Severe immunochemotherapy-induced toxicities in a patient with dyskeratosis congenita and literature review

Figures & data

Figure 1. Chest CT images showing the dynamic changes in interstitial lung disease. A: on the 2^nd day; B: on the 9th day; C: before discharge.

Table 1. The literature review of severe therapy-induced toxicities in DC patients.

Reference	Age/Sex	Mutated gene	Malignancy	Therapy strategies	Toxicities	Outcome and Prognosis
Jennifer E. Agrusa et al. 2019[12]	17/F	TERT	Nodular sclerosing classical HL	doxorubicin, bleomycin, vincristine, etoposide, prednisone, and cyclophosphamide	Neutropenia; Oral and vaginal mucositis; Peripheral sensory and motor neuropathy; Capillary leak syndrome.	The patient was in remission. However, she had nail dysplasia, lung diffusion defect, and early bone marrow failure after chemotherapy.
Keishi Nakamura et al. 2019[13]	27/M	DKC1	Rectal cancer	Immunochemotherapy with cetuximab and OK-432	Skin rash; Pneumothorax; Pleural adhesion; Interstitial pneumonia; Respiratory failure;	Death
Michael F. Walsh et al. 2019[14]	55/F	TERT	Breast cancer	Radiation therapy	Radiation pneumonitis; Refractory cytopenia	Not available
Akiko Sadamoto et al. 1999[15]	20/F	Not available	Tongue cancer	Radiation therapy	Severe radiation mucositis	The patient died of recurrence 8 months postoperatively.

Agrusa JE, Bertuch AA, DiNardo CD, et al. Severe therapy-related toxicities after treatment for Hodgkin lymphoma due to a pathogenic TERT variant and shortened telomeres. Pediatr Blood Cancer. 2019;66:e27779. PMID: 31050187 DOI: 10.1002/pbc.27779

 PubMed Web of Science ®Google Scholar

Nakamura K, Terai S, Ohbatake Y, et al. [A Case of Stage ⅣRectal Cancer with Dyskeratosis Congenita]. Gan To Kagaku Ryoho. 2019;46:515–517.

 PubMedGoogle Scholar

Walsh MF, Sacca R, Wildman T, et al. Pathogenic Loss-of-Function Germline TERT Mutations in Patients With Solid Tumors. JCO Precision Oncology. 2019;3:1–5. doi:10.1200/PO.19.00230

 Google Scholar

Sadamoto A, Hyodo M, Hinohira Y, et al. A Case of Dyskeratosis Congenita Complicated by Tongue Cancer. Pract Otorhinolaryngol (Basel). 1999;92(3):253–257.

 Google Scholar

Data Availability Statement

The data generated during and/or analysed during the current study are available from the corresponding author on reasonable request.