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Carcinosarcoma of the palate: report of a case with a diagnosis of sarcomatoid metastasis by fine needle aspiration cytology

Jayaram G, Elsayed EM

Acta Cytol., 2005 Sep-Oct;49(5):520-4.
PMID: 16334029

BACKGROUND: Carcinosarcoma (sarcomatoid carcinoma) is a rare tumor with a high predilection for the aerodigestive tract. Cytologic diagnosis of metastatic carcinosarcoma has been reported in very few cases.

CASE: An 84-year-old woman presented with a 2-cm-diameter, right cervical lymph node that was referred for fine needle aspiration cytology (FNAC). She had received radiotherapy for a palatal squamous cell carcinoma 2 years earlier. The FNAC smears had a sarcomatoid appearance. Repeat fine needle aspiration was performed, with cytologic and immunocytochemical staining. Careful consideration of the cytologic and immunophenotypic features led to an impression of carcinosarcoma. Histologic sections of the palatal biopsy that had been previously diagnosed as squamous cell carcinoma were reviewed, and a final diagnosis of carcinosarcoma was established.

CONCLUSION: Metastasis of rare lesions, such as carcinosarcoma may be confusing and difficult to diagnose on FNAC, especially when the cytologic sample shows a predominantly sarcomatoid component. The difficulty is compounded when the sarcomatoid component happens to have been overlooked on the initial histologic assessment. With representative cytologic sampling, immunocytochemical staining and review of the histologic material, the correct diagnosis was achieved in this case.

Matched MeSH terms: Diagnostic Errors
Villoglandular adenocarcinoma of cervix--a tumour with bland cytological features: report of a case missed on cytology

Jayaram G, Razak A

Malays J Pathol, 2003 Dec;25(2):139-43.
PMID: 16196371

The diagnosis of villoglandular adenocarcinoma of cervix on cytological smears is often missed due to the relatively bland cytological features of this tumour. A 45-year-old female with an exophytic cervical growth had three cervical smears reported as unsatisfactory. A cervical biopsy followed by Wertheim's hysterectomy showed a villoglandular adenocarcinoma (VGA) of cervix. Vaginal recurrence of VGA was again missed on the first post-operative vault smear. The second and third vault smears showed characteristic features of VGA that enabled correct identification. Review of some of the smears previously reported as unsatisfactory showed architectural features of VGA in the three dimensional (3-D) fragments that were previously considered to be benign.

Matched MeSH terms: Diagnostic Errors*
Cystic lesion of the parotid gland with squamous metaplasia mistaken for squamous cell carcinoma. A case report

Jayaram G, Pathmanathan R, Khanijow V

Acta Cytol., 1998 Nov-Dec;42(6):1468-72.
PMID: 9850664

BACKGROUND: The diverse range of diseases that affect the salivary glands may lead to problems and pitfalls in cyto-diagnosis. While false negative diagnosis of cystic salivary gland tumors is well known, false positive cytodiagnosis in nonneoplastic salivary cysts is less well documented.

CASE: An 85-year-old female presented with a painless left parotid gland swelling of three months' duration. Fine needle aspiration cytology yielded fluid, smears of which showed keratinizing squamous cells with nuclear atypia leading to a cytologic diagnosis of cystic squamous cell carcinoma. A total radical parotidectomy followed. Histopathologic study showed cystic dilatation of many of the salivary ducts, which were lined with metaplastic squamous epithelium that showed atypia. There was no evidence of squamous cell carcinoma.

CONCLUSION: Squamous metaplasia is known to occur in benign salivary gland lesions, such as pleomorphic adenoma and Warthin's tumors, as well as in salivary duct cysts and necrotizing sialometaplasia. However, atypical squamous metaplasia of salivary duct cysts mimicking squamous cell carcinoma on cytology is unusual.

Matched MeSH terms: Diagnostic Errors
Fulltext Huge Retroperitoneal Cyst Masquerading as Ovarian Tumour: A Case Report

Johan S, Hassan MF, Hayati F, Azizan N, Payus AO, Edwin See UH

Front Surg, 2020;7:585411.
PMID: 33195391 DOI: 10.3389/fsurg.2020.585411

Retroperitoneal cystic mass is a rare surgical condition that is often misdiagnosed preoperatively. Here, we report a case of a 56-year-old woman who presented with abdominal swelling for a 1-year duration, which was associated with lower abdominal pain for 6 months. Her abdominal radiograph showed a huge radiopaque lesion, and contrast-enhanced computed tomography scan of the abdomen reported it as a left ovarian serous cystadenoma causing local mass effect to the left ureter leading to mild left hydronephrosis. She underwent exploratory laparotomy and noted there was a huge retroperitoneal cystic mass. The histopathological assessment finding was consistent with a benign retroperitoneal cyst. This case report aims to share the rare case of primary retroperitoneal lesions, which can cause a diagnostic challenge preoperatively to all clinicians despite advanced achievement in medical imaging.

Matched MeSH terms: Diagnostic Errors
Fulltext Occipital Falcine Anaplastic Hemangiopericytoma Mimicking Meningioma

Kanesen D, Kandasamy R, Idris Z

J Neurosci Rural Pract, 2016 Dec;7(Suppl 1):S95-S98.
PMID: 28163517 DOI: 10.4103/0976-3147.196463

The rarity of hemangiopericytoma (HPC) and its controversial histological classification result in its frequent misdiagnosis and thus make the treatment quite challenging. It is often difficult to distinguish these tumors from meningiomas based on clinical features and radiological findings. This is a case report of a man, diagnosed clinically and radiologically as meningioma, which turned out to be anaplastic HPC on histological examination. A 30-year-old man presented with 3 months of progressively worsening of headache and blurring of vision. Clinical examination revealed the right homonymous hemianopia with reduced visual acuity and papilledema bilaterally. Magnetic resonance imaging revealed a multilobulated and heterogenous extraaxial lesion attached to the occipital falx. It measured 9.0 cm (AP) × 5.5 cm (W) × 5.8 cm (CC) and expands bilaterally with major bulk on the left. An occipital craniotomy followed by a subtotal tumor excision was only achieved due to profuse bleeding intraoperatively. Histopathology confirmed an anaplastic HPC (WHO Grade 3). The importance of differentiation between HPCs and meningiomas cannot be overemphasized. A preoperative correct diagnosis is difficult, but it is important that it should be made. Multilobulated (mushroom appearance), prominent internal signal voids, relatively narrow dural attachment, and lytic destruction without calcifications are useful findings to distinguish HPCs from meningiomas.

Matched MeSH terms: Diagnostic Errors
Fulltext Post-transplant lymphoproliferative disorder presenting as T-prolymphocytic leukemia: a case report

Kasinathan G, Kori AN, Azmie NM

J Med Case Rep, 2019 Jul 22;13(1):223.
PMID: 31327318 DOI: 10.1186/s13256-019-2164-y

INTRODUCTION: Post-transplant lymphoproliferative disorder is a serious disorder which occurs post hematopoietic stem cell transplant or solid organ transplantation. T-prolymphocytic leukemia is a T cell type monomorphic post-transplant lymphoproliferative disorder which accounts for only 2% of all mature lymphocytic leukemias in adults over the age of 30.
CASE PRESENTATION: A 59-year-old man of Chinese ethnicity presented to our hematology unit with headache, lethargy, and exertional dyspnea for the past 1 month. He underwent an uneventful cadaveric renal transplant 20 years ago for chronic glomerulonephritis-induced end-stage renal disease. He had been on long-term immunosuppressants since then consisting of orally administered prednisolone 10 mg daily and orally administered cyclosporine A 50 mg twice daily. On examination, he was pale with a palpable liver and spleen. He had a functioning renal graft. Marrow flow cytometry confirmed T-prolymphocytic leukemia with lymphocytes expressing CD2, CD3, CD7, CD52, and TCL-1. His human T-cell lymphotropic virus and Epstein-Barr virus serology and deoxyribonucleic acid (DNA) were negative. He was treated with one cycle of cyclophosphamide, doxorubicin, vincristine, and prednisone chemotherapy to which he failed to respond. In view of his renal allograft, he was not suitable for alemtuzumab due to the risk of nephrotoxicity. He was given orally administered venetoclax but he died on day 17 due to severe auto tumor lysis syndrome.
CONCLUSION: The place of immunophenotyping in the diagnosis and treatment of this disorder is of significant importance. More research needs to be carried out to further comprehend the pathophysiology and treatment modalities for this disorder.

Matched MeSH terms: Diagnostic Errors
Fulltext Iliac Telangiectatic Osteosarcoma - A Rare Presentation and Diagnostic Pitfall: A Case Report

Khaw YC, Wong JK, Sahran Y, Nor-Azman MZ, Faisham WI

Malays Orthop J, 2020 Nov;14(3):198-201.
PMID: 33403087 DOI: 10.5704/MOJ.2011.034

Telangiectatic osteosarcoma is a rare variant of osteosarcoma and can be easily misdiagnosed as aneurysmal bone cyst. We report an atypical case of iliac telangiectatic osteosarcoma in a young healthy female, who presents with painful slow growing expansile lytic septate lesion in the left hemipelvis, which is initially treated as aneurysmal bone cyst. The diagnosis of aneurysmal bone cyst is made after histopathological examination of core needle biopsy. Her condition became unstable and massive bleeding is noted at the lesion site after sclerosant injection. She undergoes emergency hemipelvectomy and eventually the biopsy turns up to be telangiectatic osteosarcoma. Our case highlights that core needle biopsy is not useful in making diagnosis for iliac telangiectatic carcinoma. Hence, an open biopsy should be carried out in our case. This case also emphasises on careful evaluation for malignancy which is mandatory because bleeding from pelvis after an unsuitable treatment can be grave, to the extent that major amputation hemipelvectomy is an option. Even though telangiectatic osteosarcoma has the same prognosis and treatment with conventional osteosarcoma, the outcome of delayed treatment for telangiectatic osteosarcoma is not good due to the dilemma in establishing an early correct diagnosis.

Matched MeSH terms: Diagnostic Errors
Fulltext Medical errors in primary care clinics--a cross sectional study

Khoo EM, Lee WK, Sararaks S, Abdul Samad A, Liew SM, Cheong AT, et al.

BMC Fam Pract, 2012 Dec 26;13:127.
PMID: 23267547 DOI: 10.1186/1471-2296-13-127

BACKGROUND: Patient safety is vital in patient care. There is a lack of studies on medical errors in primary care settings. The aim of the study is to determine the extent of diagnostic inaccuracies and management errors in public funded primary care clinics.
METHODS: This was a cross-sectional study conducted in twelve public funded primary care clinics in Malaysia. A total of 1753 medical records were randomly selected in 12 primary care clinics in 2007 and were reviewed by trained family physicians for diagnostic, management and documentation errors, potential errors causing serious harm and likelihood of preventability of such errors.
RESULTS: The majority of patient encounters (81%) were with medical assistants. Diagnostic errors were present in 3.6% (95% CI: 2.2, 5.0) of medical records and management errors in 53.2% (95% CI: 46.3, 60.2). For management errors, medication errors were present in 41.1% (95% CI: 35.8, 46.4) of records, investigation errors in 21.7% (95% CI: 16.5, 26.8) and decision making errors in 14.5% (95% CI: 10.8, 18.2). A total of 39.9% (95% CI: 33.1, 46.7) of these errors had the potential to cause serious harm. Problems of documentation including illegible handwriting were found in 98.0% (95% CI: 97.0, 99.1) of records. Nearly all errors (93.5%) detected were considered preventable.
CONCLUSIONS: The occurrence of medical errors was high in primary care clinics particularly with documentation and medication errors. Nearly all were preventable. Remedial intervention addressing completeness of documentation and prescriptions are likely to yield reduction of errors.

Matched MeSH terms: Diagnostic Errors/statistics & numerical data*
Fulltext An 80-year-old woman with left shoulder pain

Khoo SB

Malays Fam Physician, 2010;5(3):139-44.
PMID: 25606206 MyJurnal

This case history illustrates the real life experience and dilemma of an 80-year-old woman in pursuit of medical care for her left shoulder pain. Points for discussion range from clinical features of Pancoast tumor, importance of pain management, good principles of Family Medicine and Palliative care to ethical issues of conspiracy of silence, limited treatment plan and palliative versus curative radiotherapy treatment without a known biopsy report. This paper provides opportunity for analysis of a real complex clinical situation, application of medical knowledge to problem solving in clinical practice and relevant topics for discussions. (For anonymity sake, the names of patient, doctors, general and private hospitals are not mentioned. The aim of this paper is solely for continuous medical education without any intention to ridicule any party).

Matched MeSH terms: Diagnostic Errors
Factors involved in the diagnosis of oral squamous cell carcinoma in Malaysia

Khoo SP, Shanmuhasuntharam P, Mahadzir WM, Tay KK, Latif A, Nair S

Asia Pac J Public Health, 1998;10(1):49-51.
PMID: 10050209 DOI: 10.1177/101053959801000111

The delay in the diagnosis of oral cancer has been variously reported as being contributed by the clinicians, patients or both. The purpose of this study was to evaluate the referral pattern of 65 patients eventually diagnosed as having oral squamous cell carcinoma. The results showed that 50% of the patients delayed seeking professional help for more than 3 months after being aware of the lesion. The majority of the patients consulted medical practitioners as the first source of help. The mean clinicians' and patients' delay were 10.3 weeks and 28.9 weeks respectively. Dental practitioners showed a tendency to refer more advanced lesions compared to the medical practitioners. The findings raise the concern that lack of patients' awareness, misdiagnosis by clinicians and late detection by dental practitioners prevail thus calling for urgent measures towards early detection of the disease.

Matched MeSH terms: Diagnostic Errors/statistics & numerical data
Fulltext Delay In Diagnosis Of Oral Cancer In Malaysia: A Study Of Five Centres

Khoo, Suan Phaik, Shanmuhasuntharam, P., Mahadzir, W.M., Tay, K.K., Latif, A., Nair, S.

Ann Dent, 1996;3(1):-.
MyJurnal

The diagnosis of oral cancer have been variously reported as being due to delay by clinicians, patients or both. The purpose of this study was to evaluate the referral pattern of 65 patients eventually diagnosed as having oral squamous cell carcinoma. The results showed that 50% of the patients delayed seeking professional help for more than 3 months after being aware of the lesion. The majority of the patients consulted medical practitioners as the first source of help. The mean clinicians' and patients' delay were 10.3 weeks and 28.9 weeks respectively. Dental practitioners showed a tendency to refer on more advanced lesions compared to the medical practitioners. The findings raise the concern that lack of patients' awareness, misdiagnosis by clinicians and late detection by dental practitioners prevail thus calling for urgent measures towards early detection of the disease.

Matched MeSH terms: Diagnostic Errors
Primary hypoparathyroidism: hypocalcaemia misdiagnosed as epilepsy

Khor ZX, Pua QY, Tai YT

BMJ Case Rep, 2023 Oct 04;16(10).
PMID: 37793845 DOI: 10.1136/bcr-2023-257005
Matched MeSH terms: Diagnostic Errors
Paradoxical worsening of chest radiographs secondary to immune reconstitution syndrome (IRIS) in a patient with advanced HIV infection and Rhodococcus pneumonia

Koh KC, Ibrahim NM, Ong SCL

Med J Malaysia, 2020 03;75(2):164-166.
PMID: 32281599

We present a rare case of post-antiretroviral therapy (ART) paradoxically worsening of radiological findings in a patient with advanced HIV-infection on treatment for Rhodococcus pneumonia who was misdiagnosed with pulmonary tuberculosis. Despite clinical improvement, serial chest radiographs showed deteriorations a month after starting ART. This was attributed to Immune Reconstitution Inflammatory Syndrome (IRIS) which spontaneously resolved without any treatment.

Matched MeSH terms: Diagnostic Errors
Cutaneous larva migrans in a beach volleyball player

Krzywanski J, Kuchar E, Mierzynski R

IDCases, 2021;24:e01084.
PMID: 33889485 DOI: 10.1016/j.idcr.2021.e01084

Athletes playing beach volleyball come into contact with sand and may contract skin parasites. We present a case of cutaneous larva migrans in a 20-year-old Polish female beach volleyball player. The athlete participated in The World Tour in Asia (China, Malaysia, Cambodia) a month before. In the beginning, her skin lesions were misdiagnosed as allergic reactions and treated with antihistamines. The disease in the form of a pruritic, migratory serpiginous skin eruption on legs was diagnosed during routine medical examination at the National Centre for Sports Medicine in Warsaw. She was treated successfully with albendazole and cetirizine. The skin lesions resolved entirely within two weeks.

Matched MeSH terms: Diagnostic Errors
Fulltext Solitary rectal ulcer syndrome - a potential diagnostic and management dilemma for the surgeon

Kumar S, Talib A, Gul YA

Malaysian Journal of Medicine and Health Sciences, 2005;1(1):61-65.

Occult mucosal prolapse syndrome, also known as the solitary rectal ulcer syndrome (SRUS) is uncommon. Due to its rarity, a misdiagnosis of rectal cancer is occasionally made as the clinical features may closely mimic those of rectal malignancy. We hereby report a case of SRUS in an elderly Malay gentleman who had primary symptoms of rectal bleeding with associated anaemia and anorectal pain. Even though the clinical features and specific investigations suggested the presence of rectal cancer, preoperative histological analysis failed to confirm this. In view of the intractable symptoms and rectal bleeding, a low anterior resection was performed. A detailed examination of the resected specimen intraoperatively, together with the histological report and awareness of this condition avoided the performance of an abdomino-perineal resection. Incidently coexisting malrotation of the sigmoid colon to the right side was discovered during surgery. This finding, which may be coincidental, has not been reported thus far in the medical literature. The patient's symptoms improved postoperatively with a subsequent uneventful recovery. A brief literature review supplements this case report.
Keywords: Mucosal prolapse syndrome, solitary rectal ulcer syndrome, rectal cancer

Matched MeSH terms: Diagnostic Errors
Delay and misdiagnosis in adult myasthenia gravis: A case report

Kwa, Siew Kim, Zainab Abdul Majeed, Tan, Kah Nian

International e-Journal of Science, Medicine & Education, 2016;10(3):37-39.
MyJurnal

Myasthenia gravis (MG) is a rare autoimmune disorder
characterised by fluctuating and variable combination
of muscle weakness and fatigue. Most cases are due to
T-cell mediated autoantibodies against post-synaptic
acetylcholine receptors (AChR-Ab), thus preventing
acetylcholine from binding and signalling skeletal
muscle to contract.1
The annual incidence is 7-23 new cases per million.1
It can occur at any age but with two peaks; an earlyonset
(20-40 years) female-predominant and a late-onset
(60-80 years) male-predominant peak. MG is classified
into ocular and generalised (80%). More than half the
patients initially present with ptosis and diplopia but half
will progress to generalised disease with involvement of
bulbar, limb and respiratory weakness. Those presenting
as generalised MG can also develop eye signs later.1
It is important to recognise MG early because it is
highly treatable. Untreated disease leads to permanent
weakness.2 Treatment reduces mortality from lifethreatening
myasthenic crisis.1,3 Misdiagnosis leads to
potentially harmful interventions and inappropriate
management.4,5 Diagnosis in late-onset MG is easily
missed2,3,4,5 because of overlapping symptoms with
other diseases common in the elderly. We report a case
of delay and misdiagnosis in an elderly patient with
co-morbidities. (Copied from article).

Matched MeSH terms: Diagnostic Errors
Fulltext Over-investigated and under-treated: children with febrile convulsion in a Malaysian district hospital

Lai NM, Tan ML, Quah SY, Tan EL, Foong KW

Singapore Med J, 2010 Sep;51(9):724-9.
PMID: 20938614

We conducted a retrospective audit on the inpatient assessment and care of children admitted with febrile convulsion to Hospital Batu Pahat, a district hospital in Malaysia, using the Malaysian national clinical practice guidelines and the American Academy of Paediatrics practice parameters on febrile convulsion as the reference standards.

Matched MeSH terms: Diagnostic Errors
Fulltext Acute appendicitis--the University Hospital experience

Lee HY, Jayalakshmi P, Noori SH

Med J Malaysia, 1993 Mar;48(1):17-27.
PMID: 8341168

A 1 year review of 529 cases of acute appendicitis, treated at the University Hospital in 1990, was performed. Perforation rate was 23.7% and delay in diagnosis was found to be significant. Patients above 50 years of age were particularly at risk. Diagnostic error was 19.3% and it was a problem not only in young women but also in children. Temperature and rectal examinations were not found to be helpful in the diagnosis in contrast to leukocytosis. Waiting time for operation was long (median 7 hours), be it for a perforated or a nonperforated appendicitis.

Matched MeSH terms: Diagnostic Errors
Fulltext Positive direct antiglobulin test with Unasyn--a case report

Leong CF, Cheong SK, Fadilah SA

Med J Malaysia, 1999 Dec;54(4):517-9.
PMID: 11072473

A 56-year-old Chinese lady with valvular heart disease and atrial fibrillation was referred to us from a private hospital for further management of autoimmune haemolytic anaemia. Physical examination and laboratory investigations did not support the diagnosis of haemolytic anaemia. However, direct antiglobulin test (DAT) was strongly positive with anti-IgG and negative with anti-C3d. There was also mild anaemia and reticulocytosis, which was attributable to persistent haematuria. The DAT became positive after commencing Unasyn and cessation was associated with decreasing reactivity of the positive DAT. We believe that the positive DAT in this patient was most likely due to the Unasyn therapy.

Matched MeSH terms: Diagnostic Errors
Fulltext Blau Syndrome Associated with Nucleotide-binding Oligomerization Domain Containing 2 Mutation in a Baby from Malaysia

Leong KF, Sato R, Oh GGK, Surana U, Pramono ZAD

Indian J Dermatol, 2019 9 24;64(5):400-403.
PMID: 31543536 DOI: 10.4103/ijd.IJD_44_18

Blau syndrome (BS) is a very rare autosomal dominant juvenile inflammatory disorder caused by mutation in nucleotide-binding oligomerization domain containing 2 (NOD2). Usually, dermatitis is the first symptom that appears in the 1st year of life. About 220 BS cases with confirmed NOD2 mutation have been reported. However, the rarity and lack of awareness of the disease, especially in the regions where genetic tests are very limited, often result in late diagnosis and misdiagnosis. Here, we report a de novo BS case from Malaysia, which may be the first report from southeast Asia. PCR and DNA sequencing of peripheral blood mononuclear cells were performed to screen the entire coding region of NOD2 gene. A heterozygous c.1000C>T transition in exon 4, p. R334W, of the NOD2 gene was identified in the patient. This report further reaffirms the ubiquitousness of the disease and recurrency of p. R334W mutation.

Matched MeSH terms: Diagnostic Errors

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