Introduction Two types of testicular teratomas are distinguished by the current WHO classification. Prepubertal-type teratomas are benign, while postpubertal-type teratomas are considered malignant with metastatic potential, and are associated with germ cell neoplasia in situ. Prepubertal-type cases have been reported in the adult testis potentially causing confusion and overtreatment. Demonstration of the absence of 12p abnormalities with fluorescence in situ hybridization may facilitate diagnosis. Recently, IMP3 has emerged as a potential marker of malignancy in this context. Aims The aim of this study was to assess histological characteristics, IMP3 expression and the presence of 12p abnormalities of pure testicular teratomas. Results Thirty-seven cases were studied, 7 patients were children and 30 were adults. Six out of 7 pediatric cases showed no 12p abnormality and were IMP3 positive. Seventy-four percent and 79% of adult cases showed 12p abnormalities and IMP3 expression, respectively. Negative cases were not associated with in situ neoplasia or metastasis, they were smaller (mean, 14 vs 39 mm), showed less histological diversity (2.4 vs 4.0 types of tissues on average) compared to positive cases. Conclusion Our study provides further evidence that prepubertal-type (type I) teratomas may appear in adult testes, thus teratomas in adults may be either benign (type I) or malignant (type II). IMP3 expression may aid the distinction between type I and type II teratomas of the postpubertal testis even when GCNIS and 12p status cannot be assessed.
Összefoglaló. A Magyar Hematológiai és Transzfuziológiai Társaság (MHTT) Onkohematológiai Molekuláris Diagnosztikai Munkacsoportja öt egyetemi és országos onkohematológiai centrumban 2018 és 2020 között 2261 krónikus limfocitás leukémiában (CLL) szenvedő beteg immunglobulin nehézláncgénjének (IGHV-) vizsgálatát végezte el a rutindiagnosztika keretében, jelen írásunkban ezen eredményeket foglaljuk össze. A vizsgált minták 53,5%-a bizonyult nem mutált immunglobulin nehézlánccal rendelkező CLL-nek, mutált immunglobulint az esetek 41,6%-ában detektáltunk. Az átrendeződött immunglobulin-szekvenciákat 11%-ban tudtuk valamelyik CLL alcsoportba („subset”) besorolni, melyek közül a CLL#2, a CLL#1, a CLL#6, CLL#4, CLL#3 és a CLL#5 alcsoport bizonyult a leggyakoribbnak. A szerzők kiemelik, hogy az elmúlt évek fejlesztéseinek köszönhetően valamennyi hazai onkohematológiai diagnosztikus laboratóriumban elérhető a nemzetközi ajánlások alapján kivitelezett IGHV-mutáció-analízis. Summary. The Hungarian Society of Hematology and Transfusiology’s Molecular Oncohematological Diagnostic Workgroup analyzed the mutational status of the immunoglobulin gene heavy chain region in 2261 CLL patient between 2018 and 2020 in five Hungarian oncohematological center. In this cohort 53.5% of the cases proved to have unmutated immunoglobulin gene, meanwhile mutated cases represented 41.6% of the entire cohort. We detected stereotype subsets in 11%, of which CLL#2, CLL#1, CLL#6, CLL#4, CLL#3, and CLL#5 were the most common. The authors highlight that collaborative efforts during the last few years lead to availability of the IGHV mutation analysis in the Hungarian diagnostic oncohematology laboratories as recommended by international standards.
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