Journal of Pediatric Hematology/Oncology

A Perplexing Case of a Germ Cell Tumor: A Case Report

Germ cell tumors (GCTs) are associated with pure gonadal dysgenesis or Swyer syndrome. Swyer syndrome usually presents with primary amenorrhea, streak ovaries, and mixed GCT. However, our patient presented with secondary amenorrhea, normal female external genitalia, and a mixed GCT. Constitutional karyotype was suggestive of 46,XY. Management comprised chemotherapy, followed by surgery. Histopathology was suggestive of dysgerminoma complicating a gonadoblastoma. The purpose of reporting this case is its rarity and the importance of diagnosing an XY karyotype, as the incidence of GCTs is higher in these patients.

An Unusual Presentation of Sacrococcygeal Germ Cell Tumor With Autoimmune Hemolytic Anemia as a Paraneoplastic Syndrome

The tumors that induce autoimmune hemolytic anemia (AIHA) are usually hematological neoplasms such as malignant lymphoma and chronic lymphocytic leukemia. AIHA associated with germ cell tumors is very rare with literature limited to case reports with most of them reported with ovarian dermoid, which abated with the removal of the tumor. We report an unusual presentation of AIHA with malignant sacrococcygeal germ cell tumor in a 3-year-old child, which rapidly disappeared after the excision of a sacrococcygeal teratoma.

Pediatric Borderline Ovarian Tumors: A Retrospective Study of 15 Cases at a Single Institution

Borderline ovarian tumors (BOTs) are rare in pediatric populations and typically follow an indolent clinical course with few reported recurrences. Consequently, guidelines for pediatric BOT management are minimal. We retrospectively examined the management of 15 adolescent patients who underwent BOT resection at our institution over 14 years, with a specific focus on recurrence. Data collected include age, symptoms, tumor characteristics, laboratory markers, surgical management, staging, and follow-up. Fifteen patients with BOTs (median age: 16 y) presented with abdominal pain (67%), or distention (33%). Cancer antigen-125 marker was elevated in 10/13 patients. There were 11 (73%) tumors with serous and 4 (23%) with mucinous histology. Most received fertility-preserving surgery (93%) and disease stage was 1A in 7 (47%), 1B/1C in 5 (33%), and stage 2B or higher in 3 (20%) patients. Additional staging procedures, including peritoneal washings (73%), omentectomy (53%), and peritoneal biopsy (47%), varied in use. Four (27%) patients recurred, with 1 case of benign tumor, 1 BOT, and 2 serous carcinomas. Median patient follow-up was 45 months. BOTs can be successfully treated with fertility-preserving surgery but demonstrate a non-negligible rate of recurrence. We recommend surgical staging and posttreatment surveillance for all patients with BOT.

Growing Teratoma Syndrome After Chemotherapy For Ovarian Immature Teratoma

The management of ovarian immature teratoma (IT) presents several challenges. It occurs both in children and adults and therefore is managed by pediatric oncologists as well as adult and gynecologic oncologists. Treatment approach; however, varies significantly. Unlike pediatric patients in whom surgery is considered the mainstay of treatment, adult providers routinely prescribe postoperative chemotherapy. Management of recurrent IT can be challenging. Growing teratoma syndrome may occur after treatment of recurrent IT. We report the development and management of this phenomenon in a pediatric patient who had several recurrences of her IT.

Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor

Osteopoikilosis (OPK) is a rare, benign, asymptomatic bone disease causing dense bone lesions, which could be interpreted as bone metastasis. The symmetric distribution, lack of bone destruction, and location differentiate OPK from metastatic disease. It is essential to be aware of this benign condition to prevent diagnostic errors. We present the case of a 10-year-old female patient with the concurrent diagnosis of secreting mixed germ cell tumor with Yolk Salk Tumor compound and OPK. Physical examination disclosed an abdominal mass, and blood tests showed increased alfa-fetoprotein and human chorionic gonadotropin levels. Computed tomography revealed a pelvic tumor associated with multiple radiodense lesions distributed throughout the bone skeleton. Lesions were inactive on scintigraphy and FDG-PET. Pathology of the bone showed normal bone tissue and ruled out metastasis. The patient achieved complete remission after chemotherapy and surgery and remains in continued complete remission 28 months from diagnosis. The genetic analysis confirmed the LEMD3 germline mutation confirming OPK.

Sex Cord Stromal Tumors in Children and Adolescents: A First Report by The South African Children’s Cancer Study Group (1990-2015)

Objectives: Pediatric sex cord stromal tumors (SCSTs) are extremely rare and there are no reported data from Africa. The authors evaluated the outcomes of children and adolescents with biopsy-proven SCSTs in preparation for the introduction of a national protocol. Materials and Methods: Retrospective data were collated from 9 South African pediatric oncology units from January 1990 to December 2015. Kaplan-Meier analysis was performed to estimate overall survival (OS) and event-free survival. Results: Twenty-three patients were diagnosed with SCSTs, 3 male and 20 female individuals, during the study period. Histologies included 1 thecoma, 9 Sertoli-Leydig cell tumors, and 13 juvenile granulosa cell tumors. Stage I tumors predominated (n=14; 60.9%), with 2 stage II (8.7%), 5 stage III (21.7%), and 2 stage IV tumors (8.7%). The upfront resection rate was 91.3% with no reported surgical morbidity or mortality and an OS of 82.1%. Chemotherapy approaches were not standardized. Most children (81.8%), except 2, had recognized platinum-based regimens. Chemotherapy-related toxicity was minimal and acceptable. Assessment of glomerular filtration rate and audiology assessments were infrequent and not standardized. Three patients were lost to follow-up. Conclusions: Although the numbers in this cohort are small, this study represents the first national cohort in Africa. The 5-year OS of 82.1% was encouraging. Standardized management of rare tumors like SCSTs is critical to improve ensure OS and address potential long-term sequelae.

Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy

Frasier syndrome (FS) is a rare condition, caused by splice-site mutations of intron 9 in the Wilms’ tumor suppressor gene 1 (WT1 gene). The WT1 protein is essential for urogenital development and patients with 46XY karyotype present with female (FS type 1) or male phenotype, gonadal dysgenesis, progressive glomerulopathy, and high risk of gonadoblastoma. We describe a female patient with an IVS9+4C>T donor splice-site mutation, who underwent a preventive gonadectomy at the age of 6 years due to imaging findings of dysplastic gonads. The biopsy revealed bilateral gonadoblastoma, emphasizing the need for early gonadectomy in 46XY FS patients.

Follow-up Outcomes of Patients Presenting With Ovarian Masses in Childhood: A 15-Year Single-center Experience

Objective: Ovarian tumors in childhood are rare. This study aimed to examine the clinical characteristics of pediatric patients presenting with ovarian masses. Materials and Methods: A retrospective review of patient data was conducted for patients who presented to our clinic with an ovarian mass between 2009 and 2024. Results: The study included 85 patients treated for ovarian masses in our clinic. The mean age of the patients was 12.2±4.6 (range: 0 to 18) years. The mean size of malignant tumors was 12.1±7.2 cm, and that of benign tumors was 10.74±7 cm (P=0.43). On the basis of operation type, the mean tumor size in patients who underwent oophorectomy was 12.66±7.2 cm, compared with 8.59±6.15 cm in those with a cystectomy (P=0.017). Histopathologic examination reported 54.1% (n=46) of tumors as benign, 32.9% (n=31) as malignant, 5.9% (n=5) as borderline, and 3.5% (n=3) as non-neoplastic lesions. Germ cell tumors were the most common, constituting 67.1% (n=57) of cases, followed by epithelial tumors at 22.4% (n=19). Synchronous bilateral ovarian tumors were identified in 4 cases. Chemotherapy was administered to 32.9% (n=28) of the patients. The mean follow-up period was 45 (1 to 204) months. A recurrence was observed in 1 patient, followed up with a diagnosis of immature teratoma. Two patients (2.4%) died, 1 due to acute renal failure and the other due to sepsis. Conclusions: Ovarian tumors in childhood are rare and have high treatment success rates. Further research is needed to improve ovary-preserving surgical approaches and mitigate the side effects of chemotherapy.

Ovarian Mitotically Active Cellular Fibroma of Childhood

Ovarian fibromas, especially those of the mitotically active cellular subtype, are very rare in children; however, children with nevoid basal cell carcinoma syndrome (NBCCS) are prone to these neoplasms. We present a 12-year-old girl with an ovarian mitotically active cellular fibroma (MACF) with no personal or family history of NBCCS who underwent right salpingo-oophorectomy. We searched the English literature on pediatric ovarian MACF. To date, only 3 cases of MACF in children have been reported. We present a pediatric case that represents the youngest reported case of MACF thus far. Special attention is required to differentiate this tumor from its malignant mimics to avoid overtreatment, such as radical surgeries. Long-term follow-up and thorough investigation of the manifestations of hereditary cancer syndromes should be considered.

Ovarian Mucinous Carcinoma in a Pediatric Patient With Maroteaux-Lamy Syndrome

Mucopolysaccharidoses (MPS) are autosomal recessive lysosomal storage disorder (LSD). Mucinous ovarian cancer is a rare tumor and seldom encounters among adolescents. Here we describe an adolescent female with MPS type VI diagnosed with mucinous ovarian cancer. To our knowledge, this is the first case report of ovarian mucinous carcinoma in a patient with MPS. The association between MPS and cancer has never been described so far, but some LSD are known to have an increased risk of malignancies. The pathogenetic link between LSD and cancer is not well understood. Several potential mechanisms have been proposed for pathogenesis, which include chronic inflammation, abnormal function of activated macrophages, and genetic modifiers. Further studies are required, to understand the role of LSD in cancer.

A Report of a Case With Pediatric Ovarian Steroid Cell Tumor, Not Otherwise Specified, Found With Precocious Puberty

A 4-year-old girl was admitted to our hospital because of precocious puberty. Radiologic findings revealed a fist-sized solid tumor in the left ovary without ascites, peritoneal dissemination, and distant metastasis. The patient underwent left salpingo-oophorectomy without spillage. The size of the excised tumor was 10.0×9.0×4.8 cm. On pathologic examination, the tumor was diagnosed as an ovarian steroid cell tumor, not otherwise specified. In the present case, although the diameter of the tumor (>7 cm) and three mitoses per 10 high-power fields represented some potential for malignancy, we opted for careful observation without chemotherapy as the tumor was of clinical stage Ia.

The Surgical Procedure in the Case of Ovarian Lesion in Neonate

Background: In newborns and infants, ovarian lesions can be detected during ultrasound examination before or after birth. Malignant ovarian lesions account for <1% of malignancies in newborns. However, in case of doubt about the nature of the lesion, surgery with tissue collection for histopathologic evaluation should be considered with the absolute condition of fertility preservation. Observations: The aim of this publication was to describe a case report of a 3-day-old infant who presented an ovarian lesion on postnatal ultrasound, with features suggesting a malignant nature of the ovary. In the described case, laparoscopy and mini-laparotomy were performed, torsion was excluded. The ovary was preserved, and histopathologic examination excluded the malignant nature of the lesion. Conclusion: A detailed analysis of the clinical status, laboratory tests, and imaging studies is necessary before making a final decision on further therapeutic, especially surgical management of a newborn with an ovarian lesion.

Favorable Outcome of High-grade Endometrial Stromal Sarcoma in an Adolescent

High-grade endometrial stromal sarcoma is a rare and aggressive soft tissue tumor characterized by YWHAE::NUTM2A/B translocations, diagnosis at a median of 50-60 years, and a poor prognosis (overall survival 30%-40%). We describe a 16-year-old patient with high-grade endometrial stromal sarcoma and regional nodal and pulmonary metastases who is a long-term survivor after grossly complete tumor resection, intensive chemotherapy, and pelvic radiotherapy. We discovered a previously undescribed YWHAE::NUTM2E translocation in the tumor. Our patient’s favorable outcome suggests that intensive multimodality therapy with curative intent is appropriate for young patients with high-grade endometrial stromal sarcoma and highlights the importance of fertility preservation.