Discussion
Xeroderma Pigmentosum is an unusual autosomal recessive genetic skin
condition caused by nucleotide excision repair mutations or DNA Damage.
Severe photosensitivity in Ultraviolet rays, skin pigmentary changes,
malignant tumor formation, and, on rare occasions, progressive
neurologic deterioration distinguish the illness. Patients may also
exhibit oral, ophthalmologic, and neurologic signs of the condition (7).
Patients with Xeroderma Pigmentosum have congenital abnormalities in the
deoxyribonucleic acid (DNA) damage repair system, which makes their skin
very vulnerable to UV exposure (5). Though rare, Xeroderma Pigmentosum
can be associated with Lung malignancy. Lung cancer in XP patients is
caused by the carcinogen benzo(a)pyrene binding to their DNA, which is
caused by defective DNA damage repair mechanisms (8). When associated
with lung cancer, common symptoms include cough, wheezing, dyspnea, and
hemoptysis (9). In this case, we present a case of a 22-year-old male
with a known history of Xeroderma Pigmentosum who came with a
nonproductive cough associated with hemoptysis, intermittent fever, and
shortness of breath. Blood parameters have emerged as significant
prognostic factors in lung cancer patients. There can be deranged
lymphocyte count, platelet count, albumin level, and other inflammatory
markers (10). Metastasis can further derange other blood markers,
including thyroid and liver function tests, depending upon the organ it
invades. In this, total leukocyte count, neutrophils, erythrocyte
sedimentation rate (ESR), prothrombin time, and alkaline phosphatase
were found to be increased.
Non-small cell lung cancer has various histological subtypes and
treatment approaches (12). One of the non-small cell lung cancers is
Spindle Cell Carcinoma. This is the first case report associated with
Spindle cell carcinoma and xeroderma pigmentosum. Spindle cell carcinoma
is an aggressive and unusual form of lung cancer, representing only
0.2-0.3% of primary pulmonary cancers (11). In a study of lung tumors,
spindle cell carcinoma was among the rarer, with squamous cell carcinoma
being the most common. It can metastasize to the brain, causing
neurological symptoms such as vertical one-and-a-half syndrome.
Endobronchial biopsy findings reveal that squamous cell carcinoma is the
most common centrally arising lung tumor, followed by small cell
carcinoma and adenocarcinoma, with spindle cell carcinoma being
relatively uncommon (11). Endoscopic ultrasound-guided biopsy has
emerged as a valuable alternative to conventional biopsy methods for
various tissues. Endoscopic and ultrasound-guided biopsies are effective
techniques for diagnosing lung cancer and mediastinal lymphadenopathy
(13). In this case, the patient underwent an endoscopic
ultrasound-guided trust biopsy of left lung mass, and it revealed
multiple cores of necrotic tissues composed of small areas of the viable
tumor with a sheet of fascicles of spindle cells with a diagnosis of
Spindle cell Tumor. Multi-detector computed tomography (MDCT) has shown
promise in lung cancer screening and diagnosis. MDCT and its
post-processing techniques can accurately detect primary trachea and
central bronchus tumors, providing crucial information for surgical
treatment (15). Recent studies have highlighted the significance of
electrocardiogram (ECG) changes in non-small-cell lung cancer (NSCLC)
patients. Specific ECG abnormalities, such as increased ventricular
rate, QRS voltage decrease, ST-segment depression, and new atrial
fibrillation, were associated with higher mortality within three months
in NSCLC patients compared to controls (14). In this, the patient had
sinus rhythm, left atrial abnormality, and left fascicular block with
average QRS voltage and ST segment.
The main treatments for lung cancer include surgery, chemotherapy,
radiotherapy, and immunotherapy, often used in combination as
multimodality therapy (16). While survival is a primary goal, patients
and caregivers also prioritize quality of life and functionality when
defining treatment success (17). Treatment decisions should consider
factors such as expected performance status, toxicity, and
hospitalization rates (18). For Spindle cell Lung Cancer, first-line
treatment typically involves platinum-based chemotherapy, with the
addition of immunotherapy agents like atezolizumab or durvalumab in some
cases (18). However, due to expensive chemotherapy and immunotherapy,
the patient was under palliative care with different medications. The
limitation of the research is that this study could not track the
effectiveness of cancer therapy, which includes platinum-based
chemotherapy and immunotherapy, due to the patient chosen palliative
care; however, this case report has highlighted the critical association
between xeroderma pigmentosum and spindle cell carcinoma and tracked the
diagnostic and treatment approach.