Fontaine B, Sanson M, Delattre O, Menon A G, Rouleau G A, Seizinger B R, Jewell A F, Hanson M P, Aurias A, Martuza R L
Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown 02129.
Genomics. 1991 May;10(1):280-3. doi: 10.1016/0888-7543(91)90513-e.
It has recently been proposed that the maternally derived chromosome might be preferentially lost in nonfamilial cases of embryonal or early onset malignant tumors. This observation pointed to a potential role of the parental imprinting of the genome during gametogenesis which would be at least partly maintained in the somatic cells. Neuromas are benign tumors that develop from Schwann cells. They occur either sporadically or in individuals that have a genetic predisposition due to neurofibromatosis type 2 (NF2) and usually are multiple. Regardless of the context of occurrence, in approximately 40% of the investigated cases a loss of a chromosome 22 has been documented either by karyotype analysis or by monitoring somatic loss of heterozygosity. We have now examined the parental origin of the chromosome 22 lost in 19 cases of neuromas of patients with unaffected parents among which 11 were non-NF2 patients (sporadic and unique neuroma) and 8 were NF2 patients (bilateral acoustic or multiple neuromas). In both sets of tumors, the lost chromosome 22 can be of either parental origin. A close to threefold preference for the loss of the maternally derived chromosome was observed and should be either confirmed or disproved by studying a larger number of patients.
最近有人提出，在胚胎性或早发性恶性肿瘤的非家族性病例中，母源染色体可能会优先丢失。这一观察结果表明，基因组在配子发生过程中的亲本印记可能具有潜在作用，这种印记至少在体细胞中会部分保留。神经瘤是由施万细胞发展而来的良性肿瘤。它们要么散发性出现，要么出现在因2型神经纤维瘤病（NF2）而具有遗传易感性的个体中，通常是多发性的。无论发生背景如何，在大约40%的被调查病例中，通过核型分析或监测杂合性的体细胞丢失，都记录到了22号染色体的丢失。我们现在检查了19例父母未受影响的患者的神经瘤中丢失的22号染色体的亲本来源，其中11例是非NF2患者（散发性和单发神经瘤），8例是NF2患者（双侧听神经瘤或多发性神经瘤）。在这两组肿瘤中，丢失的22号染色体可以来自任何一方亲本。观察到母源染色体丢失的偏好接近三倍，这一结果应通过研究更多患者来证实或证伪。
