Clinical cases
Intestinal Ewing sarcoma: An unusual presentation in the pediatric
age
Sarcoma de Ewing intestinal: presentación inusual en la edad
pediátrica
Eduardo Liquidano-Pérez1
Rubí Martínez-Vázquez1
Jesús G. Ponce-Cruz1
Luis R. Olivas-Román1
Pedro M. Pasquel-García1
Liliana Velasco-Hidalgo1
*
1Instituto Nacional de Pediatría, Secretaría de
Salud, Mexico City, Mexico
Abstract
Background:
Ewing’s Sarcoma (ES) is the second most common type of bone cancer, with an
annual incidence of 2.9:100,000. Extraosseous cases represent 15%; however,
there are no reported cases of ES located in the intestine in the pediatric
population.
Case report:
We describe the case of a 14-year-old male patient, previously healthy, who
started with an anemic syndrome, weight loss, and diaphoresis of 8 weeks of
evolution. After visiting a physician, who documented the presence of
anemia, the patient was referred to the National Institute of Pediatrics.
Physical examination showed grade III-IV systolic murmur, splenomegaly, and
pain in the left hemiabdomen with no irradiation. Computed axial tomography
showed a mass-dependent on the peritoneum and intestinal loop. A biopsy of
the lesion showed intestinal ES. The lesion was completely resected, and the
patient was treated with chemotherapy and radiotherapy. Thirty months after
diagnosis, the patient has no evidence of tumor activity.
Conclusions:
Extraosseous presentation of ES in pediatric age is rare. There are no
reports of intestinal ES in the Latin American pediatric population,
although eight case reports were found in adults. ES is curable by a
combination of chemotherapy, radiotherapy, and surgery. The medical
literature indicates that the extraosseous presentation should receive the
same treatment as the osseous presentation, which can provide a survival
rate of up to 70% if there is no evidence of metastasis (which most
frequently is observed in the lung).
Key words Abdominal neoplasm; Ewing sarcoma; Malignant mesenchymal tumor
Resumen
Introducción:
El sarcoma de Ewing (SE) es el segundo tipo cáncer más común de hueso, cuya
incidencia anual es de 2.9:100,000. Los casos extraóseos representan el 15%;
sin embargo, no existen reportes en la literatura de casos de SE ubicados en
el intestino en la población pediátrica.
Caso clínico:
Se describe el caso de un paciente de sexo masculino de 14 años, previamente
sano, que inició con síndrome anémico, pérdida de peso y diaforesis de 8
semanas de evolución. Acudió con un médico, quien documentó la presencia de
anemia y lo refirió al Instituto Nacional de Pediatría. A la exploración
física presentaba soplo sistólico grado III-IV, esplenomegalia y dolor en
hemiabdomen izquierdo sin irradiaciones. La tomografía axial computarizada
mostró una masa dependiente del peritoneo y asa intestinal. La biopsia de la
lesión reportó SE intestinal. Se resecó por completo la lesión y el paciente
recibió tratamiento con quimioterapia y radioterapia. Después de 30 meses
del diagnóstico, el paciente se encuentra sin datos de actividad
tumoral.
Conclusiones:
La presentación extraósea del SE en edad pediátrica es rara. No existen
reportes de presentación de SE intestinal en la población pediátrica
latinoamericana, aunque se encontraron ocho reportes de caso en adultos. El
SE es curable mediante la combinación de quimioterapia, radioterapia y
cirugía. La literatura médica indica que la presentación extraósea debe
recibir el mismo tratamiento que la ósea, lo cual puede proporcionar una
sobrevida de hasta el 70% si no hay evidencia de metástasis (que ocurre más
frecuentemente a pulmón).
Palabras clave Masa abdominal; Sarcoma de Ewing extraóseo; Tumor maligno mesenquimatoso
Introduction
Ewing’s sarcoma (ES) is the second most frequent primary malignant bone tumor in the
pediatric age group, with an estimated incidence of 2.9:100,000. ES represents 34%
of primary bone tumors1,2. The axial skeleton, pelvis, femur, and ribs are the most
common locations. The most frequently reported site of metastasis is the lungs. In
children, ES is more frequent in males, with a ratio of 3:2 and a mean age of 14
years1,3. ES is a very aggressive cancer, with a survival rate of 70% to 80%
for patients with localized, usual-risk disease and 30% for those with metastatic
disease1, representing 20-30% of cases. ES
originates from mesenchymal cells. Therefore, 15% of ES are extraosseous as they
arise from different tissues. Here, we describe an unusual case of intestinal ES in
a pediatric patient.
Clinical case
We describe the case of a 14-year-old male with no relevant history. The patient
presented with an anemic syndrome, unintentional weight loss of 6 kg, and
diaphoresis of 8 weeks of evolution. The attending physician requested a complete
blood count that revealed non-regenerative anemia, with hemoglobin (Hb) 5.3 g/dl.
Subsequently, the patient was referred to the National Institute of Pediatrics.
Initial physical examination showed pallor, systolic murmur III-IV, splenomegaly, and
pain in the left abdomen. Among the initial studies, abdominal ultrasonography (USG)
showed a mass of 115 x 102 x 80 mm with hypodense areas on the left flank, and
computed tomography (CT) showed evidence of a peritoneum-dependent tumor without
abdominal lymphadenopathy. PET/CT with FDG (fluorodeoxyglucose positron emission
tomography/CT) showed an 11.2 x 10.5 x 7.2 cm tumor in the left flank, extending
longitudinally from the lower splenic border to the upper third of the proximal
insertion of the ipsilateral psoas muscle and transversely from the anterior
abdominal wall to the anterior border of the left kidney with no infiltrations. A
USG-guided biopsy of the abdominal mass was performed, showing monotonous cells with
round nuclei, inconspicuous nucleolus, and scant eosinophilic cytoplasm arranged in
solid clusters intermixed with areas of tumor necrosis (Figure 1). Immunohistochemical staining with CD99 and Fli-1 was
positive (Figure 2); CD-117, myeloperoxidase
(MPO), Wilms tumor (WT-1), CD34, and extranodal spread (ENS) markers were negative.
Due to these histological and immunohistochemical findings, Ewing’s sarcoma was
diagnosed.
Complete surgical resection was performed (Figure
3), and chemotherapy treatment with
vincristine/doxorubicin/cyclophosphamide and etoposide/ifosfamide was started
alternately for seven cycles. The patient also received radiotherapy to the abdomen
and pelvis at 24 Gy. Later, a new cycle was administered to the pelvis at 26 Gy.
Thirty months after diagnosis, the patient is under close follow-up and the PET scan
has shown no evidence of tumor activity.
Discussion
As ES originates from mesenchymal progenitor cells, it has the ability to develop in
multiple tissues. The most common clinical manifestation is mild pain that worsens
with exercise and at night, including symptoms of spinal cord compression manifested
by weakness or loss of sphincter control when the primary lesion is present in an
axial location. Constitutional symptoms are present in 10-20% at diagnosis. Symptoms
vary depending on the affected area1. This
variation represents a challenge because the clinician must integrate the indolent
manifestations until the precise diagnosis.
The final diagnosis always requires histopathological support to confirm the presence
of CD99 and EWS-FLI1 (Ewing sarcoma breakpoint region 1/Friend leukemia integration
1 transcription factor) with immunohistochemical studies4. Extraosseous presentation of ES is infrequent4; most ES are reported in the trunk, head,
neck, and extremities2,4,5. Some studies in the
literature have reported ES in the adrenal glands, kidneys, intestine, liver, and
peritoneum3,4,6-10. Intestinal presentation is more frequent than skeletal ES
in adult women. In contrast, no reports were found on intestinal ES in the pediatric
age group4.
In this patient, the underlying data led to the initial diagnosis of an anemic
syndrome with few abdominal symptoms that delayed the diagnosis. Most extraosseous
ES can be cured with the combination of chemotherapy, radiotherapy, and surgery; the
treatment scheme is decided with the same guidelines as in skeletal ES. The evidence
so far indicates that extraosseous involvement is not a poor prognostic factor, as
survival is affected by other factors such as the stage of the disease at diagnosis
and the resectability of the primary tumor. In most series, the extraosseous
presentation was mostly muscular, with greater involvement at the level of the
pelvic limbs. Therefore, in the case presented here, the tumor’s location did not
play an essential role in the patient’s prognosis. Hence, a 5-year survival of 70%
is expected, with an adequate response to the first line of treatment1.
Extraosseous presentation of ES in pediatric age is rare. Therefore, it requires a
multidisciplinary approach to diagnose it accurately. Until now, there are no
reports in the Latin American literature of intestinal presentation of ES in the
pediatric age group.
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