A Rare Case of Pulmonary Endobronchial Spindle Cell Carcinoma with Liver Metastasis along with Concurrent Cutaneous Neurofibroma

ABBREVIATIONS USED IN THIS ARTICLE

NF = Neurofibromatosis; SC = Sarcomatoid cancer.

INTRODUCTION

Sarcomatoid lung neoplasm is rare and accounts for 0.3–1.3% of all lung malignancies.¹ Sarcomatoid carcinoma has four histological variants: giant cell carcinoma, spindle cell carcinoma, pulmonary blastoma, and carcinosarcoma, according to the 2021 World Health Organization (WHO) classification. Among them, spindle cell carcinoma of the lung is quite a rare histological subtype. Pulmonary spindle cell carcinoma is a highly malignant variety of sarcomatoid carcinoma that most commonly occurs in the larynx, oral cavity, kidney, breast, prostate, and uterus, occasionally seen in the lung.² spindle cell carcinoma is made up of spindle cells that frequently involve the lung periphery. Endobronchial spindle cell carcinoma with metastasis is sporadic, and only a few cases have been reported.³ Here we describe the elderly male patient with lung endobronchial spindle cell carcinoma with liver metastasis and skin neurofibroma.

CASE DESCRIPTION

A 56-year-old male patient, an agricultural worker with no comorbidities, presented with a dry cough and difficulty breathing for two months. He also had multiple painless swelling in the head. He did not give any history of loss of appetite, weight loss, chest pain, wheezing, palpitations, fever, or hemoptysis. He was not given any history of abdominal distension, bilateral leg swelling, or reduced urine output. He has never smoked or consumed alcohol. On examination, he had grade 3 clubbing and multiple tiny swellings in the head. He had room air saturation of 98%, blood pressure of 110/70 mm Hg, and a pulse rate of about 95/min. Chest auscultation revealed decreased intensity of breath sounds in bilateral infra-axillary areas.

Chest X-ray posteroanterior view showed right side costophrenic angle blunting with nonhomogeneous nodular opacity noted in bilateral lung mid and lower zone (Fig. 1).

Ultrasound thorax showed right side minimal pleural effusion; hence ultrasound-guided pleural fluid diagnostic aspiration was done. Pleural fluid was lymphocytic rich, and exudative, and cytology showed small mature lymphocytes and few macrophages. Pleural fluid pyogenic culture and CBNAAT were negative.

Contrast-enhanced computed tomography (CECT) thorax and abdomen showed 6 × 3 cm heterogeneously enhancing mass in the left lung upper lobe, bilateral multilobar nodules with random distribution, bilateral pleural effusion, and a subcapsular hypodense lesion in the liver. PET-CT showed a soft tissue mass lesion in the apical posterior segment of the left lung upper lobe (3.1 × 5 cm), hypermetabolic nodules in bilateral lung and pleura, and bilateral pleural effusion suggestive of left lung upper lobe mass with metastasis.

Ultrasound-guided liver biopsy was done from a hypodense lesion of the liver. Fiberoptic bronchoscopy showed a left upper lobe narrowed bronchus with a white-colored plaque from that endobronchial biopsy taken. A liver biopsy showed fibro collagenous tissue infiltrated by mild to moderately cellular spindle cells. Cells have ovoid to the elongated nucleus, coarse chromatin, spindly eosinophilic cytoplasm without necrosis and an increase in the number of mitoses. Lung endobronchial biopsy showed ovoid to spindle-shaped cells with an elongated nucleus, coarse chromatin, inconspicuous nucleolus, and abundant pale vacuolated cytoplasm in some to spindly eosinophilic cytoplasm. Immunohistochemical stain positive for vimentin, negative for TTF-1, CK7, CD34, S100, HMB 45 WT1, and pan-cytokeratin (Fig. 2). An excision biopsy was taken from scalp swelling, which showed a benign spindle tumor of neurogenic origin suggestive of neurofibroma (Fig. 3). No other features of neurofibroma were found. The patient was started on carboplatin and paclitaxel and scheduled for follow-up.

The patient provided informed consent to the publication of this case.

DISCUSSION

Spindle cell carcinoma of the lung is one of the rare histological variants of sarcomatoid cancer (SC) according to the WHO lung cancer classification. Sarcomatoid carcinoma includes four histological variants: giant cell carcinoma pulmonary blastoma, spindle cell carcinoma, and carcinosarcoma. Sarcomatoid cancer is a rare type of lung non-small cell carcinoma, among which spindle cell carcinoma with metastasis is very rare.⁴ According to the hypothesis, it is not carcinoma because of its non-epithelial origin.

Even though no data regarding endobronchial spindle cell tumor is available, its prognosis is poor because it comes under sarcomatoid carcinoma. Overall survival of endobronchial sarcoma depends upon the tumor’s age, location, and staging.³ It is more common in male smokers, most commonly in the sixth to the seventh decade, but our patient does not have a smoking history.⁵

Sarcomatoid cancer presents as either a peripheral or central lung tumor and clinical presentation depends on the location. Most patients will have a cough, shortness of breath, and hemoptysis if endobronchial involvement.⁶ Our patient had a dry cough and shortness of breath with endobronchial and lung periphery involvement.

The most common radiological picture in the lung is an upper lobe peripheral cavitary lesion. However, the segment’s collapse may occur if there is an endobronchial lesion. However, in our case, the patient presented with a left upper lobe mass with multiple bilateral metastases with the liver lesion.² No reports were available of liver metastasis in pulmonary spindle cell carcinoma.

Pathological findings in spindle cell carcinoma spindle-shaped cells show a sarcomatoid flower and bundle-like arrangement composed of spindle-shaped tumor cells.⁴ Our patient’s liver biopsy showed fibrocollagenous tissue infiltrated by mild to moderately cellular spindle cells. Cells have ovoid to the elongated nucleus, coarse chromatin, spindly eosinophilic cytoplasm without necrosis and an increase in the number of mitoses. Lung endobronchial biopsy showed ovoid to spindle-shaped cells with an elongated nucleus, coarse chromatin, inconspicuous nucleolus, and abundant pale vacuolated cytoplasm in some to spindly eosinophilic cytoplasm. Immunohistochemical stain is positive for vimentin, negative for TTF-1, CK7, CD34, S100, HMB 45 WT1, and pan-cytokeratin. Other tumors like leiomyoma are also positive for desmin, smooth muscle actin, and smooth muscle myosin heavy chain.⁷

Surgery, chemotherapy, and radiotherapy are treatment options for spindle cell carcinoma, depending on the extent of the lesion and metastasis. Survival is less compared to other non-small cell carcinoma although surgical, chemotherapy, and radiotherapy. The 5-year survival rate for these patients is 21.34%.⁸

Neurofibromatosis (NF) is an autosomal dominant benign condition with rare malignant transformation. The most common malignant transformations found in type I NF were chondrosarcoma, osteosarcoma, angiosarcoma, malignant nerve sheath tumor, and rhabdomyosarcoma.⁹ Neurofibromatosis malignant transformation presenting as lung carcinoma is very rare. Neurofibromatosis may predispose to primary lung cancer. Usually, lung manifestations of NF are upper lobe fibrosis and bulla. Neurofibromatosis with primary lung spindle cell carcinoma is a very rare presentation.¹⁰ Bhargava et al. reported one case of malignant transformation of cutaneous neurofibroma to cutaneous spindle cell carcinoma.¹¹

CONCLUSION

Pulmonary spindle cell tumor is a rare condition with a non-specific clinical presentation like non-small cell carcinoma of the lung associated with cutaneous neurofibroma; hence pathological and immunohistochemical staining is needed to differentiate. Even though metastasis is very rare relevant radiological examination is required to rule out metastasis like this case. Early diagnosis helps plan surgery with chemotherapy and radiotherapy even though the survival rate is less than other non-small cell carcinoma. Pulmonary spindle cell carcinoma is very little known; hence, longer follow-up of these patients is needed.

ORCID

Bheemanathi H Srinivas https://orcid.org/0000-0002-9619-6719

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