Clinical and pathological features of myeloid leukemia cutis.

BACKGROUND: Myeloid leukemia cutis is the terminology used for cutaneous manifestations of myeloid leukemia. OBJECTIVE: The purpose of this study was to study the clinical, histopathological and immunohistochemical features of myeloid leukemia cutis. METHODS: This was a retrospective study of clinical and pathological features of 10 patients with myeloid leukemia cutis. RESULTS: One patient developed skin lesions before the onset of leukemia, seven patients developed skin infiltration within 4-72 months after the onset of leukemia, and two patients developed skin lesions and systemic leukemia simultaneously. Of these patients, five presented with generalized papules or nodules, and five with localized masses. The biopsy of skin lesions showed a large number of tumor cells within the dermis and subcutaneous fat layer. Immunohistochemical analysis showed strong reactivity to myeloperoxidase (MPO), CD15, CD43 and CD45 (LCA) in most cases. NPM1 (nucleophosmin I) and FLT3-ITD (Fms-like tyrosine kinase 3-internal tandem duplication) mutations were identified in one case. Five patients with acute myelogenous leukemia and one patient with chronic myelomonocytic leukemia died within two months to one year after the onset of skin lesions. STUDY LIMITATIONS: This was a retrospective and small sample study. CONCLUSIONS: In patients with myelogenous leukemia, skin infiltration usually occurs after, but occasionally before, the appearance of hemogram and myelogram abnormalities, and the presence of skin infiltration is often associated with a poor prognosis and short survival time. myeloid leukemia cutis often presents as generalized or localized nodules or masses with characteristic pathological and histochemical findings.

Clinical and pathological features of myeloid leukemia cutis

Abstract: Background: Myeloid leukemia cutis is the terminology used for cutaneous manifestations of myeloid leukemia. Objective: The purpose of this study was to study the clinical, histopathological and immunohistochemical features of myeloid leukemia cutis. Methods: This was a retrospective study of clinical and pathological features of 10 patients with myeloid leukemia cutis. Results: One patient developed skin lesions before the onset of leukemia, seven patients developed skin infiltration within 4-72 months after the onset of leukemia, and two patients developed skin lesions and systemic leukemia simultaneously. Of these patients, five presented with generalized papules or nodules, and five with localized masses. The biopsy of skin lesions showed a large number of tumor cells within the dermis and subcutaneous fat layer. Immunohistochemical analysis showed strong reactivity to myeloperoxidase (MPO), CD15, CD43 and CD45 (LCA) in most cases. NPM1 (nucleophosmin I) and FLT3-ITD (Fms-like tyrosine kinase 3-internal tandem duplication) mutations were identified in one case. Five patients with acute myelogenous leukemia and one patient with chronic myelomonocytic leukemia died within two months to one year after the onset of skin lesions. Study limitations: This was a retrospective and small sample study. Conclusions: In patients with myelogenous leukemia, skin infiltration usually occurs after, but occasionally before, the appearance of hemogram and myelogram abnormalities, and the presence of skin infiltration is often associated with a poor prognosis and short survival time. myeloid leukemia cutis often presents as generalized or localized nodules or masses with characteristic pathological and histochemical findings.

[Leukemia cutis: clinical features of 27 mexican patients and a review of the literature]. / Leucemia cutis (LC): características clínicas de 27 pacientes mexicanos y una breve revisión de la literatura.

BACKGROUND: Leukemia Cutis (LC) consists in neoplastic leukocytic infiltration of the skin and is strongly associated with the presence of extramedullary disease and poor prognosis. However, there are few studies in the literature regarding this entity. We perform a retrospective study of 27 mexican patients in order to analyze the clinical features and prognosis of LC in Mexico, and a brief review of the literature. METHODS: Cases diagnosed as LC by skin biopsy were selected from the database of the Department of Dermatology of National Institute of Medical Science and Nutrition Salvador Zubirán. Cases were searched between the dates of January 1993 and December 2013. RESULTS: Twenty-seven cases which were histologically confirmed with cutaneous leukemic infiltrate were included. Of these patients 60% were male and the mean age at diagnosis was 42 yr (19 to 80 yr). The predominant tipe of LC was acute myeloid leukemia (AML) with 48% of the cases. Nodular neoformations were the main clinical manifestation with 63% of the cases. The mean interval between the diagnosis of LC and death was 10 months (CI 95%). CONCLUSIONS: The presence of LC is a marker of poor prognosis and can precede the relapse of systemic leukemia. Cutaneous infiltration may be the first or the only sign of progression, so doctors should be familiar with the clinical manifestations of this disease.

Synthesis and evaluation of the cytotoxic activity of 1,2-furanonaphthoquinones tethered to 1,2,3-1H-triazoles in myeloid and lymphoid leukemia cell lines.

Leukemia is the most common blood cancer, and its development starts at diverse points, leading to distinct subtypes that respond differently to therapy. This heterogeneity is rarely taken into account in therapies, so it is still essential to look for new specific drugs for leukemia subtypes or even for therapy-resistant cases. Naphthoquinones (NQ) are considered privileged structures in medicinal chemistry due to their plethora of biological activities, including antimicrobial and anticancer effects. Nitrogen-containing heterocycles such as 1,2,3-1H-triazoles have been identified as general scaffolds for generating glycosidase inhibitors. In the present study, the NQ and 1,2,3-1H-triazole cores have been combined to chemically synthesize 18 new 1,2-furanonaphthoquinones tethered to 1,2,3-1H-triazoles (1,2-FNQT). Their cytotoxicities were evaluated against four different leukemia cell lines, including MOLT-4 and CEM (lymphoid cell lines) and K562 and KG1 (myeloid cell lines), as well as normal human peripheral blood mononucleated cells (PBMCs). The new 1,2-FNQT series showed high cytotoxic potential against all leukemia cell lines tested, and some compounds (12o and 12p) showed even better results than the classical therapeutic compounds such as doxorubicin or cisplatin. Others compounds, such as 12b, are promising because of their high selectivity against lymphoblastic leukemia and their low activity against normal hematopoietic cells. The cells of lymphoid origin (MOLT and CEM) were generally more sensitive than the myeloid cell lines to this series of compounds, and most of the compounds that showed the highest cytotoxicity were similarly active against both cell lines.

Low number of invariant NKT cells is associated with poor survival in acute myeloid leukemia.

BACKGROUND: T lymphocytes play an important role in the immunosurveillance of patients with hematologic malignancies. No study has so far examined the association between the number of lymphocyte subsets at diagnosis and overall survival (OS). We examined this relationship in adult patients with de novo acute myeloid leukemia (AML). METHODS: A longitudinal prospective study was conducted on 28 AML patients. Peripheral blood (PB) and bone marrow (BM) were obtained before chemotherapy to quantify the number of CD4+ and CD8+ T cells, natural killer (NK), invariant NKT (iNKT), and type-1 and type-2 dendritic cells. The Kaplan-Meier and Cox proportional hazard model were used to determine significant association between the number of each cell subtype and survival. RESULTS: BM counts of CD4+ lymphocytes >506.11/µL and CD8+ T lymphocytes >556.02/µL and a PB count of iNKT cells <0.2/µL were associated with poor OS by univariate analysis (P = 0.015, P = 0.009, P = 0.033 respectively). Multivariate analysis showed that an iNKT count <0.2 cells/µL is an independent prognostic factor for OS. CONCLUSION: An iNKT cell number of <0.2/µL confers a poor prognosis in de novo AML patients.

The recognition of N-glycans by the lectin ArtinM mediates cell death of a human myeloid leukemia cell line.

ArtinM, a D-mannose-binding lectin from Artocarpus heterophyllus (jackfruit), interacts with N-glycosylated receptors on the surface of several cells of hematopoietic origin, triggering cell migration, degranulation, and cytokine release. Because malignant transformation is often associated with altered expression of cell surface glycans, we evaluated the interaction of ArtinM with human myelocytic leukemia cells and investigated cellular responses to lectin binding. The intensity of ArtinM binding varied across 3 leukemia cell lines: NB4>K562>U937. The binding, which was directly related to cell growth suppression, was inhibited in the presence of Manα1-3(Manα1-6)Manß1, and was reverted in underglycosylated NB4 cells. ArtinM interaction with NB4 cells induced cell death (IC(50) = 10 µg/mL), as indicated by cell surface exposure of phosphatidylserine and disruption of mitochondrial membrane potential unassociated with caspase activation or DNA fragmentation. Moreover, ArtinM treatment of NB4 cells strongly induced reactive oxygen species generation and autophagy, as indicated by the detection of acidic vesicular organelles in the treated cells. NB4 cell death was attributed to ArtinM recognition of the trimannosyl core of N-glycans containing a ß1,6-GlcNAc branch linked to α1,6-mannose. This modification correlated with higher levels of N-acetylglucosaminyltransferase V transcripts in NB4 cells than in K562 or U937 cells. Our results provide new insights into the potential of N-glycans containing a ß1,6-GlcNAc branch linked to α1,6-mannose as a novel target for anti-leukemia treatment.

Acute myeloid leukemia of donor origin after allogeneic stem cell transplantation from a sibling who harbors germline XPD and XRCC3 homozygous polymorphisms.

A 54-year-old woman was diagnosed with infiltrative ductal breast carcinoma. Two years after treatment, the patient developed an acute myeloid leukemia (AML) which harbored del(11q23) in 8% of the blast cells. The patient was submitted for allogeneic stem cell transplantation (aSCT) from her HLA-compatible sister. Ten months after transplantation, she relapsed with an AML with basophilic maturation characterized by CD45(low) CD33(high), CD117⁺, CD13(-/+), HLA Dr(high), CD123(high), and CD203c⁺ blast cells lacking expression of CD7, CD10, CD34, CD15, CD14, CD56, CD36, CD64, and cytoplasmic tryptase. Karyotype analysis showed the emergence of a new clone with t(2;14) and FISH analysis indicated the presence of MLL gene rearrangement consistent with del(11q23). Interestingly, AML blast cell DNA tested with microsatellite markers showed the same pattern as the donor's, suggesting that this AML emerged from donor cells. Additionally, polymorphisms of the XPA, XPD, XRCC1, XRCC3 and RAD51 DNA repair genes revealed three unfavorable alleles with low DNA repair capacity.In summary, we report the first case of AML involving XPD and XRCC3 polymorphisms from donor origin following allogeneic stem cell transplantation and highlight the potential need for careful analysis of DNA repair gene polymorphisms in selecting candidate donors prior to allogeneic stem cell transplantation.

Expression of MICA, MICB and NKG2D in human leukemic myelomonocytic and cervical cancer cells.

BACKGROUND: Cancer cells are known to secrete the stress molecules MICA and MICB that activate cytotoxicity by lymphocytes and NK cells through their NKG2D receptor as a mechanism of immunological defense. This work was undertaken to evaluate if cancer cells can also express this receptor as a possible mechanisms of depletion of MIC molecules and thus interfere with their immune recognition. METHODS: Myelomonocytic leukemic (TPH-1 and U-937) and cervical cancer (CALO and INBL) cell lines were evaluated by Western Blot, ELISA, flow cytometry and immunocytochemistry to evaluate their capacity to express and secrete MICA and MICB and to be induced to proliferate by these molecules as well as to express their receptor NKG2D. Statistical analysis was performed by two-way ANOVA for time course analysis and Student's t-test for comparison between groups. Values were considered significantly different if p < 0.05. RESULTS: THP-1 and U-937 produce and secrete the stress MICA and MICB as shown by Western Blot of lysed cells and by ELISA of their conditioned media. By Western Blot and flow cytometry we found that these cells also express the receptor NKG2D. When THP-1 and U-937 were cultured with recombinant MICA and MICB they exhibited a dose dependent induction for their proliferation. CALO and INBL also produce MICA and MICB and were induced to proliferate by these stress molecules. By Western Blot, flow cytometry and immunocytochemistry we also found that these cells express NKG2D. CONCLUSIONS: Our novel results that tumor cells can simultaneously secrete MIC molecules and express their receptor, and to be induced for proliferation by these stress molecules, and that tumor epithelial cells can also express the NKG2D receptor that was thought to be exclusive of NK and cytotoxic lymphocytes is discussed as a possible mechanism of immunological escape and of tumor growth induction.

Apoptosis induction by (+)alpha-tocopheryl succinate in the absence or presence of all-trans retinoic acid and arsenic trioxide in NB4, NB4-R2 and primary APL cells.

We analyzed the effect of (+)alpha-tocopheryl succinate (alpha-TOS) alone or associated with arsenic trioxide (ATO) or all-trans retinoid acid (ATRA) in acute promyelocytic leukemia (APL). alpha-TOS-induced apoptosis in APL clinical samples and in ATRA-sensitive (NB4) and ATRA-resistant (NB4-R2) APL cell lines. The effective dose 50% (ED-50) was calculated to be 71 and 58muM, for NB4 and NB4-R2, respectively. alpha-TOS neither induced nor modified ATRA-induced differentiation of APL cells, and did not affect the proliferation and differentiation of normal CD34(+) hematopoietic progenitors in methylcellulose assays. alpha-TOS exerted a moderate antagonistic effect to ATO-induced apoptosis when treatment was done simultaneously but when alpha-TOS was added 24h after ATO, an additive effect was observed. Our results support the concept of alpha-TOS as an anti-leukemic compound which spares normal hematopoiesis.

In vitro biology of human myeloid leukemia.

For about 40 years, the biology of human myeloid leukemia (ML) has been studied in different in vitro systems. Throughout this time, semisolid colony assays, Dexter-type long-term cultures and liquid suspension cultures have contributed to our understanding of the mechanisms involved in the origin and progression of this hematological disorder. By using such systems, it has been possible to identify the cells in which leukemia originates; to recognize a functional hierarchy within the hematopoietic system of leukemia patients; to identify factors, soluble and cell-associated, that regulate leukemic growth; and to study the effects of different antineoplastic drugs. Furthermore, in vitro systems for purging of leukemic cells have been developed. Still, many questions and problems remain unsolved regarding the biology of myeloid leukemia in vitro. This article presents a comprehensive review on the behavior of leukemic stem and progenitor cells, both from acute and chronic myeloid leukemia, in the different culture systems mentioned above.

Tratamiento de la leucemia promielocítica aguda con acido transretinoico en dosis de 25 miligramos por metro cuadrado / Treatment of acute promyelocytic leukemia with acid trans dose of 25 milligrams per square meter

Se realizó un estudio observacional, descriptivo, de serie de casos, en el Hospital Esdcuela Dr. Roberto Calderón G. (HEDRCG) durante el periodo de 2002 al 2007, con el objetivo de determinar la respuesta a la administración de acido transretinoico en dosis de 25 mg/m cudrado de superficie corporal en los pacientes con diagnóstico de leucemia promielocitica aguda. Ingresados en el servicio de Heamto- ontología del Hospital en estudio. El universo lo constituyeron todos los pacientes diagnósticados con leucemia promielocitica aguda en el HEDRCG registrados en el servicio de estadísticas del Hospital. La muestra la conformaron 14 pacientes diagnósticados con leucemia promielocitica aguda en el HEDRCG durante el periodo de estudio que fueron seleccionados según criterios de inclusión y de exclusíon. No podemos dejar de mencionar que aunque nuestra muestra es poica, los estudios internacionales tampoco reportan en gran cantidad de pacientes, en la mayor parte los estudios no pasan de 25 pacientes estudiados. El 92 por ciento tenían manifestaciones de sangrado al ingreso al Hospital y la localización más frecuente fue la piel y mucosa...

Cytogenetic and morphological findings in 166 patients with de novo acute myeloid leukemia in southern Brazil.

Chromosomal rearrangements correlate with different clinical subgroups of blood disorders. Some of these chromosomal abnormalities are found in individuals from specific geographical areas and ethnic groups. A high incidence of t(15;17) translocation has been observed, for example, in the Hispanic populations of the United States and Spain. The same occurs in South America, due to the rich diversity of ethnic groups that colonized the region. We performed a cytogenetic analysis of 166 patients at the Division of Hematology of Hospital de Clínicas de Porto Alegre between 1990 and 2002. Those patients who met the criteria for de novo acute myeloid leukemia (AML) and whose karyotypes could be successfully determined were included in the study. The karyotypes of each patient and the French-American-British (FAB) criteria for the diagnosis of AML were reviewed. Chromosomal abnormalities were identified and classified according to ISCN 1995. Chromosomal abnormalities were found in 53.6% of cases. Abnormalities were significantly more common in the FAB-M3 group (70.3%). The most common balanced translocation was t(15;17), observed in 13.25% of the patients.

Selective cytotoxicity of withaphysalins in myeloid leukemia cell lines versus peripheral blood mononuclear cells.

Withaphysalins are C(28)-steroidal lactones structurally based on the ergostane skeleton that possess antiproliferative activity against tumor cell lines. In the present study, the antileukemic actvity of withaphysalin O (1), M (2), and N (3) isolated from Acnistus arborescens, against two leukemic cell lines, HL-60 and K562, was evaluated, and the cytotoxicity compared with the effects on peripheral blood mononuclear cells (PBMC). All tested compounds reduced the number of viable cells of the tumor cell lines after 24 h of exposure, except for compound 2 against the K562 cell line. The reduction was time-and concentration-dependent, and the IC(50) values ranged from 0.7 to 3.5 microM after 72 h of incubation. In addition to the growth inhibitory properties, the drugs decreased DNA synthesis after 24 h of drug exposure evaluated by the 5-bromo-2 -deoxyuridine incorporation method. None of the tested compounds reduced the number of PBMC (IC(50)>20 microM) after 72 h of incubation, in contrast to doxorubicin that decreased viable cells and increased non-viable cells even after 24 h of incubation. Morphological analysis of treated cells using hematoxylin/eosin staining indicated the presence of necrotic cells for all tested compounds in HL-60, confirmed by the use of acridine orange/ethidium bromide staining. In addition to necrotic cells, K562 cells showed morphological alterations consistent with apoptosis.

Concurrent development of Crohn disease and myelodysplastic syndrome in a child: case report and literature review.

A small number of cases of Crohn disease associated with myelodysplastic syndromes or leukemia have been reported in adults in the last 25 years in the English-language medical literature. The authors report a case of a 9-year-old boy who developed Crohn disease and myelodysplastic syndrome concurrently. Analysis of his bone marrow showed a chromosome 20 abnormality. Although chromosome 20 abnormalities have been reported in a minority of these patients, the significance of this association remains unclear at the present time.

Hematopoietic changes during progression from Fanconi anemia into acute myeloid leukemia: case report and brief review of the literature.

Fanconi anemia (FA) is a rare autosomal recessive disorder characterized by bone marrow (BM) failure and a wide array of physical abnormalities. Around 9% of FA patients develop acute myeloid leukemia (AML), which makes FA a good genetic model to study leukemogenesis. To date, however, no information exists on the functional integrity of the hematopoietic system of FA patients during the period in which they develop AML. Herein, we report on the characterization of hematopoietic progenitor cells from a pediatric FA patient that developed AML. Our results show that significant changes occurred in the hematopoietic system of the patient from the time he presented with FA to the time he developed AML. Such changes included marrow cellularity, frequency of CD34(+) cells and CFC, as well as proliferation potential of progenitor cells in liquid cultures supplemented with recombinant cytokines. Interestingly, no significant changes in the karyotype of marrow cells were observed, indicating that progression from FA into AML may proceed without major chromosomal alterations (i.e. translocations and/or deletions). This study represents one of the first steps towards the cellular characterization of the hematopoietic system in FA patients that develop AML.

[Orbital granulocytic sarcoma: case report]. / Sarcoma granulocítico em órbita: relato de caso.

Orbital granulocytic sarcoma is a localized tumor consisting of malignant cells of myeloid origin. This tumor may present in association with acute myelogenous leukemia. Granulocytic sarcoma may be found in a variety of locations throughout the body including the orbit and typically affects children and young adults. There is a slight male predominance in these cases. This is an uncommon case report of a 33-year-old Latin-American woman who was admitted to the Hospital for rapidly progressive orbital proptosis. There was no systemic manifestation of leukemia. The occurrence of orbital granulocytic sarcoma before the development of systemic leukemia in children and young adults is not uncommon and these cases frequently develop hematological evidence within 2 months after initial orbital disease. In this case report, there was no systemic manifestation of leukemia in the last 30 months, even in the presence of orbital tumors. Granulocytic sarcoma is most frequently confused with malignant lymphoma, rhabdomyosarcoma and neuroblastoma. The differential diagnosis of these cases can be challenging, particularly when there is no evidence of systemic leukemia, when imaging features are not sufficiently specific to distinguish granulocytic neoplasms from other tumors. To establish the diagnosis often a biopsy is required. The treatment in such cases (orbital granulocytic sarcoma) is not standardized. Orbital granulocytic sarcoma may be suspected in cases of orbital tumors even in the absence of systemic manifestations of leukemia at any age.

Sarcoma granulocítico em órbita: relato de caso / Orbital granulocytic sarcoma: case report

O sarcoma granulocítico é tumor que freqüentemente aparece em pacientes portadores de leucemia mielóide aguda, podendo aparecer em diferentes regiões do corpo, incluindo a órbita. Nesta última localização, é mais freqüente em crianças e adultos jovens, com discreta predominância em pacientes do sexo masculino. Este é um caso de sarcoma granulocítico orbitário de evolução rápida, sem manifestação sistêmica associada em uma paciente de 33 anos de idade, o que o torna incomum. O surgimento do sarcoma granulocítico orbitário sem acometimento leucêmico pode ocorrer em cerca de 88 por cento dos pacientes com acometimento orbitário. A maioria dos pacientes apresenta evidências hematológicas de comprometimento sistêmico em 2 meses após a manifestação orbitária. Neste relato de caso, a paciente não apresenta acometimento sistêmico, apesar da manifestação orbitária estar presente há 30 meses. Os principais diagnósticos diferenciais do sarcoma granulocítico orbitário são o linfoma, o rabdomiossarcoma e o neuroblastoma. O diagnóstico pode ser dificultado, principalmente nos casos sem acometimento sistêmico, nos quais os exames de imagem e as manifestações clínicas pouco diferem de outras doenças. Para o diagnóstico deve-se realizar uma biópsia da lesão orbitária para análise anatomopatológica e imuno-histoquímica. O tratamento nos casos de sarcoma granulocítico orbitário sem acometimento sistêmico não é padronizado. A hipótese diagnóstica de sarcoma granulocítico orbitário deve ser aventada em casos de pacientes com tumoração orbitária mesmo que não apresentem sinais ou sintomas sistêmicos e independentes da faixa etária.

Assessment of monocytic component in acute myelomonocytic and monocytic/monoblastic leukemias by a chemiluminescent assay.

INTRODUCTION: Classically, the monocytic component of acute myelomonocytic (FAB-M4) and acute monocytic/monoblastic (FAB-M5) leukemias is demonstrated by nonspecific esterase positivity in cytochemical stainings. We have previously demonstrated that non-specific esterases from normal monocytes can be determined by a chemiluminescent method. In the present study, we investigated whether this assay can also determine the monocytic component of FAB-M4 and FAB-M5 and distinguish these acute myeloid leukemia (AML) categories. MATERIALS AND METHODS: Bone marrow samples were obtained from 66 patients with AML (M0, two cases; M1, 12 cases; M2, 13 cases; M3, 10 cases; M4, 11 cases; M5, 12 cases; M6, two cases; M7, four cases). Cells were incubated with a standard reaction mixture and chemiluminescence was measured for 10 min. Two parameters were assessed, the peak (PLE) and the integrated light emission (ILE). RESULTS: Both PLE and ILE were higher in FAB-M4 and FAB-M5 subtypes compared to other AML subtypes (P<0.001). In addition, the classification of AML cases into FAB-M4, FAB-M5 and nonmonocytic subtypes based on ILE analysis was concordant with alpha-naphthyl acetate esterase (ANAE) in 97% of cases (kappa coefficient 0.94, P<0.001). CONCLUSIONS: These findings indicate that this chemiluminescent assay was able to determine the monocytic component of FAB-M4 and FAB-M5 cells, and the classification of AML subtypes based on chemiluminescent analysis strongly agreed with the cytochemical ANAE-staining. In conclusion, this chemiluminescent assay is a simple, fast and objective method, which may be useful as an alternative tool in the differential diagnosis of AML subtypes.

t(4;12)(q11;p13): a rare chromosomal translocation in acute myeloid leukemia.

We present a case of acute myeloid leukemia with t(4;12). This translocation is rare and has been observed in acute leukemias with different but immature phenotypes. To the best of our knowledge, there are around 15 descriptions of t(4;12) in AML, and most interesting, presenting morphological aspects of a pseudo-lymphoid cell with dysplasia of other series.

Two different karyotypes with 1q abnormalities in a patient with Fanconi anemia.

We report a case of Fanconi anemia in which cytogenetic analysis of bone marrow (BM) samples revealed two distinct karyotypes: 46,XY,dup(1)(q21q42), in the first sample and 46,XY,del(1)(q32) in the second, aspirated 7 months later after acute myeloid leukemia (AML) developed. We discuss the cytogenetic clonal fluctuation common in Fanconi anemia, with the Fanconi's anemia (FA) reports available in the literature. Interestingly, we have identified that del(1)(q32) has not been reported before in FA.