H. G. Schlumbergerによる前縦隔奇形腫に関する先駆的研究：最新の知見と現代的文脈

In April 1946, Archives of Pathology published H. G. Schlumberger's seminal study on anterior mediastinal (AM) teratomas that provided insights into the clinical behavior, pathologic features, and pathogenesis of these enigmatic neoplasms.

To review key points of Schlumberger's study, add more recent information, discuss the different types of mediastinal teratoma and germ cell tumors (GCTs), and consider the origin of the neoplasms.

Schlumberger's article, PubMed-indexed articles on the topic, and personal observations.

Pure teratomas of the AM in children are benign type I GCTs that may dedifferentiate to yolk sac tumor, possibly from embryonic-type neuroectoderm. Mature teratomas in postpubertal patients, comprising ∼95% of GCTs in females but only ∼30% in males, are hybrid type I and type IV teratomas. Such cases show organoid structures and benign cytology. They derive from nontransformed germ cells and lack metastatic potential. Immaturity does not alter the outcome in children. In contrast, many teratomas in postpubertal males are type II GCTs, derived from malignantly transformed germ cells that initially form a primitive GCT, with subsequent teratomatous differentiation. These teratomas, consequently, are components of mixed GCTs and show cytogenetic abnormalities, including overrepresentation of chromosome arm 12p. They are cytologically atypical and less commonly organoid; their most frequent associated GCT is yolk sac tumor, which may be the source of somatic-type malignancies of type II AM GCTs, especially the virtually uniquely associated hematologic malignancies and vascular neoplasms of GCT origin. All AM GCTs are believed to derive from mismigrated germ cells.