{"title":"Extraskeletal Mesenchymal Chondrosarcoma, a Rare Entity with Unusual Metastases: A Case Report.","authors":"Afaque Ali, Sara Rehman, Kashif Siddique","doi":"10.37029/jcas.v7i2.411","DOIUrl":"https://doi.org/10.37029/jcas.v7i2.411","url":null,"abstract":"<p><strong>Introduction: </strong>Extraskeletal mesenchymal chondrosarcoma (ESMC) is rare, aggressive, and high grade malignant tumors originating from soft tissues. It carries a poor prognosis with a tendency for local recurrence and distant metastasis, necessitating long-term follow-up. The most common sites for metastasis are the lungs, bones, and lymph nodes. Meanwhile, pancreatic metastases are extremely rare.</p><p><strong>Case description: </strong>A 35-year-old female presented with a history of wide local excision for the left upper limb mass; histopathology showed ESMC. She was on surveillance with a computed tomography scan of the thorax and magnetic resonance imaging of the left upper limb at 3-months intervals until she developed vertebral and pancreatic lesions after 6 months post-surgery. No pulmonary metastases were noted. Considering the unusual site for metastasis and to exclude the possibility of any second malignancy, bone biopsy, and endoscopic ultrasound-guided fine-needle aspiration was performed that confirmed metastases. Later she developed osseous metastases in the pelvis and femora.</p><p><strong>Practical implication: </strong>Pancreatic metastasis from ESMC is extremely rare. In case of new visceral or osseous lesions in a patient with a past medical history of ESMC, the possibility of metastatic disease should be considered. A biopsy can be performed to confirm the diagnosis.</p>","PeriodicalId":73631,"journal":{"name":"Journal of cancer & allied specialties","volume":"7 2","pages":"411"},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/80/92/JCAS-7-411.PMC10187594.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9480086","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Najma Shaheen, Mir Rooh Ullah Jan, Shazia Riaz, Muhammad Saghir Khan
{"title":"Late Morbidity among Survivors of Childhood Cancers; Experience at Tertiary Care Cancer Hospital.","authors":"Najma Shaheen, Mir Rooh Ullah Jan, Shazia Riaz, Muhammad Saghir Khan","doi":"10.37029/jcas.v6i2.351","DOIUrl":"10.37029/jcas.v6i2.351","url":null,"abstract":"<p><strong>Background: </strong>Long-term survivors of childhood malignancies are at increased risk of experiencing treatment-related morbidities. Survival into late adulthood in these children provides ample time for the acquisition of long-term sequelae. This study aimed to determine the late adverse effects among long-term survivors of childhood cancer from a low-income country perspective.</p><p><strong>Materials and methods: </strong>Data were retrospectively collected from review of charts of patients aged under 18 years at the time of their primary diagnosis between 1 January, 1995, and 31 December, 2008, and who survived for at least 5 years after completion of their treatment. Analysed data included demographics, cancer type, treatment modality, types of chemotherapy agents administered and specific late morbidities including frequency of azoospermia, oligospermia, endocrine abnormalities, hearing and pulmonary function impairment and cardiac dysfunction among the long-term survivors of cancer.</p><p><strong>Results: </strong>The total number of patients was 300 with a mean age of 18 ± 2 years. The male to female ratio was 2.7:1. Median follow-up duration was 18 years (range: 5-25 years). Seventy-seven percent of patients were from Punjab, 20% were from Khyber Pakhtunkhwa and 3% were from other provinces. Fifty percent had a diagnosis of Hodgkin lymphoma, 17% had acute lymphoblastic leukaemia, 13% had non-Hodgkin lymphoma, 10% had germ cell tumours and 10% had other tumours. Fifty-seven percent received chemotherapy, 23% had chemotherapy and radiotherapy, 15% had chemotherapy and surgery, 3% had chemotherapy, surgery and radiotherapy and 2% had only surgery. Notable long-term documented sequelae were; azoospermia/oligospermia in 64%, endocrine abnormalities in 25% with hypothyroidism in 13.5% and follicle-stimulating hormone and luteinizing hormone abnormalities in 11.5%, ototoxicity in 6.5%, impaired pulmonary function tests in 4.6%, cardiotoxicity in 2.4% and second malignancies (acute myeloid leukaemia and myelodysplastic syndrome) in 1%.</p><p><strong>Conclusion: </strong>Childhood cancer survivors are at increased risk of adverse treatment-related sequelae and a long-term follow-up plan should be in place in centres where they receive treatment for their primary disease.</p>","PeriodicalId":73631,"journal":{"name":"Journal of cancer & allied specialties","volume":"6 2","pages":"e351"},"PeriodicalIF":0.0,"publicationDate":"2020-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/94/80/JCAS-6-351.PMC10166322.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9487457","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Muhammad Omer Altaf, Saad Khalil Chaudhry, Palwasha Gul, Waqas Ahmad, Atif Naveed, Islah Ud Din
{"title":"Intracranial Extra-axial Undifferentiated Pleomorphic Sarcoma; a Case Report.","authors":"Muhammad Omer Altaf, Saad Khalil Chaudhry, Palwasha Gul, Waqas Ahmad, Atif Naveed, Islah Ud Din","doi":"10.37029/jcas.v6i2.357","DOIUrl":"10.37029/jcas.v6i2.357","url":null,"abstract":"<p><strong>Introduction: </strong>Head-and-neck sarcomas result in high mortality rates. A lot of new cases of sarcomas are diagnosed every year constituting about 1 % of all head-and-neck malignancies. Undifferentiated pleomorphic sarcomas (UPSs) are high-grade soft-tissue malignant tumours which occur primarily in limbs and retroperitoneal cavities. These tumours can often metastasize to the central nervous system. However, in rare instances, soft-tissue sarcomas may develop as a primary lesion within the intracranial compartments.</p><p><strong>Case description: </strong>A young male presented to the clinic with occipital headache and blurring of vision. Initial workup included brain contrast-enhanced computed tomography (CECT) and magnetic resonance imaging (MRI). The CECT suggested that there was an extra-axial mass present which was pressing against the adjacent left frontal lobe. Overlying frontal bone of the left side showed remodelling effect and associated mild periosteal reaction. MRI scan showed intracranial extra-axial lobulated mass with T1 intermediate to low-signal intensity and intermediate to high signals on T2 sequences. Heterogeneous enhancement on post-contrast sequences was also seen. The lesion had a broad-based attachment with dura mater and was closely applied to the orbital roof without orbital invasion. Staging positron emission tomography-CT scan showed a solitary site of disease in an intracranial location. Final diagnosis was confirmed by histopathology following excision of mass as UPS. Post-surgery MRI brain showed satisfactory post-operative appearance without any residual disease. The patient remained asymptomatic for 2 years and 6 months following the resection of the tumour.</p><p><strong>Practical implications: </strong>Most of the extra-axial intracranial soft-tissue tumours arise from the meninges with meningiomas making the substantial bulk; however, possibility of other relatively rare tumours of meningeal origin must not be ignored. Intracranial soft-tissue sarcomas mostly arise from meninges thus require a good understanding of clinical presentation as well as acquaintance with morphological features on radiological imaging to differentiate from other tumours. These can be treated with excision and radiotherapy along with sequential follow-ups to look for recurrence. Tissue sampling is mandatory followed by complete staging scan in case of sarcomas to rule out possible primary or secondary disease.</p>","PeriodicalId":73631,"journal":{"name":"Journal of cancer & allied specialties","volume":"6 2","pages":"e357"},"PeriodicalIF":0.0,"publicationDate":"2020-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/cd/3e/JCAS-6-357.PMC10166348.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9480129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Khawaja Shehryar Nasir, Haroon Hafeez, Arif Jamshed, Raza T Hussain
{"title":"Effectiveness of Nerve Blocks for the Management of Head and Neck Cancer Associated Neuropathic Pain Disorders; a Retrospective Study.","authors":"Khawaja Shehryar Nasir, Haroon Hafeez, Arif Jamshed, Raza T Hussain","doi":"10.37029/jcas.v6i2.367","DOIUrl":"10.37029/jcas.v6i2.367","url":null,"abstract":"<p><strong>Introduction: </strong>A portion of patients with head and neck cancer (HNC)- associated pain may not experience relief in symptoms with non-invasive modalities. A nerve block is a procedure in which a local anaesthetic agent is injected along the nerve track to preferentially block sensory transmission. The literature on the effectiveness of nerve blocks in the management of HNC-related pain is limited. The purpose of this study was to determine the effectiveness of nerve blocks in the management of breakthrough HNC-associated trigeminal or cervical neuropathic pain disorders.</p><p><strong>Materials and methods: </strong>A retrospective chart review of patients who underwent a nerve block or infiltration procedure in the regions of head and neck for the management of breakthrough HNC-associated trigeminal or cervical neuropathic pain disorders in the Orofacial Pain Medicine Clinic, Shaukat Khanum Memorial Cancer Hospital and Research Centre, between November 2018 and November 2019 was completed. Information regarding demographics, diagnosis and pain characteristics was extracted and reviewed. The Fisher's exact test and Mann-Whitney U-test were used for analysis between independent and dependent variables.</p><p><strong>Results: </strong>A total of 27 participants were included in the investigation, of which 66.7% were male. The average pre-procedure pain score was 6.85±2.54. Following intervention, 81.5% of the participants experienced >75% relief in pain for longer than 48 hours. The mean immediate post-procedure pain score was 0.26±1.02 and the average duration of relief was 6.10±6.50 weeks. The significant effect of nerve blocks was found to be statistically associated with the concurrent use of amitriptyline (<i>P</i> = 0.017).</p><p><strong>Conclusion: </strong>Nerve blocks, as an adjunctive therapy to pharmacologic treatment, can provide significant relief to patients with breakthrough HNC-associated trigeminal and cervical neuropathic pain disorders. However, the duration of relief experienced by the participants is inconsistent. The beneficial effect of nerve blocks appears to be more common in patients that were concurrently using amitriptyline.</p>","PeriodicalId":73631,"journal":{"name":"Journal of cancer & allied specialties","volume":"6 2","pages":"e367"},"PeriodicalIF":0.0,"publicationDate":"2020-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/97/ba/JCAS-6-367.PMC10166314.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9487456","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Notice of Retraction.","authors":"Khawaja Shehryar Nasir","doi":"10.37029/jcas.v6i2.365","DOIUrl":"10.37029/jcas.v6i2.365","url":null,"abstract":"<p><p>[This retracts the article DOI: 10.37029/jcas.v6i1.299.].</p>","PeriodicalId":73631,"journal":{"name":"Journal of cancer & allied specialties","volume":"6 2","pages":"e365"},"PeriodicalIF":0.0,"publicationDate":"2020-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/34/18/JCAS-6-365.PMC10166305.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9484500","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ali Jamal, Rizwan Bilal, Imran Khalid Niazi, Humayun Bashir
{"title":"High-grade B-cell Non-Hodgkin's Lymphoma Masquerading as Thyroid Carcinoma; a Case Report.","authors":"Ali Jamal, Rizwan Bilal, Imran Khalid Niazi, Humayun Bashir","doi":"10.37029/jcas.v6i2.363","DOIUrl":"10.37029/jcas.v6i2.363","url":null,"abstract":"<p><strong>Introduction: </strong>High grade B-cell lymphoma and diffuse large B cell exhibiting myelocytoma (MYC) translocation with B-cell lymphoma 2 (BCL2) and/or B-cell lymphoma 6 (BCL6) re-arrangements, also known as double and triple hit lymphomas, are aggressive entities. World Health Organization update 2017 includes this cytogenetically defined category of \"High grade B cell lymphoma with myelocytoma MYC and BCL2 and/ or BCL6 rearrangements\" as a distinct entity on their own. We present an interesting case of an obese patient presenting with a neck mass, suspected to be an aggressive thyroid carcinoma, which eventually turned out to be a high grade B-cell lymphoma.</p><p><strong>Case description: </strong>A 64 years-old male presented with complaints of neck pain for 10 weeks and a huge swelling in front of neck for 4 weeks. Respiratory system evaluation revealed cough, pleuritic pain and expectoration. Rest of the systemic review was unremarkable. Baseline reports showed hypothyroid status. Ultrasonography (USG) thyroid showed right upper pole Thyroid Imaging Reporting and Data Systems - 4 (TIRADS-4) nodule with bilateral cervical lymphadenopathy for which correlation with fine needle aspiration cytology (FNAC) was advised. Magnetic resonance imaging (MRI) films were submitted for review which showed overall features of locally invasive primary thyroid malignancy. Case was discussed in a multi-disciplinary team (MDT) meeting and suspicion arose of non-thyroidal origin of tumor. Patient underwent Positron emission tomography/computed tomography (PET/CT) as per MDT recommendations. PET/CT findings were highly suggestive of lymphomatous disease as opposed to thyroidal malignancy suspicion early on, which was confirmed on histopathology of cervical nodes.</p><p><strong>Practical implications: </strong>High grade B-cell lymphoma is an aggressive entity and can be very deceptive in its presentation, as evident from this case report. Functional imaging modalities such as Fluorodeoxyglucose (F-18 FDG) PET/CT can provide crucial assistance in unmasking a deceptive disease entity masquerading as some other, thus changing the management plan completely.</p>","PeriodicalId":73631,"journal":{"name":"Journal of cancer & allied specialties","volume":"6 2","pages":"e363"},"PeriodicalIF":0.0,"publicationDate":"2020-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f9/90/JCAS-6-363.PMC10166308.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9487454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Irum Ghafoor, Abdul Hanan Ali Rasheed, Aun Raza, Arif Jamshed, Haroon Hafeez
{"title":"Reasons for Admission and Outcome to an Acute Palliative Care Unit in Patients with Advanced Malignancy in a Cancer Hospital.","authors":"Irum Ghafoor, Abdul Hanan Ali Rasheed, Aun Raza, Arif Jamshed, Haroon Hafeez","doi":"10.37029/jcas.v6i2.353","DOIUrl":"10.37029/jcas.v6i2.353","url":null,"abstract":"<p><strong>Introduction: </strong>The alleviation of suffering is a primary goal of palliative care team for patients with terminal cancer. In some cases, patients experience symptoms requiring inpatient care. The purpose of this investigation was to assess the clinical presentation and outcomes of hospitalisation in patients that were admitted to the acute palliative care service.</p><p><strong>Materials and methods: </strong>This is a retrospective descriptive study looking at admissions to an acute palliative care unit in a single centre over a 24-month period. Medical records of all patients, admitted in palliative care unit from 1 January, 2013, to 31 December, 2014, were reviewed for reason of admission and outcome.</p><p><strong>Results: </strong>A total of 226 patients were identified and included in the present investigation. Among these, 55.5% (125) were females. The median age of the cohort was 48 (15-86) years. The most common reasons for admission were alteration in consciousness (19.5%), respiratory tract infection (18%), diarrhoea and/or vomiting (14.2%) and respiratory distress (not related to infection) (13.4%). The median duration of hospital stay was 4 (0- 27) days. The majority of the patients were discharged home (65.1%). However, a significant portion (33.1%) of the patients did not survive the hospitalisation. Following discharge from the hospital, at 4-weeks follow-up, the survival rate was 38.7%. This dropped to 21.7% at 8-weeks.</p><p><strong>Conclusion: </strong>Patients with advanced disease have a multitude of reasons to seek acute inpatient care. The majority of the patients were discharged following care. However, the survival rate of patients following discharge was low.</p>","PeriodicalId":73631,"journal":{"name":"Journal of cancer & allied specialties","volume":"6 2","pages":"e353"},"PeriodicalIF":0.0,"publicationDate":"2020-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8f/c9/JCAS-6-353.PMC10166313.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9487453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Khawaja Shehryar Nasir, Raza Hussain, Arif Jamshed
{"title":"Pre-operative Occurrence of First Bite Syndrome in Two Cases of Parotid Gland Tumour.","authors":"Khawaja Shehryar Nasir, Raza Hussain, Arif Jamshed","doi":"10.37029/jcas.v6i1.331","DOIUrl":"10.37029/jcas.v6i1.331","url":null,"abstract":"<p><strong>Introduction: </strong>First bite syndrome (FBS) is a gustatory-evoked painful condition that is characterised by the onset of severe electric shock-like pain in the periauricular region. In the majority of patients, FBS develops postoperatively. However, in rare instances, it may present in a pre-operative setting.</p><p><strong>Case description: </strong>Two cases of FBS developing preoperatively secondary to parotid gland tumour are presented. The patients, 54 and 30 years old, presented with complaints of electric shock-like pain localised over the periauricular region. In each case, the pain was triggered following the first bite of the meal. In both cases, the pain lasted for few seconds and with subsequent bites subsided only to return at the beginning of the next meal.</p><p><strong>Practical implications: </strong>Pre-operative occurrence of FBS in the absence of a history of trauma or surgery should necessitate a thorough investigation and follow-up for an underlying salivary gland tumour.</p>","PeriodicalId":73631,"journal":{"name":"Journal of cancer & allied specialties","volume":"6 1","pages":"e331"},"PeriodicalIF":0.0,"publicationDate":"2020-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/cd/75/JCAS-6-331.PMC10166312.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9541334","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Imaging Characteristics of Breast Lymphoma; a Case Series.","authors":"Sara Rehman, Muhammad Atif Naveed, Javaria Aleem","doi":"10.37029/jcas.v6i1.305","DOIUrl":"10.37029/jcas.v6i1.305","url":null,"abstract":"<p><strong>Introduction: </strong>Breast involvement by lymphoma is rare. It can occur as a primary breast tumour or as an extranodal manifestation of the systemic disease. The imaging features of breast lymphoma (BL) are not characteristic. Biopsy is necessary for diagnosis due to non-specific imaging features.</p><p><strong>Materials and methods: </strong>A retrospective electronic medical chart review was conducted of patients diagnosed with lymphoma of breast that underwent diagnostic radiological procedures (including mammography, ultrasound breast, computed tomography (CT) scan and positron emission tomography (PET/CT) scan from 1 July 2018 to 31 March 2019 at Shaukat Khanum Memorial Cancer Hospital and Research Centre, Pakistan.</p><p><strong>Results: </strong>Four patients were identified. On mammogram, the most common finding consisted of the presence of high-density masses with circumscribed or indistinct margins. On ultrasound, hypoechoic masses and indistinct diffuse infiltrative patterns were observed. PET/CT and CT were helpful in detecting extramammary sites of disease and for classifying the disease into primary or secondary BL.</p><p><strong>Conclusion: </strong>The early diagnosis of the BL is important. The radiologists should include lymphoma in the differential diagnosis when there is the absence of microcalcifications or spiculated margins on mammography and ultrasound.</p>","PeriodicalId":73631,"journal":{"name":"Journal of cancer & allied specialties","volume":"6 1","pages":"e305"},"PeriodicalIF":0.0,"publicationDate":"2020-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/af/aa/JCAS-6-305.PMC10166316.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9841104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Waqas Jehangir, Alexander D Karabachev, Elvira R Umyarova
{"title":"Pulmonary Haemosiderosis Secondary to Hereditary Haemochromatosis; a Case Report.","authors":"Waqas Jehangir, Alexander D Karabachev, Elvira R Umyarova","doi":"10.37029/jcas.v6i1.281","DOIUrl":"10.37029/jcas.v6i1.281","url":null,"abstract":"<p><strong>Introduction: </strong>Hereditary haemochromatosis (HH) is an autosomal recessive disease of increased intestinal absorption of iron, leading to accumulation in tissues which may progress to organ damage, most commonly in the liver. Iron deposition in the liver can lead to cirrhosis and hepatocellular carcinoma. Other common manifestations of haemochromatosis include diabetes, bronzing of the skin, arthropathy and cardiomyopathy. Here, we describe a case of pulmonary haemosiderosis secondary to HH.</p><p><strong>Case description: </strong>A 49-year-old male with no medical history or family history of iron overload presented with fatigue, shortness of breath and chest pain after a recent finding of elevated ferritin. The patient was found to have biallelic C282Y mutations of the human homeostatic iron regulator protein (<i>HFE</i>) protein and after further workup with laboratory tests and imaging was diagnosed with HH with secondary pulmonary haemosiderosis. The patient is receiving twice weekly phlebotomies and has had an overall improvement in his symptoms.</p><p><strong>Practical implications: </strong>The presentation of haemochromatosis can vary widely depending on the severity of iron overload and the presence of conditions that predispose organ dysfunction. Pulmonary haemosiderosis is a very rare manifestation of HH. This report illustrates the various manifestations of this disease and provides insight into this rare presentation to improve the diagnosis of this disease.</p>","PeriodicalId":73631,"journal":{"name":"Journal of cancer & allied specialties","volume":"6 1","pages":"e281"},"PeriodicalIF":0.0,"publicationDate":"2020-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/68/c4/JCAS-6-281.PMC10166317.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9841101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}