---
title: "Chemotherapy and Immunotherapy Dosing in Congenital Achondroplasia: Case Report and Review"
id: "pubmed-42545505"
canonical_url: "https://medichelpline.com/clinical-feed/pubmed-42545505"
content_type: "clinical_feed_article"
specialty: "Oncology"
source_name: "PubMed / NCBI"
source_url: "https://pubmed.ncbi.nlm.nih.gov/42545505/"
doi: "10.1007/s00280-026-04932-7"
published_at: "2026-08-03T00:00:00.000Z"
evidence_level: "Journal Article"
license: "CC-BY-NC-4.0 / Informational Use"
---
# Chemotherapy and Immunotherapy Dosing in Congenital Achondroplasia: Case Report and Review
## Provenance & Clinical Metadata
- **Canonical URL:** https://medichelpline.com/clinical-feed/pubmed-42545505
- **Specialty:** [Oncology](https://medichelpline.com/clinical-feed/oncology.md)
- **Primary Source:** PubMed / NCBI
- **Source URL:** [Original Journal Publication](https://pubmed.ncbi.nlm.nih.gov/42545505/)
- **DOI:** [10.1007/s00280-026-04932-7](https://doi.org/10.1007%2Fs00280-026-04932-7)
- **Published At:** 2026-08-03T00:00:00.000Z
- **Evidence Rating:** Journal Article
## Executive GIST (TL;DR)
- The article reports a case of a 69-year-old woman with congenital **achondroplasia** diagnosed with stage IV non-small cell lung cancer (adenocarcinoma) with high tumor mutational burden and 20% PD-L1 expression. - There are no established dosing guidelines for chemotherapy or immunotherapy in patients with achondroplasia; standard algorithms may be inaccurate for this population. - Initial treatment combined carboplatin, pemetrexed, and pembrolizumab: carboplatin dosed with the Calvert approach using measured creatinine clearance, pemetrexed dosed by body surface area, and pembrolizumab given as a fixed 100 mg dose because body weight was <65 kg. - **Therapeutic drug monitoring (TDM)** was performed and used to adjust doses of carboplatin and pemetrexed after the first cycle to optimize exposure. - Treatment was generally tolerated; the patient experienced grade 2 neutropenia that resolved after delaying the third cycle by one week. - After four cycles, the patient achieved a favorable clinical response. - The authors conclude that **TDM** can support dose optimization in achondroplasia given uncertainty about the accuracy of standard dosing algorithms in this congenital condition. - Conflict of interest: authors declared no competing interests. Informed consent was obtained from the patient. Ethics approval not applicable. - Keywords and focal areas include **achondroplasia**, chemotherapy, immunotherapy, **NSCLC**, carboplatin, pemetrexed, pembrolizumab, and **therapeutic drug monitoring**.
## Clinical Analysis & Structured Key Points
Dosing challenges for chemotherapy and immunotherapy in congenital achondroplasia: a case report and literature review - PubMed This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features! Clipboard, Search History, and several other advanced features are temporarily unavailable. Skip to main page content The .gov means it’s official. Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site. The site is secure. The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely. Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation Search: Search Advanced Clipboard User Guide Save Email Send to Clipboard My Bibliography Collections Citation manager Display options Display options Format Abstract PubMed PMID Save citation to file Format: Summary (text) PubMed PMID Abstract (text) CSV Create file Cancel Email citation Email address has not been verified. Go to My NCBI account settings to confirm your email and then refresh this page. To: Subject: Body: Format: Summary Summary (text) Abstract Abstract (text) MeSH and other data Send email Cancel Add to Collections Create a new collection Add to an existing collection Name your collection: Name must be less than 100 characters Choose a collection: Unable to load your collection due to an error Please try again Add Cancel Add to My Bibliography My Bibliography Unable to load your delegates due to an error Please try again Add Cancel Your saved search Name of saved search: Search terms: Test search terms Would you like email updates of new search results? Saved Search Alert Radio Buttons Yes No Email: ( change ) Frequency: Monthly Weekly Daily Which day? The first Sunday The first Monday The first Tuesday The first Wednesday The first Thursday The first Friday The first Saturday The first day The first weekday Which day? Sunday Monday Tuesday Wednesday Thursday Friday Saturday Report format: Summary Summary (text) Abstract Abstract (text) PubMed Send at most: 1 item 5 items 10 items 20 items 50 items 100 items 200 items Send even when there aren't any new results Optional text in email: Save Cancel Create a file for external citation management software Create file Cancel Your RSS Feed Name of RSS Feed: Number of items displayed: 5 10 15 20 50 100 Create RSS Cancel RSS Link Copy Actions Cite Collections Add to Collections Create a new collection Add to an existing collection Name your collection: Name must be less than 100 characters Choose a collection: Unable to load your collection due to an error Please try again Add Cancel Permalink Permalink Copy Display options Display options Format Abstract PubMed PMID Cite Display options Display options Format Abstract PubMed PMID 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: Achondroplasia; Case report; Chemotherapy; Immunotherapy; NSCLC; Therapeutic drug monitoring. © 2026. The Author(s). PubMed Disclaimer Conflict of interest statement Declarations. Ethics approval: Ethics approval is not applicable. Conflict of interest: KWMGB, ED, SWJZ, RTH, ADRH and JJMAH declare that they have no competing interests. Informed consent: Informed consent was obtained from the patient. References Horton WA, Hall JG, Hecht JT (2007) Achondroplasia. Lancet 370(9582):162–172. https://doi.org/10.1016/s0140-6736(07)61090-3 - DOI - PubMed Ornitz DM, Legeai-Mallet L (2017) Achondroplasia: Development, pathogenesis, and therapy. Dev Dyn 246(4):291–309. https://doi.org/10.1002/dvdy.24479 - DOI - PubMed - PMC Foreman PK, van Kessel F, van Hoorn R, van den Bosch J, Shediac R, Landis S (2020) Birth prevalence of achondroplasia: A systematic literature review and meta-analysis. Am J Med Genet A 182(10):2297–2316. https://doi.org/10.1002/ajmg.a.61787 - DOI - PubMed - PMC Gandhi L, Rodríguez-Abreu D, Gadgeel S, Esteban E, Felip E, De Angelis F et al (2018) Pembrolizumab plus Chemotherapy in Metastatic Non-Small-Cell Lung Cancer. N Engl J Med 378(22):2078–2092. https://doi.org/10.1056/NEJMoa1801005 - DOI - PubMed van Warmerdam LJ, Rodenhuis S, ten Bokkel Huinink WW, Maes RA, Beijnen JH (1995) The use of the Calvert formula to determine the optimal carboplatin dosage. J Cancer Res Clin Oncol 121(8):478–486. https://doi.org/10.1007/bf01218365 - DOI - PubMed - PMC Show all 32 references Publication types Case Reports Actions Search in PubMed Search in MeSH Add to Search Review Actions Search in PubMed Search in MeSH Add to Search MeSH terms Achondroplasia* / complications Actions Search in PubMed Search in MeSH Add to Search Achondroplasia* / drug therapy Actions Search in PubMed Search in MeSH Add to Search Aged Actions Search in PubMed Search in MeSH Add to Search Antibodies, Monoclonal, Humanized / administration & dosage Actions Search in PubMed Search in MeSH Add to Search Antineoplastic Combined Chemotherapy Protocols* / administration & dosage Actions Search in PubMed Search in MeSH Add to Search Antineoplastic Combined Chemotherapy Protocols* / adverse effects Actions Search in PubMed Search in MeSH Add to Search Antineoplastic Combined Chemotherapy Protocols* / therapeutic use Actions Search in PubMed Search in MeSH Add to Search Carboplatin / administration & dosage Actions Search in PubMed Search in MeSH Add to Search Carcinoma, Non-Small-Cell Lung* / drug therapy Actions Search in PubMed Search in MeSH Add to Search Carcinoma, Non-Small-Cell Lung* / pathology Actions Search in PubMed Search in MeSH Add to Search Dose-Response Relationship, Drug Actions Search in PubMed Search in MeSH Add to Search Drug Monitoring / methods Actions Search in PubMed Search in MeSH Add to Search Female Actions Search in PubMed Search in MeSH Add to Search Humans Actions Search in PubMed Search in MeSH Add to Search Immunotherapy / methods Actions Search in PubMed Search in MeSH Add to Search Lung Neoplasms* / drug therapy Actions Search in PubMed Search in MeSH Add to Search Lung Neoplasms* / pathology Actions Search in PubMed Search in MeSH Add to Search Pemetrexed / administration & dosage Actions Search in PubMed Search in MeSH Add to Search Substances Carboplatin Actions Search in PubMed Search in MeSH Add to Search Pemetrexed Actions Search in PubMed Search in MeSH Add to Search Antibodies, Monoclonal, Humanized Actions Search in PubMed Search in MeSH Add to Search pembrolizumab Actions Search in PubMed Search in MeSH Add to Search [x] Cite Copy Download .nbib .nbib Format: AMA APA MLA NLM Send To Clipboard Email Save My Bibliography Collections Citation Manager [x] NCBI Literature Resources MeSH PMC Bookshelf Disclaimer The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). 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