1.Beyond the Bone: Extraskeletal Ewing Sarcoma Primary to the Breast in a 13-year-old Male
Jaeson M. Jimenez ; John Nicholas M. Pantoja ; Manuelito A. Madrid
Philippine Journal of Pathology 2026;(75th PSP Research Competition Abstracts):1-2
Introduction:
Extraskeletal Ewing sarcoma (EES) is a rare subtype of Ewing Sarcoma. It
is more common in older age group compared with Classic Ewing Sarcoma that is seen in
pediatric patients. It usually presents in the upper extremities, hips, and pelvis. The breast
is an unusual primary location for this tumor, and there are very few reported cases in the
literature. In the Philippines, there have been no reported cases yet of EES primary to the
breast in the pediatric age group.
Case Description:
This is a case of a right upper chest mass from a 13-year-old male noted
with progression of size for the past 8 months associated with pain. A biopsy was done in
the initial consult and yielded unremarkable results, hence management with unrecalled
antibiotics and pain medications. Continuous worsening of symptoms led to consultation at
our institution, wherein a non-tender, non-erythematous, non-movable, firm, 15 x 13 cm
mass was noted at the right chest during his ER consult and subsequent admission. CT
scan with contrast revealed a right chest wall mass (16.8 x 18.1 x 9.5 cm) with focal areas
of intrathoracic extension and associated pleural thickening. The patient subsequently
underwent an incision biopsy for further workup.
Microscopically, sheets and cords of small round blue cells are seen with scant to ample
amphophilic cytoplasm, increased nuclear to cytoplasmic ratio, coarse chromatin pattern, and
inconspicuous nucleoli set in a background of fibrocollagenous stroma. About 5-10 mitoses
are also seen per 10 high-power fields, some of which are atypical. Based on the patient’s
medical history, radiographic findings and histomorphologic characteristics of the case,
the primary working diagnosis for this case is a malignant small round blue cell neoplasm.
Immunohistochemistry studies showed strong, diffuse, membranous, and cytoplasmic
immunoreactivity to CD99, while the rest of the immunohistochemical stains (Desmin,
Myogenin, Chromogranin, CD45, and SALL4) yielded negative results. Additionally, NKX2.2
was also performed which showed strong, diffuse, nuclear immunoreactivity to the neoplastic
cells. The case is compatible with the diagnosis of Ewing Sarcoma. Subsequent molecular
test on ESWR1 via Fluorescence in-situ hybridization (FISH) revealed an ESWR gene
break apart, which further supports the diagnosis of Ewing Sarcoma. Six months after the biopsy, and having completed 3 cycles of chemotherapy, the patient
subsequently underwent excision of the mass. The excised tumor was submitted for
histopathologic evaluation, which showed good response (89% treatment effect, mainly
composed of extensive necrosis). There is no involvement of the adjacent rib bone, and all
surgical margins are negative for tumor; thus, this has been signed out as a case of Extraskeletal
Ewing Sarcoma of the Breast.
Discussion:
Extraskeletal Ewing Sarcoma (EES) is a highly aggressive tumor seen among
12% of patients with Ewing Sarcoma (ES). It has a wide anatomic distribution.Typically, it is
most common on the upper extremities, hips and pelvic area. It is also seen more among
older age group, usually in the 4th decade of life in some of the reported cases, in comparison
with classic ES. The breast is an unusual location for the tumor for both adult and pediatric
patients. Most tumors of the breast commonly seen in the pediatric age group are metastatic
processes, which include rhabdomyosarcoma and lymphoma. CD99 is an important and
essential immunohistochemical stain (IHC) in the diagnosis of Ewing sarcoma; 95% of cases
of ES has a diffuse, strong membranous expression. NKX2.2 is also useful in the diagnosis, as
it is more specific with ES. S100, ERG and FL1 can also be used to support the diagnosis of ES.
Molecular testing is also a requirement and helpful in the diagnosis of EES. The tumor is
associated with FET-ETS fusion genes. EWSR1-FLI1 fusion is the most common genetic
alteration with EES which resulted from translocation in the t(11;22)(q24;q12). Other mutation
of the tumor include ESWR-ERG1.
EES primary to the breast has a poorer prognosis despite multimodal treatments in comparison
to EES located in different sites with a good prognosis.
There have been nineteen (19) reported cases of EES primary to the breast. This accounts
for less than 1% of overall cases for EES. Currently, there have been no reported cases of EES
primary to the breast in the local setting.
Conclusion
Ewing sarcoma should still be considered as one of the main differential
diagnoses for pediatric patients presenting with soft tissue mass in the breast as well as in other
locations. Due to its aggressive clinical course, prompt diagnosis can help increase survivability,
surveillance of recurrence, and metastasis.
Child
;
Sarcoma, Ewing
;
Mutation
2.Ileo-Ileal Intussusception with Meckel Diverticulum in a Filipino adolescent
John Nicholas Pantoja ; Manuelito Madrid
Philippine Journal of Pathology 2023;8(2):53-56
Intussusception refers to the invagination (telescoping) of a part of the intestine into itself. Intussusception occurs primarily in infants and toddlers.1 The peak incidence is between 4 and 36 months of age, and it is the most common cause of intestinal obstruction in this age group. 2 Approximately 1 percent of cases are in infants younger than three months, 30 percent between 3 and 12 months, 20 percent between one and two years, 25 percent between two and three years, and 10 percent between three and four years.3 Although intussusception is most common in infants and young children, it is important to consider this diagnosis in children outside this age range. Approximately 10 percent of cases are in children over five years, and 3 to 4 percent in those over 10 years.3,4 We share here images from an actual case of a 15-year-old Filipino male with an ileo-ileal intussusception that is beyond the typical age range, with an incidental finding of an intraluminal mass that was histomorphologically diagnosed as Meckel’s diverticulum (MD). The diagnosis of intussusception is relatively rare in the patient’s age and the diagnosis of MD in the presence of intussusception is sparsely reported in the Philippines.
Intussusception refers to the invagination (telescoping) of a part of the intestine into itself. Intussusception occurs primarily in infants and toddlers.1 The peak incidence is between 4 and 36 months of age, and it is the most common cause of intestinal obstruction in this age group. 2 Approximately 1 percent of cases are in infants younger than three months, 30 percent between 3 and 12 months, 20 percent between one and two years, 25 percent between two and three years, and 10 percent between three and four years.3 Although intussusception is most common in infants and young children, it is important to consider this diagnosis in children outside this age range. Approximately 10 percent of cases are in children over five years, and 3 to 4 percent in those over 10 years.3,4 We share here images from an actual case of a 15-year-old Filipino male with an ileo-ileal intussusception that is beyond the typical age range, with an incidental finding of an intraluminal mass that was histomorphologically diagnosed as Meckel’s diverticulum (MD). The diagnosis of intussusception is relatively rare in the patient’s age and the diagnosis of MD in the presence of intussusception is sparsely reported in the Philippines.
Meckel Diverticulum
;
Strabismus
;
Adolescent
3.Submandibular secretory carcinoma in a 10-year-old Filipino
John Nicholas Pantoja ; Francisco Tria IV ; Manuelito Madrid
Philippine Journal of Pathology 2022;7(2):46-49
Secretory carcinoma is a recently described salivary gland neoplasm reported in the fourth edition of World Health Organization classification of head and neck tumors.1 We report a case of a primary secretory carcinoma arising from the submandibular gland that was completely excised in a 10-year-old. The histomorphologic features and the immunophenotype studies are compatible with secretory carcinoma. Unless proven otherwise by immunohistochemical stains and cytogenetics, secretory carcinoma should be included as a differential in cases of lesion of the major and minor salivary glands that has the primary differential diagnosis of acinic cell carcinoma. This case report aims to contribute to the limited literature about this disease entity and would be one of the few reported cases of the disease in a school-age child.


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