Two cases of uterine cervical cancer cell transmission from mother to child during vaginal delivery were reported in the New England Journal of Medicine.1

“The transmission was demonstrated by the fact that the tumors in both male children lacked the Y chromosome and shared multiple somatic mutations, a HPV genome, and SNP alleles (which were not inherited in the children’s germline) with tumors from the mothers,” the study authors wrote.

Previous cases of mother-to-infant cancer transmission have been documented, but this phenomenon is rare, occurring in approximately 1 infant per 500,000 mothers with cancer. Based on these 2 reported cases of transmission, Arakawa et al postulated that “mother-to-infant transmission of tumor may be a risk of vaginal delivery among women with cervical tumors.”

The report documents 2 cases of pediatric lung cancers that were believed to have developed as a result of mother-to-infant transmission during vaginal birth from mothers with cervical carcinoma. The cases were incidentally identified during a next-generation sequencing (NGS) analysis of matched normal and tumor tissue for a hospital-based prospective study.2


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The first case was seen in a 23-month-old boy who presented with a 2-week history of cough. Computed tomography (CT) imaging demonstrated bilateral masses scattered among the bronchi in both lungs. Neuroendocrine carcinoma of the lung with focal glandular differentiation was identified by biopsy. Although the mother had a negative cervical cytologic test 7 months prior to the child’s birth, she received a diagnosis of squamous cell carcinoma of the cervix 3 months after the infant’s birth.

The child began treatment at 3 years of age; some lesions responded and others progressed with chemotherapy. Lung, liver, and bone metastases developed in the mother during the 3-years follow-up period after her last treatment. They were biopsied and found to be a result of poorly differentiated carcinoma with neuroendocrine differentiation. Re-examination of her hysterectomy specimen demonstrated poorly differentiated squamous cell carcinoma with focal neuroendocrine differentiation admixed with adenocarcinoma.

“This histologic picture was similar to the tumor in her lung as well as that in her son’s lung,” the study authors wrote. NGS testing demonstrated that the gene of the mother’s and the child’s tumors were similar, confirming transmission of the maternal tumor.

The second case involved a 6-year-old boy who presented with left-sided chest pain. CT imaging demonstrating a 6-cm mass in the left hilar region. The child was diagnosed with mucinous adenocarcinoma. During pregnancy, the mother had been diagnosed with a stable cervical polypoid tumor, but had a negative cervical cytologic analysis. Following birth of the child, biopsy of the cervical lesion demonstrated adenocarcinoma.

The child was treated with chemotherapy and had a partial response. After recurrence, the child underwent additional chemotherapy and total left pneumonectomy. The pathology of the tumor was mucinous adenocarcinoma, which was similar to that of the mother’s cervical tumor.

The gene profiles of both the mother’s and child’s tumor specimens (as determined by NGS) were similar and included the same KRAS mutation. Both tumors were also positive for human papillomavirus type 16.

The authors concluded that “NGS of paired samples of tumor and normal tissue may be a useful tool to diagnose cancer that is transmitted from mothers to infants and to understand the prevalence of this transmission.”

Disclosures: Some of the report authors disclosed financial relationships with the pharmaceutical industry and/or the medical device industry. For a full list of disclosures, please refer to the original report.

References

  1. Arakawa A, Ichikawa H, Kubo T, et al. Vaginal transmission of cancer from mothers with cervical cancer to infants. N Engl J Med. 2021;384(1):42-50. doi:10.1056/NEJMoa2030391
  2. Sunami K, Ichikawa H, Kubo T, et al. Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study. Cancer Sci. 2019;110(4):1480-1490. doi:10.1111/cas.13969