Case report: Extragonadal mixed germ cell tumor in the thigh.
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ABSTRACT:
SUBMITTER: Alhamss S
PROVIDER: S-EPMC5724990 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
Publications
Case report: Extragonadal mixed germ cell tumor in the thigh.
Alhamss Sohaib S Al-Halbouni Layana L Al-Qasem Khloud K Al-Daghmin Ali A
Urology case reports 20171126
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Project description:The estimated incidence of pediatric testis tumor is 0.5-2.0 per 100,000 children, accounting for 1-2% of all pediatric tumors. Mixed germ cell tumors (MGCT) in prepubertal males are exceedingly rare, with only one previous case report found in the literature. We report a case of a MGCT in an infant. For prepubertal males, GCTs typically present with a painless scrotal mass, though trauma, testis torsion and hydrocele are also common presentations. Similar to such tumors in postpubertal males, ultrasonography, computed tomography, and tumor markers are integral to determine the best treatment. The patient described in this report presented with a painless scrotal mass. Following orchiectomy, the patient was found to have MGCT that was limited to the testis. With prudent management, these patients tend to have favorable prognoses.
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Project description:Germ cell tumors (GCTs) often occur in male testes and female ovaries. Extragonadal GCTs account for approximately 2% to 5% of all GCTs and mainly occur in the mediastinum, retroperitoneum, and pineal gland. In this study, we reported a rare case of gastric adenocarcinoma with GCT components. The patient's serum α-fetoprotein (AFP) level was higher than normal. Abdominal computed tomography (CT) showed a 10-cm × 10-cm tumor between the spleen and the bottom of the stomach. Gastric endoscopy indicated an ulcerative lesion extending from the bottom of the stomach to the antrum. Tissue biopsy identified the tumor as an adenocarcinoma. The patient underwent abdominal tumor resection, subtotal gastrectomy, D2 lymphadenectomy, and splenectomy. Postoperative histopathology showed that the tumor was a moderately to poorly differentiated adenocarcinoma. Immunohistochemistry analysis revealed positive staining for AFP, glypican-3, and placental alkaline phosphatase. Gastric adenocarcinoma with GCT components is particularly uncommon and rarely reported. Elevated serum AFP and/or β-human chorionic gonadotropin levels, abdominal CT, histopathology, and immunohistochemistry may help diagnose GCTs. Radical surgery resection is the primary treatment method for GCTs. Adjuvant chemotherapy and radiotherapy are effective for advanced GCTs.
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Project description:BackgroundMast cell leukemia (MCL) is a highly life-threatening and extremely rare subtype of systemic mastocytosis (SM). MCL often genetically contains one or more somatic mutations, particularly activating mutations of KIT. This study reported on an acute MCL patient who had a rare phenotype and genetic mutants with a history of primary malignant mediastinal germ cell tumor (GCT).Case presentationA 30-year-old Asian male patient who underwent two rounds of surgery and chemotherapy with a history of primary mediastinal GCT (PM-GCTs) was admitted to our hospital due to persistent chest pain and severe fatigue. The diagnosis of acute MCL was confirmed via morphology analysis and chemical staining of marrow aspirate, as well as via marrow biopsy, with the addition of C-findings that included splenomegaly and cytopenia. The atypical MCs were phenotypically positive for CD117 and CD9 but weakly positive for CD2 and negative for CD25. Next-generation sequencing of the marrow aspirate identified heterozygous mutations in TP53 P301Qfs*44, FLT3 R973X, SETBP1 N272D, and JAK3 I688F, whereas mutations in KIT were not found. Although the initial therapy of corticosteroids, ruxolitinib, and dasatinib-based regimens was effective, he died of acute respiratory distress syndrome after the first cycle of chemotherapy with cladribine and cytarabine. The patient's survival time was 2.4 months after the initial presentation of MCL.ConclusionIn this case, MCL preceded by PM-GCTs had similar clinical symptoms and morphological manifestations but distinctly different genetic profiles than primary MCL. The characteristic morphology of MCL provides the most pivotal evidence that led our diagnosis in the correct direction. A competing hypothesis is that there is a common embryonal cancer stem cell between PM-GCTs and secondary MCL, and the latter is gradually developed in the context of additional "driver mutations".
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