Dosing challenges for chemotherapy and immunotherapy in congenital achondroplasia: a case report and literature review

Karolijn W M Groot Beumer; E M J Durlinger; S W J Zielhuis; R Ter Heine; A D R Huitema; J J M A Hendrikx

doi:10.1007/s00280-026-04932-7

Dosing challenges for chemotherapy and immunotherapy in congenital achondroplasia: a case report and literature review

Karolijn W M Groot Beumer^*
, E M J Durlinger
, S W J Zielhuis
, R Ter Heine
, A D R Huitema
, J J M A Hendrikx

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

Abstract

INTRODUCTION: Currently, no established guidelines exist for dosing chemotherapy or immunotherapy in patients with achondroplasia.

CASE: A 69-year old female with congenital achondroplasia was diagnosed with stage IV non-small cell lung carcinoma type adenocarcinoma, with high Tumor Mutational Burden and 20% programmed death-ligand 1 expression. The patient received carboplatin dose based on renal function utilizing measured creatinine clearance, pemetrexed based on body surface area and pembrolizumab at a fixed dose of 100mg for body weight <65 kg. The doses of carboplatin and pemetrexed were adjusted after the first cycle based on therapeutic drug monitoring (TDM). The treatment was generally well tolerated, with the exception of grade 2 neutropenia, which resolved after a one-week delay of the third treatment cycle. A favorable clinical response was achieved after four treatment cycles.

CONCLUSION: Given the uncertainty regarding the accuracy of dosing algorithms in patients with congenital achondroplasia, TDM may support dose optimization and attainment of adequate drug exposure.

Original language	English
Article number	82
Journal	Cancer chemotherapy and pharmacology
Volume	96
Issue number	1
DOIs	https://doi.org/10.1007/s00280-026-04932-7
Publication status	Published - 3 Aug 2026

Keywords

Humans
Female
Achondroplasia/drug therapy
Lung Neoplasms/drug therapy
Carboplatin/administration & dosage
Antineoplastic Combined Chemotherapy Protocols/administration & dosage
Aged
Drug Monitoring/methods
Pemetrexed/administration & dosage
Antibodies, Monoclonal, Humanized/administration & dosage
Immunotherapy/methods
Carcinoma, Non-Small-Cell Lung/drug therapy
Dose-Response Relationship, Drug

Access to Document

10.1007/s00280-026-04932-7Licence: CC BY

s00280-026-04932-7Final published version, 750 KBLicence: CC BY

Cite this

@article{0afc80e9b191450ea88fc2f9b89d2bcf,

title = "Dosing challenges for chemotherapy and immunotherapy in congenital achondroplasia: a case report and literature review",

abstract = "INTRODUCTION: Currently, no established guidelines exist for dosing chemotherapy or immunotherapy in patients with achondroplasia.CASE: A 69-year old female with congenital achondroplasia was diagnosed with stage IV non-small cell lung carcinoma type adenocarcinoma, with high Tumor Mutational Burden and 20\% programmed death-ligand 1 expression. The patient received carboplatin dose based on renal function utilizing measured creatinine clearance, pemetrexed based on body surface area and pembrolizumab at a fixed dose of 100mg for body weight <65 kg. The doses of carboplatin and pemetrexed were adjusted after the first cycle based on therapeutic drug monitoring (TDM). The treatment was generally well tolerated, with the exception of grade 2 neutropenia, which resolved after a one-week delay of the third treatment cycle. A favorable clinical response was achieved after four treatment cycles.CONCLUSION: Given the uncertainty regarding the accuracy of dosing algorithms in patients with congenital achondroplasia, TDM may support dose optimization and attainment of adequate drug exposure.",

keywords = "Humans, Female, Achondroplasia/drug therapy, Lung Neoplasms/drug therapy, Carboplatin/administration \& dosage, Antineoplastic Combined Chemotherapy Protocols/administration \& dosage, Aged, Drug Monitoring/methods, Pemetrexed/administration \& dosage, Antibodies, Monoclonal, Humanized/administration \& dosage, Immunotherapy/methods, Carcinoma, Non-Small-Cell Lung/drug therapy, Dose-Response Relationship, Drug",

author = "\{Groot Beumer\}, \{Karolijn W M\} and Durlinger, \{E M J\} and Zielhuis, \{S W J\} and \{Ter Heine\}, R and Huitema, \{A D R\} and Hendrikx, \{J J M A\}",

note = "{\textcopyright} 2026. The Author(s).",

year = "2026",

month = aug,

day = "3",

doi = "10.1007/s00280-026-04932-7",

language = "English",

volume = "96",

journal = "Cancer chemotherapy and pharmacology",

issn = "0344-5704",

publisher = "Springer Science and Business Media Deutschland GmbH",

number = "1",

}

TY - JOUR

T1 - Dosing challenges for chemotherapy and immunotherapy in congenital achondroplasia

T2 - a case report and literature review

AU - Groot Beumer, Karolijn W M

AU - Durlinger, E M J

AU - Zielhuis, S W J

AU - Ter Heine, R

AU - Huitema, A D R

AU - Hendrikx, J J M A

PY - 2026/8/3

Y1 - 2026/8/3

N2 - INTRODUCTION: Currently, no established guidelines exist for dosing chemotherapy or immunotherapy in patients with achondroplasia.CASE: A 69-year old female with congenital achondroplasia was diagnosed with stage IV non-small cell lung carcinoma type adenocarcinoma, with high Tumor Mutational Burden and 20% programmed death-ligand 1 expression. The patient received carboplatin dose based on renal function utilizing measured creatinine clearance, pemetrexed based on body surface area and pembrolizumab at a fixed dose of 100mg for body weight <65 kg. The doses of carboplatin and pemetrexed were adjusted after the first cycle based on therapeutic drug monitoring (TDM). The treatment was generally well tolerated, with the exception of grade 2 neutropenia, which resolved after a one-week delay of the third treatment cycle. A favorable clinical response was achieved after four treatment cycles.CONCLUSION: Given the uncertainty regarding the accuracy of dosing algorithms in patients with congenital achondroplasia, TDM may support dose optimization and attainment of adequate drug exposure.

AB - INTRODUCTION: Currently, no established guidelines exist for dosing chemotherapy or immunotherapy in patients with achondroplasia.CASE: A 69-year old female with congenital achondroplasia was diagnosed with stage IV non-small cell lung carcinoma type adenocarcinoma, with high Tumor Mutational Burden and 20% programmed death-ligand 1 expression. The patient received carboplatin dose based on renal function utilizing measured creatinine clearance, pemetrexed based on body surface area and pembrolizumab at a fixed dose of 100mg for body weight <65 kg. The doses of carboplatin and pemetrexed were adjusted after the first cycle based on therapeutic drug monitoring (TDM). The treatment was generally well tolerated, with the exception of grade 2 neutropenia, which resolved after a one-week delay of the third treatment cycle. A favorable clinical response was achieved after four treatment cycles.CONCLUSION: Given the uncertainty regarding the accuracy of dosing algorithms in patients with congenital achondroplasia, TDM may support dose optimization and attainment of adequate drug exposure.

KW - Humans

KW - Female

KW - Achondroplasia/drug therapy

KW - Lung Neoplasms/drug therapy

KW - Carboplatin/administration & dosage

KW - Antineoplastic Combined Chemotherapy Protocols/administration & dosage

KW - Aged

KW - Drug Monitoring/methods

KW - Pemetrexed/administration & dosage

KW - Antibodies, Monoclonal, Humanized/administration & dosage

KW - Immunotherapy/methods

KW - Carcinoma, Non-Small-Cell Lung/drug therapy

KW - Dose-Response Relationship, Drug

U2 - 10.1007/s00280-026-04932-7

DO - 10.1007/s00280-026-04932-7

M3 - Review article

C2 - 42545505

SN - 0344-5704

VL - 96

JO - Cancer chemotherapy and pharmacology

JF - Cancer chemotherapy and pharmacology

IS - 1

M1 - 82

ER -

Dosing challenges for chemotherapy and immunotherapy in congenital achondroplasia: a case report and literature review

Abstract

Keywords

Access to Document

Fingerprint

Cite this