Initial Histopathologic Diagnosis Research Articles

Junctional Nevus and Early Melanoma on Sun-Damaged Skin of the Head/Neck: a Clinico-Pathologic Challenge.

Melanoma on the head/neck area can show subtle clinical, dermoscopic and histologic features at early stages, being difficult to differentiate from junctional nevi. This case series aims to raise awareness on the topic of misdiagnosis of early lentigo maligna as junctional nevi. From the databases of three pigmented lesion clinics in Italy, Australia, and France, we retrieved all cases of lesions of the head/neck area with an initial histopathologic diagnosis of junctional nevus (JN) or dysplastic junctional nevus (DJN) which subsequently recurred and were ultimately diagnosed as melanoma. Moreover, we also retrieved those cases with an initial diagnosis of JN/DJN made on a partial biopsy that were diagnosed as melanoma after complete surgical removal. Here we report 14 cases in which the initial histologic diagnosis was junctional nevus or dysplastic junctional nevus. The lesions recurred over time with a final diagnosis of lentigo maligna. Clinicians should critically question a given histologic diagnosis of junctional or dysplastic junctional nevus on the head/neck area if the clinical or dermoscopic features are discordant. Clinico-pathologic correlation is the best way to increase diagnostic accuracy and optimize management for the patient.

Time and Accuracy to Establish the Diagnosis of Soft Tissue Tumors: A Comparative Analysis from the Swiss Sarcoma Network.

Soft tissue tumors are rare tumors, and their histological examination remains a challenge. The establishment of the correct initial histopathologic diagnosis is critical. However, due to the rarity of soft tissue and bone tumors and the inherent difficulty of their classification and diagnostics, discrepancies may occur in up to one third of cases. For these reasons, several studies recommend the involvement of experienced pathologists frequently performing sarcoma diagnostics. Until now, there is only scarce information about how long it takes to establish a correct sarcoma diagnosis. We thus analyzed all consecutive patients presented to the Swiss Sarcoma Network Tumor Board (SSN-MDT/SB) with a primary diagnosis of a soft tissue tumor over a 2-year period (01/2019 to 12/2020) based on a tumor biopsy. We then compared the final histopathological diagnosis of two comparable institutions with similar case load, but different workflows: (i) institution A, with an initial diagnosis performed by a local pathologist, and reviewed by a reference pathologist, and (ii) institution B, with the final diagnosis performed directly by a reference pathologist. In addition, we analyzed the time from biopsy to establishment of the diagnosis. A total of 347 cases were analyzed, 196 from institution A, and 149 from institution B. In 77.6% of the cases, the diagnosis from the local pathologist was concordant with the expert review. Minor discrepancies were found in 10.2% of the cases without any consecutive changes in treatment strategy. In the remaining 12.2% of the cases, there were major discrepancies which influenced the treatment strategy directly. Establishing the final report took significantly longer in institution A (4.7 working days) than in institution B (3.3 working days; p < 0.01). Our results confirm the importance of a pathological second review by a reference pathologist. We recommend direct analysis by experts, as diagnoses can be made more accurately and quickly. Within the SSN, establishing the sarcoma diagnosis is overall accurate and quick but still can be improved.

IDH mutation status and the development of venous thromboembolism in astrocytoma patients

BackgroundVenous thromboembolism (VTE) is a very common adverse event for astrocytoma patients, but validation of proposed risk biomarkers has been elusive. We examine whether the status of the isocitrate dehydrogenase (IDH) gene is a risk factor for the development of venous thromboembolism (VTE) in astrocytoma patients. MethodsWe conducted a retrospective chart review of 282 astrocytoma patients enrolled in the PROACTIVE (Prospective Assessment of Correlative Biomarker) study at MD Anderson Cancer Center (MDACC) from 9/1/2000 until 12/31/2013. ResultsWe identified 282 astrocytoma patients consisting of 49 IDH mutant astrocytomas and 233 IDH wildtype astrocytomas. Glioblastoma was the initial histopathologic diagnosis in 30 (61.2%) of the IDH mutated astrocytomas compared to 227(97.4%) of the IDH wild type astrocytomas. VTE was identified in 52 (18.4%) of patients. VTE was diagnosed in 7 (14.3%) of the IDH mutated astrocytomas compared to 45(19.3%) of the IDH wild type astrocytoma s (p = 0.4094). Median time to VTE from diagnosis was 2.71 months. Median time to VTE from diagnosis was 2.6 months for IDH mutated astrocytomas compared to 3.06 months for the IDH wild type astrocytomas (p = 0.8663). ConclusionsIDH gene status did not appear as a significant risk factor for the development of venous thromboembolism (VTE) in our cohort of astrocytoma patients. Further research into potential biomarkers for VTE may be warranted.

Impact of expert review of histological diagnosis of papillary and follicular thyroid cancer.

Histologic and pTNM classification of differentiated thyroid cancer (DTC) is mandatory to assess risk of relapse, risk of death, and radioactive iodine administration. The impact of an expert central review of external pathology reports has not yet been reported. Monocentric retrospective study to evaluate the difference between initial and second-opinion histopathologic diagnosis for DTC patients referred for post-operative radioactive iodine administration between January 2014 and December 2016. We evaluated major discordance (change of diagnosis from malignant to benign or in main histological subtype or a description of aggressive pathological subtypes), minor discordance (change in histological subtype or description of an aggressive component, multifocality or extrathyroidal extension), and change in ATA classification. A second-opinion histological diagnosis was available for 199 patients. A major discordance was observed in 42 (21%) cases (changes in malignancy in 4 cases, changes in main histological subtype in 22, changes in aggressive pathology variants of PTC in 16). One hundred and four minor discordances were observed regarding 92 patients. These histopathological changes led to changes in the ATA 2015 risk stratification classification in 61 (31%) of cases. There were no predictive factors of major/minor histologic changes or ATA risk stratification changes. Expert central review of pathology has an impact on the 2015 ATA risk stratification classification that can lead to changes in the management of patients with differentiated thyroid cancer.

Pityriasis Lichenoides, Atypical Pityriasis Lichenoides, and Related Conditions

Pityriasis lichenoides (PLs) is an uncommon skin disease of unknown etiology. In recent years, an atypical form of PL has been described, showing overlapping features with mycosis fungoides (MF) and lymphomatoid papulosis. We studied 66 patients with an initial histopathologic diagnosis of PL (M:F=34:32; median age, 25 y; range, 7 to 85 y). According to clinical and phenotypic features, cases were classified into 4 categories: (1) Conventional PL (characteristic clinical features of PL without phenotypic aberrations) (n=20; M:F=8:12; median age, 37 y; range, 9 to 74 y); (2) Atypical form of PL (characteristic clinical features of PL with phenotypic aberrations) (n=25; M:F=16:9; median age, 21 y; range, 7 to 72 y). Four of these patients subsequently developed MF; (3) Lymphomatoid papulosis (waxing and waning lesions and positivity for CD30) (n=10; M:F=4:6; median age, 41 y; range, 16 to 83 y); (4) MF (clinical features typical of MF) (n=11; M:F=6:5; median age, 17 y; range, 8 to 85 y). Molecular analyses of clonality of the infiltrate did not reveal relevant differences among these 4 groups. Our study suggests that patients with an initial histopathologic diagnosis of PL may belong to different groups, showing that clinicopathologic correlation and complete phenotypic analyses are paramount in order to achieve proper classification. Although the relationship between PL and MF is yet a matter of debate, at the present state of knowledge, patients with a clinicopathologic presentation consistent with PL but with aberrant phenotypic features should be monitored in order to detect a possible evolution into MF.

Use of the National Institutes of Health Consensus Guidelines Improves the Diagnostic Sensitivity of Gastrointestinal Graft-Versus-Host Disease.

- Graft-versus-host disease of the gastrointestinal tract is a common complication of hematopoietic stem cell transplant associated with significant morbidity and mortality. Accurate diagnosis can be difficult and is a truly clinicopathologic endeavor. - To assess the diagnostic sensitivity of gastrointestinal graft-versus-host disease using the 2015 National Institutes of Health (NIH) histology consensus guidelines and to analyze histologic findings that support the guidelines. - Patients with allogeneic hematopoietic stem cell transplants were identified via a retrospective search of our electronic medical records from January 1, 2005, to January 1, 2011. Endoscopies with available histology were reviewed by 2 pathologists using the 2015 NIH guidelines. The clinical diagnosis was used as the gold standard. A nontransplant set of endoscopic biopsies was used as a control. - Of the 250 total endoscopies, 217 (87%) had a clinical diagnosis of gastrointestinal graft-versus-host disease. Use of the NIH consensus guidelines showed a sensitivity of 86% and a specificity of 65%. Thirty-seven of 58 (64%) cases with an initial false-negative histopathologic diagnosis were diagnosed as graft-versus-host disease on our review. - Use of the NIH histology consensus guidelines results in a high sensitivity and specificity, thereby decreasing false-negatives. Additionally, use of the NIH guidelines aids in creating uniformity and diagnostic clarity. Correlation with clinical and laboratory findings is critical in evaluating the differential diagnosis and to avoid false-positives. As expected, increased apoptosis with decreased inflammation was associated with a pathologic diagnosis of graft-versus-host disease and supports the NIH guidelines.

Diagnostic Change From Atypical Intraepidermal Melanocytic Proliferation to Melanoma After Conventional Excision-A Single Academic Institution Cross-Sectional Study.

Atypical intraepidermal melanocytic proliferation (AIMP) is a histopathologic diagnosis with uncertain malignant potential and presents a surgical management dilemma for clinicians. To identify the associated clinical and histopathologic factors and the frequency of diagnostic change to melanoma after conventional excision of AIMP. Retrospective cross-sectional study of 306 AIMPs treated by conventional excision. Diagnostic change to melanoma occurred in 4.2% (13/306) of AIMP lesions after histopathologic review of the excision specimen; melanomas were in situ in 85% (11/13) and invasive in 15% (2/13) of cases. Factors associated with diagnostic change to melanoma included anatomic location on the head and neck (Odds ratio [OR] 8.49, 95% confidence interval [CI] 2.17, 33.19; p = .001) and acral areas (OR 9.24, 95% CI 2.18, 39.24; p = .001), lesion extension to the base of the biopsy specimen (OR 13.07, 95% CI 2.98, 57.31; p = .001), biopsy using the punch technique (OR 6.06, 95% CI 1.95, 18.86; p = .013), and melanoma in the initial biopsy's histopathologic differential diagnosis (OR 13.29, 95% CI 1.71, 103.57; p = .001). Preoperative counseling and surgical planning for AIMP should be individualized to account for potential diagnostic change to melanoma, especially when specific risk factors are present.

“Apocrine Hidrocystoma and Cystadenoma”–like Tumor of the Digits or Toes

Digital papillary carcinoma (DPC) is a rare, underreported, and often misdiagnosed malignant tumor of the sweat glands. It is often located on the digits and toes and most commonly occurs in male individuals in their fifties to seventies. Because of lack of pain, slow growth, and an inconspicuous appearance, clinical diagnosis is often missed or delayed. In contrast, apocrine hidrocystoma (AH) is a cystic adenoma that arises from the apocrine secretory coil, and it is extremely rare for AHs to develop on the digits. We report 7 cases of DPC, including clinical course, histopathologic and immunohistochemical findings, and therapeutic approach in which the initial histopathologic diagnosis in all cases was AH or cystadenoma. However, complete excision of the neoplasms led to a final diagnosis of DPC. After an adequate treatment, no recurrence or metastasis was found in any of the cases described. All the cases studied showed similar histopathologic and immunohistochemical findings. The initial incisional biopsy showed large unilocular or multilocular cystic spaces situated within the dermis, lined by a double layer of epithelial cells with tiny papillary structures. No cellular atypia, necrosis, or pleomorphism was observed. However, complete excision revealed neoplastic lesions involving the dermis and/or subcutis, with an infiltrative pattern and papillary projections into luminal spaces. Immunoperoxidase studies showed positivity for CK7, S-100 protein, CEA, p63, smooth muscle actin, and calponin. DPC is a rare but life-threatening malignancy, therefore it is important to be able to identify such a lesion both clinically and histopathologically, treat it, and monitor the patient for the tumor's potential recurrence and metastasis. Pathologists and dermatopathologists should be aware that a histopathologic diagnosis of AH or cystadenoma on the fingers and toes should be established with caution, because probably those lesions represent the superficial and cystic component of an underlying DPC, and a wider excision should be performed.

Evaluation of outcome and prognostic factors for dogs living greater than one year after diagnosis of osteosarcoma: 90 cases (1997-2008).

To evaluate clinical characteristics, outcome, and prognostic variables in a cohort of dogs surviving > 1 year after an initial diagnosis of osteosarcoma. Retrospective case series. 90 client-owned dogs. Medical records for an 11-year period from 1997 through 2008 were reviewed, and patients with appendicular osteosarcoma that lived > 1 year after initial histopathologic diagnosis were studied. Variables including signalment, weight, serum alkaline phosphatase activity, tumor location, surgery, and adjuvant therapies were recorded. Median survival times were calculated by means of a Kaplan-Meier survival function. Univariate analysis was conducted to compare the survival function for categorical variables, and the Cox proportional hazard model was used to evaluate the likelihood of death > 1 year after diagnosis on the basis of the selected risk factors. 90 dogs met the inclusion criteria; clinical laboratory information was not available in all cases. Median age was 8.2 years (range, 2.7 to 13.3 years), and median weight was 38 kg (83.6 lb; range, 21 to 80 kg [46.2 to 176 lb]). Serum alkaline phosphatase activity was high in 29 of 60 (48%) dogs. The most common tumor location was the distal portion of the radius (54/90 [60%]). Eighty-nine of 90 (99%) dogs underwent surgery, and 78 (87%) received chemotherapy. Overall, 49 of 90 (54%) dogs developed metastatic disease. The median survival time beyond 1 year was 243 days (range, 1 to 1,899 days). Dogs that developed a surgical-site infection after limb-sparing surgery had a significantly improved prognosis > 1 year after osteosarcoma diagnosis, compared with dogs that did not develop infections. Results of the present study indicated that dogs with an initial diagnosis of osteosarcoma that lived > 1 year had a median survival time beyond the initial year of approximately 8 months. As reported previously, the development of a surgical-site infection in dogs undergoing a limb-sparing surgery significantly affected prognosis and warrants further study.

Is it time to incorporate fludeoxyglucose PET/CT markers into sarcoma prediction models?

Sarcomas are relatively rare primary malignan­ cies that originate from the embryonic meso­ derm and are responsible for less than 1% of adult cancers, but comprise approximately 6% of childhood malignancies [1]. Despite aggres­ sive therapy, including surgery, adjuvant chemo­ therapy and radiotherapy, sarcoma patients’ prognosis remains guarded and overall survival has not improved substantially over the past few decades; 40% of patients with high­grade lesions will die from metastatic disease [1]. At initial histopathologic diagnosis, sarcoma grading is a fundamental step in patient evalua­ tion and plays a prominent role in overall stag­ ing. As recognized by WHO, there are two principle grading systems – the National Cancer Institute and the French Federation of Cancer Centers Sarcoma Group (FNCLCC) [2]. The more widely­used FNCLCC grade is based on three parameters: tumor differentiation, mitotic activity and necrosis. Each of these parameters receives a score: differentiation (1–3), mitotic activity (1–3) and necrosis (0–2). The sum of the scores generates a grade: grade 1 is a score of 2–3, grade 2 is 4–5 and grade 3 is 6–8. Sarcomas are extremely heterogeneous tumors, which often contain high­grade components, in addition to lower­grade areas. Frequently, sarcomas show intraturmoral necrosis, further complicating histopathological assessment. As a result of this heterogeneity, difficulty arises in accurately grading sarcomas as the assessment becomes dependent on which part of the sarcoma was biopsied and/or selected for histologic exam­ ination by the pathologist. Significant patholo­ gist interobserver variability exists when deter­ mining the histological sarcoma type, presence of necrosis and quantifying mitotic activity [3]. Given the importance of accurately determining tumor grade – and subsequently prognosis and

Epidermolysis Bullosa Pruriginosa

Epidermolysis bullosa (EB) pruriginosa is a rare variant of dystrophic EB. It may manifest late in life and is characterized by intense pruritus, resulting in a phenotype resembling acquired inflammatory dermatoses. Dermatopathology textbooks include hereditary forms of EB among the "cell-poor" list of subepidermal blistering disorders. We report a case of dominant dystrophic EB pruriginosa with late-onset cutaneous manifestations. A biopsy specimen showed subepidermal blistering with prominent inflammatory cells, including numerous eosinophils. Unfamiliarity with the distinctive clinicopathologic features of EB pruriginosa led to an initial erroneous histopathologic diagnosis of an acquired autoimmune blistering disorder. Direct immunofluorescence study results were negative for immune reactants. A strong clinical suspicion of hereditary EB pruriginosa led to mutation analysis of COL7A1, which confirmed a novel, heterozygous nonglycine missense mutation. Subsequently, 2 other family members who had nail dystrophy were also correctly diagnosed as having dominant dystrophic EB, highlighting the clinical spectrum of the disorder and the intrafamilial variability in disease presentation. The clinical features of EB pruriginosa are becoming more widely recognized, but dermatologists, dermatopathologists, and histopathologists should be aware that inflammatory infiltrates and late presentation are potential pitfalls in correctly diagnosing this subtype of hereditary EB.

Primary Blastomycosis of Oral Cavity

Blastomycosis is an uncommon male-predominant disease caused by the fungus Blastomyces dermatitidis. The lungs are most commonly affected, and other organs are usually involved by dissemination. Clinical feature and pathohistologic findings are similar to the appearance of squamous cell carcinoma. A 52-year-old male patient who has lived as a farmer on the countryside in Argentina for 35 years presented with an initial histopathologic diagnosis of a squamous cell carcinoma of the right lower jaw. There was no history of pulmonary disease, in particular fever, coughing, or hemoptysis. Final pathohistologic evaluation after resection revealed B. dermatitidis infection. This article presents the first described case of oral manifestation of B. dermatitidis infection in Switzerland. Manifestation of blastomycosis in oral tissue can mimic the feature of a squamous cell carcinoma and can therefore be a diagnostic pitfall that head and neck surgeons and a pathologist should be aware of.

Early molar pregnancy: experience in a large abortion service

Background With 1.1 million US women having first-trimester abortions annually, clinicians have an opportunity to diagnose molar pregnancy early. Early moles, however, may lack “classic” diagnostic hallmarks. Study Design This study aimed to assess the accuracy of the diagnosis of hydatidiform mole in women seeking abortion services at a large Planned Parenthood affiliate. We retrospectively identified women with a histopathologic diagnosis of mole from the affiliate's risk management database. The tissue specimens were reviewed by an expert independent pathologist and analyzed by flow cytometry and p57 KIP2 immunohistochemical staining to clarify the diagnosis. Results Of 21 patients who received an initial histopathologic diagnosis of mole, only six proved to have the condition. The interobserver correlation coefficient (kappa) for pathology examination was (−) 0.353. Overdiagnosis of partial moles was the most common error. Conclusions Improved, cost-effective strategies for detection of early moles would benefit patients and providers.

Glomus Tumor Presenting as a Periurethral Mass

Glomus tumors, a neoplasm arising from the glomus body, usually occur in the extremities with a particular predisposition to a subungual site. Glomus tumors are exceedingly rare in the external genitalia. In this case, the origin of a periurethral mass proved to be a glomus tumor. A 61-year-old woman presented with postmenopausal vaginal bleeding. Clinical examination revealed a focally ulcerating, soft periurethral mass. A subsequent wedge biopsy of a periurethral, submucosal tumor was examined microscopically using both hematoxylin and eosin stains and an extensive immunohistochemical panel. The initial histopathologic differential diagnosis of the wedge biopsy included several neoplasms, but final analysis, including immunohistochemistry (vimentin, desmin, and calponin positivity), concluded that the lesion was a glomus tumor. Periurethral masses are rare and may be caused by a large number of neoplastic and nonneoplastic lesions. This case of glomus tumor presenting as a periurethral mass may be the only third reported occurrence.

A case of neglected inverted papilloma with invasion to the skin

Inverted papilloma is an uncommon and locally aggressive benign tumour of the sinonasal region, which tends to recur after surgical resection and is occasionally associated with squamous cell carcinoma. The following report describes the initial history, physical examination, radiological studies, operative and histopathologic reports and differential diagnosis of a case of inverted papilloma with wide extension into the adjacent structures and unique clinical appearance.

Treatment of Hodgkin's Disease: A Twenty-Year Follow-up of Patients at a Center in Korea

Hodgkin's disease (HD) is a hematologic malignancy which shows common features regardless of race, but racial differences may be considered with certain clinical characteritcs. HD in Korea shows somewhat different characteristics when compared to cases in Western countries. We evaluated the clinical and histopathologic characteristics of HD, the outcomes of various chemotherapy regimens, and prognostic factors of HD in Korea. One hundred and five patients with initial histopathologic diagnosis of Hodgkin's disease were retrospectively reviewed 20 years after diagnosis at Yonsei University College of Medicine. Nodular sclerosis was the most common histopathogic subtype (41%) and mixed cellularity was nearly as common (40%). The overall complete remission rate (CR) was 87.6%. The disease-free survival (DFS) and overall survival (OS) rate were 79.2% and 84.8% at 5-years, 70% and 79.2% at 10- and 20-years. There were no significant differences in CR rate and DFS, but OS rates were significantly higher in m-BACOP and ABVD regimen. Univariate analysis revealed that age, B-symptom, ECOG scale, Ann Arbor stage, international prognostic index, and serum β2-microglobulin level were significant prognostic factors for both DFS and OS. Multivariate analysis demonstrated that age, B symptoms, and ECOG scale were significant prognostic factors for OS only. In conclusion, the survival rates of HD patients in our center were superior to those of previous reports in Korea and Western countries. Considering the higher OS rate and decreased incidence of side effects, the ABVD regimen may be recommended for the initial treatment of Hodgkin's disease.

Dysplastic nodules frequently develop into hepatocellular carcinoma in patients with chronic viral hepatitis and cirrhosis

Advances in imaging technology have enhanced the detection of small nodular lesions during the course of chronic liver disease. Between 1995 and 2002, the authors examined 154 consecutive patients with small hepatic nodules without hepatocellular carcinoma (HCC) over a median duration of 2.8 years. The median size of these nodules was 14 mm (range, 7-40 mm). The initial histopathologic diagnosis included high-grade dysplastic nodule (HGDN) (n=13), low-grade dysplastic nodule (LGDN) (n=42), and regenerative nodule (RN) (n=99). A total of 29 (18.8%) nodules developed into HCC during the observation period. Cumulative HCC development rates at the first, third, and fifth year were 46.2%, 61.5%, and 80.8% for HGDN; 2.6%, 30.2%, and 36.6% for LGDN; and 3.3%, 9.7%, and 12.4% for RN, respectively. The rate of HCC development was significantly higher in the HGDN group than for other types (P<0.001). Multivariate analysis disclosed that histopathologic diagnosis (P<0.001) and findings on computed tomographic arterial portography (CT-AP) (P=0.004) were significantly associated with future HCC development. The hazard ratios of HGDN and LGDN were 16.8 (95% confidence interval [CI], 6.19-45.6) and 2.96 (95% CI, 1.20-7.31), respectively. A decrease in portal blood flow also showed a significantly high hazard ratio of 3.04 (95% CI, 1.42-6.50). Approximate annual development rate to HCC was 20% in patients with HGDN and 10% in LGDN. HGDN should be considered a precancerous lesion when it appears during follow-up of chronic viral hepatitis or cirrhosis. Reduced portal blood flow in the nodule on computed tomography-AP is also an important predictor for development of hepatocellular carcinoma.

Multimodal genetic diagnosis of solid variant alveolar rhabdomyosarcoma

The most common types of rhabdomyosarcoma (RMS) are alveolar RMS (ARMS), which are characterized by the specific translocation t(2;13)(q35;q14) or its rarer variant, t(1;13)(p36;q14), producing the fusion genes PAX3-FKHR and PAX7-FKHR, respectively, and embryonal RMS (ERMS), which is characterized by multiple numeric chromosome changes. A solid variant of ARMS that is morphologically indistinguishable from ERMS has been described recently. We present two cases with an initial histopathologic diagnosis of ERMS in which the combined findings by cytogenetic, reverse-transcriptase polymerase chain reaction (RT-PCR), and comparative genomic hybridization (CGH) analyses demonstrate that both tumors were in fact the solid variant of ARMS. The cytogenetic analysis of patient 1 revealed a t(2;13)(q35;q14) and the RT-PCR study detected the corresponding PAX3-FKHR chimeric transcript. In patient 2, the cytogenetic finding of multiple trisomies was compatible with the initial histopathologic diagnosis of ERMS, but the finding of a PAX7-FKHR fusion transcript by RT-PCR pointed to the diagnosis of ARMS. Interestingly, the CGH findings of this case reconciled the molecular and cytogenetic data by detecting, in addition to the trisomies, amplification of chromosomal bands 1p36 and 13q14, where the PAX7 and FKHR genes are located, respectively. Our data indicate that this multimodal genetic analysis could be important for the differential diagnosis of these tumors. Furthermore, our findings and previous studies indicate that there are no apparent genetic differences between solid variant and typical ARMS.

Primary malignant rhabdoid tumor of the central nervous system – a comprehensive review

This paper presents the case of an eight-year-old girl who presented with headache and vomiting and was found to harbor a right fronto-temporo-parietal, partially cystic and centrally solid tumor that measured 11 x 8 x 7 cm. This vascular tumor was gross totally removed. The initial histopathologic diagnosis was hemangiopericytoma and the patient received a total dose of 5330 cGy of external cranial radiation. Twelve months later, the patient presented with left lower quadrant pain and limping and the spinal MR scans showed metastases at T4-5, T7, T12-L1 and L3 levels. The voluminous lesion at T12-L1 was surgically removed. Histopathological examination of both specimens revealed that both tumors in fact were malignant rhabdoid tumor (MRT). The patient did not benefit from spinal surgery and died 4 months later. A review of the literature has shown that since Briner et al'. first report in 1985 [Pediatr Pathol 3: 117-118, 1985], 100 MRT cases have been published. More than two-thirds of reviewed cases presented with local recurrence or subarachnoid spread after a mean period of 6.9 months after diagnosis and died two months later. Infratentorial and pineal location and surgery limited to biopsy were poor prognostic indicators. Twenty-two cases remained alive at a mean period of 24.5 months. The longest survival with an intracranial MRT was 65 months. Of those remaining alive, 15 had no evidence of disease (NED). Our case is the first MRT case immunopositive for HMB-45 and has also shown that the MRT cells grow aggressive over time as demonstrated by a four-fold increase in MIB-1 labeling index.

Eight-year experience of malignant lymphoma--survival and prognostic factors.

Several reports have suggested a geographic difference in the histopathologic characteristics and prognosis of malignant lymphoma around the world. We tried to evaluate the clinical and histopathologic characteristics, therapeutic outcomes, and prognostic features of malignant lymphoma, particularly in Korean patients. Three hundred and seventy-six adult patients with the initial histopathologic diagnosis of malignant lymphoma of Yonsei University College of Medicine over an 8-year period were analyzed, retrospectively, with the following results: 1) There were 47 cases of Hodgkin's disease (HD) (12.5%) and 329 of non-Hodgkin's lymphoma (NHL) (87.5%) with a 1:7 ratio. The most common histopathologic subtype of HD was mixed cellularity (44.7%), and that of NHL was intermediate grade (70.8%), especially diffuse large-cell type (44.1%), whereas follicular type was less common. In regard to the incidence of extranodal presentation, it is rare in HD (4.2%), but occurs in 49.8% of patients with NHL. 2) The complete remission (CR) rate was 91.5% in HD and 63.6% in NHL, and the 5-year and 7-year disease-free survival rates were 71.3% and 57.0% in HD; 67.0% and 49.6% in NHL. The 5-year and 8-year overall survival rates were 90.7% and 68.0% in HD; 65.2% and 60.2% in NHL. 3) By multivariate analysis, we found that age, performance status, histopathologic grade, stage, serum lactate dehydrogenase (LDH) and beta 2-microglobulin were the useful prognostic factors in predicting survival in NHL, while no definite prognostic factors were found in HD. Also, in NHL patients less than 60 years old, stage, serum LDH, and histopathologic grade were closely associated with their therapeutic outcomes. In conclusion, the characteristics of malignant lymphoma in our hospital differ from those in Western countries with respect to the clinical, histopathologic and immunophenotypic patterns, but the prognostic factors and overall therapeutic outcomes were quite comparable to those of other reports from Western countries.