Abstract
Patients with constitutional mismatch repair deficiency syndrome
(CMMRD) usually develop multiple tumors at a young age. Chemotherapy
was previously shown to be less effective in these tumors. Recent reports
suggest immunotherapeutic treatment in CMMRD-associated tumors. Here,
we present a CMMRD patient, successfully treated with immunotherapy
for metastasized colorectal cancer (CRC). A young adolescent male was
diagnosed with T2N2M1 cecum carcinoma with liver metastases. He
received four initial doses of nivolumab (3 mg/kg) with ipilimumab (1 ml/
kg) every three weeks, followed by 41 doses of nivolumab alone every two
weeks. A complete response was achieved; also pathological assessment
of removed liver metastases was indicative of a complete response. At
the time of writing, 14 months after end of treatment, the CRC had not
recurred. Immunotherapeutic treatment resulted in a complete response of
the primary CRC and metastases. Immunotherapy as first line treatment
should be strongly considered in treatment of CMMRD-associated CRCs
(CMMRD) usually develop multiple tumors at a young age. Chemotherapy
was previously shown to be less effective in these tumors. Recent reports
suggest immunotherapeutic treatment in CMMRD-associated tumors. Here,
we present a CMMRD patient, successfully treated with immunotherapy
for metastasized colorectal cancer (CRC). A young adolescent male was
diagnosed with T2N2M1 cecum carcinoma with liver metastases. He
received four initial doses of nivolumab (3 mg/kg) with ipilimumab (1 ml/
kg) every three weeks, followed by 41 doses of nivolumab alone every two
weeks. A complete response was achieved; also pathological assessment
of removed liver metastases was indicative of a complete response. At
the time of writing, 14 months after end of treatment, the CRC had not
recurred. Immunotherapeutic treatment resulted in a complete response of
the primary CRC and metastases. Immunotherapy as first line treatment
should be strongly considered in treatment of CMMRD-associated CRCs
| Original language | English |
|---|---|
| Journal | Journal of Cancer Science and Clinical Therapeutics |
| DOIs | |
| Publication status | Published - 15 Dec 2022 |
