diagnosis of MRT is made from combined post-resection histopathology and IHC analysis [9]. In our patient, the histological result was a malignant tumor arranged in an alveolar-like pattern composed of tumor cells displaying rounded nuclei, pleomorphic, eosinophilic cytoplasm, and some cells with oval to spindle nuclei that initially resembled alveolar rhabdomyosarcoma. However, because of its uncertainty, we performed IHC on our patient. In our case, the immunohistochemistry staining vimentin and EMA were positive. A positive result of EMA and Vimentin in IHC revealed malignant rhabdoid tumors of the kidney and all soft tissues [10]^, [11]^, [12].

We herein reported a very rare malignant rhabdoid tumor originating from the intraperitoneal with spontaneous internal bleeding. As far as we know, in the past literature, the behavior of this tumor showed an extremely poor prognosis, as was in our patient [7]. Despite its rarity and extremely poor prognosis, we should never be too late to diagnose and always perform the most appropriate treatment in patients with malignant rhabdoid tumors.

4. Conclusion

Intraperitoneal Malignant Rhabdoid Tumor originating from intraperitoneal is a very rare tumor with various clinical presentations. It's challenging to make a preoperative diagnosis because of its uncertain clinical symptoms and imaging. The rarity of the case and lack of case reports of MRT made the physicians misdiagnose this case. The physicians should be alert when finding intraabdominal mass; rhabdoid tumor should be the differential diagnosis.

Abbreviations

CT

Computed Tomography

IHC

immunohistochemistry

MRT

Malignant Rhabdoid Tumor

FNAB

Fine Needle Aspiration Biopsy

PET

positron emission tomography

EMA

epithelial membrane antigen

Patient's consent

Written informed consent was obtained from the patient's parent for publication of this case report and accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal on request.

Funding

This research did not receive any specific grant from funding agencies in public, commercial, or not-for-profit sectors.

Ethical approval

Ethical approval is exempt/waived at our institution.

Author contribution

Leonardo Suryawan: conceptualization, data curation, investigation writing – original draft.

Vicky Sumarki Budipramana: conceptualization, formal analysis, investigation, writing – review & editing, supervision.

Guarantor

Leonardo Suryawan, Emergency Department, Premier Surabaya Hospital.

Research registration number

None.

Declaration of competing interest

No conflict of interest.